Aliases for TCOF1 Gene
Aliases for TCOF1 Gene
External Ids for TCOF1 Gene
- HGNC: 11654
- Entrez Gene: 6949
- Ensembl: ENSG00000070814
- OMIM: 606847
- UniProtKB: Q13428
Previous GeneCards Identifiers for TCOF1 Gene
- GC05P149806
- GC05P150198
- GC05P149720
- GC05P149765
- GC05P149717
- GC05P144885
Summaries for TCOF1 Gene
-
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
GeneCards Summary for TCOF1 Gene
TCOF1 (Treacle Ribosome Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with TCOF1 include Treacher Collins Syndrome 1 and Microtia. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include transporter activity.
UniProtKB/Swiss-Prot for TCOF1 Gene
-
Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
Additional gene information for TCOF1 Gene
- Monarch Initiative
- Search for TCOF1 at DataMed
- Search for TCOF1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCOF1 Gene
Genomics for TCOF1 Gene
GeneHancer (GH) Regulatory Elements for TCOF1 Gene
Promoters and enhancers for TCOF1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05I150356 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 560.9 | +0.0 | 15 | 2.8 | HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 | TCOF1 LOC105378226 ZNF300P1 RPS20P4 HMGXB3 GC05M150403 | |
| GH05I149956 | Promoter/Enhancer | 2.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 77.8 | -398.0 | -397990 | 6.7 | HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 | SLC26A2 PDE6A HMGXB3 TCOF1 ZNF300 ZNF300P1 TIGD6 RPL7P1 CSNK1A1 RPS20P4 | |
| GH05I149449 | Enhancer | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 101 | -904.2 | -904172 | 8.5 | HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B YBX1 DMAP1 | HMGXB3 TCOF1 TIGD6 RPL7P1 RPS20P4 CARMN CSNK1A1 PDGFRB RPS14 ARHGEF37 | |
| GH05I150359 | Enhancer | 0.3 | ENCODE | 550.8 | +1.6 | 1587 | 0 | RCOR2 | TCOF1 GC05M150403 | |
| GH05I150355 | Enhancer | 0.2 | ENCODE | 550.8 | -1.6 | -1626 | 0.2 | LOC105378226 TCOF1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TCOF1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TCOF1 Gene
Genomic Locations for TCOF1 Gene
- chr5:150,357,639-150,400,308
- (GRCh38/hg38)
- Size:
- 42,670 bases
- Orientation:
- Plus strand
- chr5:149,737,202-149,779,871
- (GRCh37/hg19)
Genomic View for TCOF1 Gene
Genes around TCOF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q32 by Ensembl
- 5q32-q33.1 by Entrez Gene
- 5q32-q33.1 by HGNC
TCOF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TCOF1 Gene
Proteins for TCOF1 Gene
-
Protein details for TCOF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13428-TCOF_HUMAN
- Recommended name:
- Treacle protein
- Protein Accession:
- Q13428
- A0JLU0
- B4E111
- Q6SC72
- Q7Z5W9
- Q96A52
- Q99408
- Q99860
Protein attributes for TCOF1 Gene
- Size:
- 1488 amino acids
- Molecular mass:
- 152106 Da
- Quaternary structure:
-
- Heterodimer; heterodimerizes with NOLC1 following monoubiquitination (PubMed:26399832). Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA-independent manner (PubMed:12777385).
- SequenceCaution:
-
- Sequence=AAH16144.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for TCOF1 Gene
Post-translational modifications for TCOF1 Gene
- Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
Other Protein References for TCOF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TCOF1
-
Abcam antibodies for TCOF1
- Invitrogen Antibodies for TCOF1
- Search GeneTex for Antibodies for TCOF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TCOF1
Protein Products
-
OriGene Purified Proteins for TCOF1
- Search Origene for MassSpec and Protein Over-expression Lysates for TCOF1
- Origene Custom Protein Services for TCOF1
- antibodies-online: Search results for 4 available TCOF1 Proteins ranked by validation data
- Compare Top TCOF1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TCOF1
-
Abcam proteins for TCOF1
Assay Products
- antibodies-online: Search results for 3 available TCOF1 Elisa Kits ranked by validation data
- Compare Top TCOF1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for TCOF1 Gene
Domains & Families for TCOF1 Gene
Gene Families for TCOF1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TCOF1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TCOF1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TCOF1 Gene
Function for TCOF1 Gene
Molecular function for TCOF1 Gene
- UniProtKB/Swiss-Prot Function:
- Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
Phenotypes From GWAS Catalog for TCOF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001042 | RNA polymerase I core binding | IDA | 26399832 |
| GO:0003723 | RNA binding | IDA,HDA | 22658674 |
| GO:0005215 | transporter activity | TAS | 9096354 |
| GO:0005515 | protein binding | IPI | 17620599 |
| GO:0046982 | protein heterodimerization activity | IPI | 26399832 |
Phenotypes for TCOF1 Gene
- MGI mutant phenotypes for TCOF1:
-
inferred from 1 alleles
- nervous system phenotype
- respiratory system phenotype
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- embryo phenotype
- skeleton phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for TCOF1:
-
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased viability with SS1P at EC30
Animal Models for TCOF1 Gene
- MGI Knock Outs for TCOF1:
-
- Tcof1 tm1Mjd
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TCOF1
-
- Search ViGene Biosciences for TCOF1
CRISPR Products
-
OriGene CRISPR knockouts for TCOF1
- genomics-online: gRNA clones - Search results for 102 available TCOF1 gene related products
- Overview of 102 available TCOF1 gene related products
- Applied Biological Materials CRISPR for TCOF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCOF1
- GenScript: Design CRISPR guide RNA sequences for TCOF1
miRNA for TCOF1 Gene
- miRTarBase miRNAs that target TCOF1
-
- hsa-mir-124-3p (MIRT022519)
- hsa-mir-34a-5p (MIRT025404)
- hsa-mir-7-5p (MIRT025762)
- hsa-let-7b-5p (MIRT032257)
- hsa-mir-744-5p (MIRT037490)
- hsa-mir-93-3p (MIRT038780)
- hsa-mir-615-3p (MIRT040239)
- hsa-mir-92b-3p (MIRT040570)
- hsa-mir-324-5p (MIRT043143)
- hsa-mir-151a-3p (MIRT043611)
- hsa-mir-222-3p (MIRT046740)
- hsa-mir-197-3p (MIRT048102)
- hsa-mir-92a-3p (MIRT049104)
- hsa-mir-218-5p (MIRT439477)
- hsa-mir-6857-5p (MIRT458568)
- hsa-mir-588 (MIRT458569)
- hsa-mir-4701-5p (MIRT458570)
- hsa-mir-7847-3p (MIRT458571)
- hsa-mir-6880-5p (MIRT458572)
- hsa-mir-6801-5p (MIRT458573)
- hsa-mir-4450 (MIRT458574)
- hsa-mir-3622b-5p (MIRT458575)
- hsa-mir-6851-5p (MIRT458576)
- hsa-mir-3689d (MIRT458577)
- hsa-mir-4252 (MIRT458578)
- hsa-mir-6786-5p (MIRT458579)
- hsa-mir-4257 (MIRT458580)
- hsa-mir-6847-5p (MIRT458581)
miRNA Products
- Search ViGene Biosciences for TCOF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TCOF1
- Browse OriGene Inhibitory RNA Products For TCOF1
- genomics-online: shRNA clones - Search results for 102 available TCOF1 gene related products
- Overview of 102 available TCOF1 gene related products
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TCOF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TCOF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TCOF1
- Applied Biological Materials Clones for TCOF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TCOF1 Gene
Localization for TCOF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TCOF1 Gene
- Nucleus, nucleolus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| endosome | 1 |
- Nucleoli fibrillar center (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IDA | -- |
| GO:0005730 | nucleolus | IDA,TAS | 15249688 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for TCOF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ribosome biogenesis in eukaryotes | ||
Pathways by source for TCOF1 Gene
1 KEGG pathway for TCOF1 Gene
Interacting Proteins for TCOF1 Gene
Selected Interacting proteins:
ENSP00000421655
Q13428-TCOF_HUMAN
for TCOF1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | TAS | 9096354 |
| GO:0006417 | regulation of translation | IMP | 26399832 |
| GO:0014029 | neural crest formation | IMP | 26399832 |
| GO:0014032 | neural crest cell development | IMP | 26399832 |
No data available for SIGNOR curated interactions for TCOF1 Gene
Transcripts for TCOF1 Gene
mRNA/cDNA for TCOF1 Gene
- (20) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (298) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TCOF1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TCOF1
- genomics-online: gRNA clones - Search results for 102 available TCOF1 gene related products
- Overview of 102 available TCOF1 gene related products
- Applied Biological Materials CRISPR for TCOF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCOF1
- GenScript: Design CRISPR guide RNA sequences for TCOF1
miRNA Products
- Search ViGene Biosciences for TCOF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TCOF1
- Browse OriGene Inhibitory RNA Products For TCOF1
- genomics-online: shRNA clones - Search results for 102 available TCOF1 gene related products
- Overview of 102 available TCOF1 gene related products
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TCOF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TCOF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TCOF1
- Applied Biological Materials Clones for TCOF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | ^ |
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| SP15: |
| ExUns: | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23 |
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| SP10: | - | ||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||
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| SP14: | |||||||||||||||||||||||||||
| SP15: |
Expression for TCOF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Peripheral blood mononuclear cells (24.5), CD8 Tcells (10.8), and Lymph node (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TCOF1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TCOF1 Gene:
TCOF1SOURCE GeneReport for Unigene cluster for TCOF1 Gene:
Hs.519672Evidence on tissue expression from TISSUES for TCOF1 Gene
- Skin(4.6)
- Liver(4.4)
- Eye(4.3)
- Nervous system(4.1)
- Lung(3.4)
- Blood(2.6)
- Intestine(2.5)
- Heart(2.2)
- Muscle(2.2)
- Thyroid gland(2.2)
- Lymph node(2)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TCOF1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TCOF1
- genomics-online: primer clones - Search results for 102 available TCOF1 gene related products
- Overview of 102 available TCOF1 gene related products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCOF1 Gene
Orthologs for TCOF1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TCOF1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TCOF1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TCOF1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tcof1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tcof1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TCOF1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TCOF1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TCOF1 34 |
|
OneToOne |
- Species where no ortholog for TCOF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for TCOF1 Gene
(1) SIMAP similar genes for TCOF1 Gene using alignment to 7 proteins:
No data available for Paralogs for TCOF1 Gene
Variants for TCOF1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1039933547 | uncertain-significance, Treacher Collins Syndrome, Dominant | 150,400,020(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs111365835 | benign, Treacher Collins syndrome 1 | 150,398,559(+) | C/A/T | genic_downstream_transcript_variant, intron_variant | |
| rs112039991 | likely-benign, Treacher Collins Syndrome, Dominant, not provided | 150,374,653(+) | G/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs112332762 | likely-benign, not specified, Treacher Collins Syndrome, Dominant | 150,364,243(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs112447402 | benign, Treacher Collins syndrome 1 | 150,383,035(+) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1309088 | CNV | deletion | 17803354 |
| esv2114978 | CNV | deletion | 18987734 |
| esv2649922 | CNV | deletion | 19546169 |
| esv2672361 | CNV | deletion | 23128226 |
| esv2730915 | CNV | deletion | 23290073 |
| esv3289939 | CNV | deletion | 24192839 |
| esv3566810 | CNV | deletion | 23714750 |
| esv5186 | CNV | loss | 18987735 |
| esv6012 | CNV | loss | 19470904 |
| esv989812 | CNV | deletion | 20482838 |
| nsv1022057 | CNV | gain | 25217958 |
| nsv1074878 | CNV | deletion | 25765185 |
| nsv1123996 | CNV | deletion | 24896259 |
| nsv1150377 | CNV | deletion | 26484159 |
Residual Variation Intolerance Score:
95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.76;
91.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TCOF1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCOF1 Gene
Disorders for TCOF1 Gene
(23) MalaCards diseases for TCOF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| treacher collins syndrome 1 |
|
|
| microtia |
|
|
| abruzzo-erickson syndrome |
|
|
| timothy grass allergy |
|
|
| acute salpingitis |
|
|
Search TCOF1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TCOF_HUMAN- Treacher Collins syndrome 1 (TCS1) [MIM:154500]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. {ECO:0000269 PubMed:9042910}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for TCOF1 Gene
Treacher Collins-Franceschetti syndrome,mandibulofacial dysostosis characterized by antimongoloid slant of eyes,coloboma of inferior lid,narrowing of the external ears and malformation of the middle ear ossicles which may lead to deafness,hypoplasia of the mandible (macrognathia) and cleft palate and macrostomia
Additional Disease Information for TCOF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for TCOF1 Gene
- Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. (PMID: 18688869) Sull JW … Beaty TH (American journal of medical genetics. Part A 2008) 3 22 44 58
- Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (PMID: 15340364) Teber OA … Wieczorek D (European journal of human genetics : EJHG 2004) 3 22 44 58
- Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (PMID: 12777385) Hayano T … Takahashi N (The Journal of biological chemistry 2003) 3 4 22 58
- The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. (PMID: 9042910) Edwards SJ … Dixon MJ (American journal of human genetics 1997) 3 4 22 58
- Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (PMID: 9074926) Dixon J … Dixon MJ (Genome research 1997) 3 4 22 58
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Sources for TCOF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (23) PharmGKB
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- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
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- (41) dbSNP
- (42) GenAtlas
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- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
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- (58) PubMed
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (93) HOMER
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- (96) Addgene
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