Aliases for CEP104 Gene
Aliases for CEP104 Gene
External Ids for CEP104 Gene
- HGNC: 24866
- Entrez Gene: 9731
- Ensembl: ENSG00000116198
- OMIM: 616690
- UniProtKB: O60308
Previous HGNC Symbols for CEP104 Gene
- KIAA0562
Previous GeneCards Identifiers for CEP104 Gene
- GC01M003728
Summaries for CEP104 Gene
-
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
GeneCards Summary for CEP104 Gene
CEP104 (Centrosomal Protein 104) is a Protein Coding gene. Diseases associated with CEP104 include Joubert Syndrome 25 and Joubert Syndrome 1. Gene Ontology (GO) annotations related to this gene include binding and glutamate binding.
UniProtKB/Swiss-Prot for CEP104 Gene
-
Required for ciliogenesis and for structural integrity at the ciliary tip.
Additional gene information for CEP104 Gene
- Monarch Initiative
- Search for CEP104 at DataMed
- Search for CEP104 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP104 Gene
Genomics for CEP104 Gene
GeneHancer (GH) Regulatory Elements for CEP104 Gene
Promoters and enhancers for CEP104 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CEP104 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CEP104 Gene
Genomic Locations for CEP104 Gene
- chr1:3,812,081-3,857,387
- (GRCh38/hg38)
- Size:
- 45,307 bases
- Orientation:
- Minus strand
- chr1:3,728,645-3,773,797
- (GRCh37/hg19)
- Size:
- 45,153 bases
- Orientation:
- Minus strand
Genomic View for CEP104 Gene
Genes around CEP104 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.32 by Entrez Gene
- 1p36.32 by HGNC
- 1p36.32 by Ensembl
CEP104 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 CEP104 Gene
Proteins for CEP104 Gene
-
Protein details for CEP104 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60308-CE104_HUMAN
- Recommended name:
- Centrosomal protein of 104 kDa
- Protein Accession:
- O60308
- A0A024R4G3
- Q5JSQ3
- Q5SR24
- Q5SR25
- Q6PKF5
- Q86W32
- Q86X14
Protein attributes for CEP104 Gene
- Size:
- 925 amino acids
- Molecular mass:
- 104448 Da
- Quaternary structure:
-
- Interacts with CCP110 and CEP97.
- SequenceCaution:
-
- Sequence=AAH01640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA25488.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for CEP104 Gene
Post-translational modifications for CEP104 Gene
Other Protein References for CEP104 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CEP104
- Novus Biologicals Antibodies for CEP104
-
Abcam antibodies for CEP104
- Invitrogen Antibodies for CEP104 (AFLGC-CEP104)
- GeneTex Cep104 Antibody for CEP104
-
Boster Bio Antibodies for CEP104
-
Santa Cruz Biotechnology (SCBT) Antibodies for CEP104
Protein Products
-
OriGene Purified Proteins for CEP104
- Search Origene for MassSpec and Protein Over-expression Lysates for CEP104
- Origene Custom Protein Services for CEP104
- Search GeneTex for Proteins for CEP104
-
Abcam proteins for CEP104
Assay Products
No data available for DME Specific Peptides for CEP104 Gene
Domains & Families for CEP104 Gene
Gene Families for CEP104 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CEP104 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CEP104 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CEP104 Gene
Function for CEP104 Gene
Molecular function for CEP104 Gene
- UniProtKB/Swiss-Prot Function:
- Required for ciliogenesis and for structural integrity at the ciliary tip.
Phenotypes From GWAS Catalog for CEP104 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005488 | binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 26420826 |
| GO:0016594 | glycine binding | IEA | -- |
| GO:0016595 | glutamate binding | IEA | -- |
| GO:0016596 | thienylcyclohexylpiperidine binding | IEA | -- |
Phenotypes for CEP104 Gene
- GenomeRNAi human phenotypes for CEP104:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CEP104
-
CRISPR Products
-
OriGene CRISPR knockouts for CEP104
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP104
- genomics-online: gRNA clones - Search results for available KIAA0562 gene related products
- Applied Biological Materials CRISPR for CEP104
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP104
- GenScript: Design CRISPR guide RNA sequences for CEP104
miRNA for CEP104 Gene
- miRTarBase miRNAs that target CEP104
-
- hsa-mir-1301-3p (MIRT036030)
- hsa-mir-23b-3p (MIRT046262)
- hsa-mir-1277-5p (MIRT504025)
- hsa-mir-190a-3p (MIRT504026)
- hsa-mir-6867-5p (MIRT504027)
- hsa-mir-223-5p (MIRT504028)
- hsa-mir-302a-5p (MIRT504029)
- hsa-mir-511-3p (MIRT504030)
- hsa-mir-5011-5p (MIRT504031)
- hsa-mir-548t-5p (MIRT504032)
- hsa-mir-548az-5p (MIRT504033)
- hsa-mir-548n (MIRT504034)
- hsa-mir-605-3p (MIRT515841)
- hsa-mir-3910 (MIRT515842)
- hsa-mir-6720-5p (MIRT540053)
- hsa-mir-6512-3p (MIRT540054)
- hsa-mir-196a-3p (MIRT540055)
- hsa-mir-3135a (MIRT540056)
- hsa-mir-4696 (MIRT540057)
- hsa-mir-766-3p (MIRT540058)
- hsa-mir-6827-3p (MIRT540059)
- hsa-mir-340-3p (MIRT540060)
- hsa-mir-6849-3p (MIRT540061)
- hsa-mir-6501-3p (MIRT540062)
- hsa-mir-451b (MIRT540063)
- hsa-mir-4432 (MIRT540064)
- hsa-mir-508-5p (MIRT541875)
- hsa-mir-6878-3p (MIRT640138)
- hsa-mir-7111-3p (MIRT640139)
- hsa-mir-340-5p (MIRT640140)
- hsa-mir-6744-3p (MIRT640141)
- hsa-mir-6829-3p (MIRT640142)
- hsa-mir-4757-5p (MIRT640143)
- hsa-mir-6791-3p (MIRT640144)
- hsa-mir-3922-3p (MIRT640145)
- hsa-mir-3176 (MIRT640146)
- hsa-mir-7110-3p (MIRT640147)
- hsa-mir-6845-3p (MIRT640148)
- hsa-mir-6769b-3p (MIRT640149)
- hsa-mir-4723-3p (MIRT640150)
- hsa-mir-3183 (MIRT640151)
- hsa-mir-5193 (MIRT640152)
- hsa-mir-6087 (MIRT680950)
- hsa-mir-219b-3p (MIRT680951)
- hsa-mir-4459 (MIRT680952)
- hsa-mir-1247-3p (MIRT680953)
- hsa-mir-302f (MIRT680954)
- hsa-mir-5089-5p (MIRT684118)
- hsa-mir-5589-5p (MIRT684119)
- hsa-mir-4731-5p (MIRT684120)
- hsa-mir-6778-3p (MIRT684121)
- hsa-mir-4707-3p (MIRT684122)
- hsa-mir-6506-5p (MIRT684123)
- hsa-mir-619-5p (MIRT684124)
- hsa-mir-150-5p (MIRT684125)
- hsa-mir-7107-5p (MIRT684126)
- hsa-mir-1234-3p (MIRT684127)
- hsa-mir-186-3p (MIRT684128)
- hsa-mir-520h (MIRT684129)
- hsa-mir-520g-3p (MIRT684130)
- hsa-mir-6504-3p (MIRT684131)
- hsa-mir-512-3p (MIRT684132)
- hsa-mir-520e (MIRT684133)
- hsa-mir-520d-3p (MIRT684134)
- hsa-mir-520c-3p (MIRT684135)
- hsa-mir-520b (MIRT684136)
- hsa-mir-520a-3p (MIRT684137)
- hsa-mir-373-3p (MIRT684138)
- hsa-mir-372-3p (MIRT684139)
- hsa-mir-302e (MIRT684140)
- hsa-mir-302d-3p (MIRT684141)
- hsa-mir-302c-3p (MIRT684142)
- hsa-mir-302b-3p (MIRT684143)
- hsa-mir-302a-3p (MIRT684144)
- hsa-mir-93-5p (MIRT684145)
- hsa-mir-526b-3p (MIRT684146)
- hsa-mir-519d-3p (MIRT684147)
- hsa-mir-20b-5p (MIRT684148)
- hsa-mir-20a-5p (MIRT684149)
- hsa-mir-17-5p (MIRT684150)
- hsa-mir-106b-5p (MIRT684151)
- hsa-mir-106a-5p (MIRT684152)
- hsa-mir-6513-5p (MIRT692131)
- hsa-mir-887-5p (MIRT692132)
- hsa-mir-3913-5p (MIRT692133)
- hsa-mir-3122 (MIRT692134)
- hsa-mir-450a-1-3p (MIRT692135)
- hsa-mir-6780a-5p (MIRT692136)
- hsa-mir-6779-5p (MIRT692137)
- hsa-mir-3689c (MIRT692138)
- hsa-mir-3689b-3p (MIRT692139)
- hsa-mir-3689a-3p (MIRT692140)
- hsa-mir-30b-3p (MIRT692141)
- hsa-mir-1273h-5p (MIRT692142)
- hsa-mir-6788-5p (MIRT692143)
- hsa-mir-30c-2-3p (MIRT692144)
- hsa-mir-30c-1-3p (MIRT692145)
- hsa-mir-7977 (MIRT692146)
- hsa-mir-654-5p (MIRT692147)
- hsa-mir-541-3p (MIRT692148)
- hsa-mir-6721-5p (MIRT692149)
- hsa-mir-6799-5p (MIRT692150)
- hsa-mir-6883-5p (MIRT692151)
- hsa-mir-6785-5p (MIRT692152)
- hsa-mir-4728-5p (MIRT692153)
- hsa-mir-149-3p (MIRT692154)
- hsa-mir-7106-5p (MIRT692155)
- hsa-mir-383-3p (MIRT692156)
- hsa-mir-4761-5p (MIRT692157)
- hsa-mir-1273g-3p (MIRT761919)
- hsa-mir-1292-3p (MIRT762297)
- hsa-mir-4252 (MIRT767981)
- hsa-mir-4793-3p (MIRT772371)
- hsa-mir-7703 (MIRT781988)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP104
- Browse OriGene Inhibitory RNA Products For CEP104
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP104
- genomics-online: shRNA clones - Search results for available KIAA0562 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CEP104
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP104
- genomics-online: cdna clones - Search results for available KIAA0562 gene related products
- orf clones - Search results for available KIAA0562 gene related products
- Applied Biological Materials Clones for CEP104
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CEP104
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP104 Gene
Localization for CEP104 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CEP104 Gene
- Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles. {ECO:0000269 PubMed:23970417}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 3 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005814 | centriole | IEA,IDA | 21399614 |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP104 Gene
Pathways & Interactions for CEP104 Gene
No Data Available
Interacting Proteins for CEP104 Gene
Selected Interacting proteins:
O60308-CE104_HUMAN
ENSP00000367476
for CEP104 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CEP104
No data available for Pathways by source and SIGNOR curated interactions for CEP104 Gene
Transcripts for CEP104 Gene
mRNA/cDNA for CEP104 Gene
- (11) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (132) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000378230 6424 bps (uc001aky.3)
- ENST00000484420 458 bps (uc057bqw.1)
- ENST00000438539 683 bps (uc057bqx.1)
- ENST00000461667 926 bps (uc057bqy.1)
- ENST00000495701 485 bps (uc057bqz.1)
Unigene Clusters for CEP104 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CEP104
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP104
- genomics-online: gRNA clones - Search results for available KIAA0562 gene related products
- Applied Biological Materials CRISPR for CEP104
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP104
- GenScript: Design CRISPR guide RNA sequences for CEP104
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP104
- Browse OriGene Inhibitory RNA Products For CEP104
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP104
- genomics-online: shRNA clones - Search results for available KIAA0562 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CEP104
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP104
- genomics-online: cdna clones - Search results for available KIAA0562 gene related products
- orf clones - Search results for available KIAA0562 gene related products
- Applied Biological Materials Clones for CEP104
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | - | - | |||||||||
| SP8: | |||||||||||
| SP9: |
Expression for CEP104 Gene
This gene is overexpressed in Liver (24.4), Salivary gland (14.2), Urine (13.5), and Placenta (8.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP104 Gene
NURSA nuclear receptor signaling pathways regulating expression of CEP104 Gene:
CEP104SOURCE GeneReport for Unigene cluster for CEP104 Gene:
Hs.509017Evidence on tissue expression from TISSUES for CEP104 Gene
- Kidney(4.2)
- Skin(4.2)
- Nervous system(4.2)
Primer Products
-
OriGene qPCR primer pairs for CEP104
-
OriGene qPCR primer pairs and template standards for CEP104
- genomics-online: primer clones - Search results for available KIAA0562 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP104 Gene
Orthologs for CEP104 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CEP104 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CEP104 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CEP104 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cep104 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CEP104 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cep104 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CEP104 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CEP104 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CEP104 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cep104 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cep104 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG10137 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009750 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C40H1.3 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2978 34 |
|
OneToOne |
- Species where no ortholog for CEP104 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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)
- 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 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)
- wheat (Triticum aestivum)
Evolution for CEP104 Gene
- ENSEMBL:
- Gene Tree for CEP104 (if available)
- TreeFam:
- Gene Tree for CEP104 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CEP104: view image
Paralogs for CEP104 Gene
No data available for Paralogs for CEP104 Gene
Variants for CEP104 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111626991 | benign, Joubert syndrome 25 | 3,823,176(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs115015364 | benign, Joubert syndrome 25 | 3,835,047(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs148455387 | benign, Joubert syndrome 25 | 3,836,504(-) | T/A | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs185664269 | uncertain-significance, Joubert syndrome 25 | 3,816,298(-) | C/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs2275829 | benign, Joubert syndrome 25 | 3,829,920(-) | T/C | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1074506 | CNV | insertion | 17803354 |
| esv1948239 | CNV | deletion | 18987734 |
| esv3585042 | CNV | gain | 21293372 |
| esv3585052 | CNV | gain | 21293372 |
| nsv1012423 | CNV | gain | 25217958 |
| nsv1116483 | OTHER | inversion | 24896259 |
| nsv1140742 | CNV | deletion | 24896259 |
| nsv1141741 | CNV | insertion | 24896259 |
| nsv159844 | CNV | deletion | 16902084 |
| nsv509590 | CNV | insertion | 20534489 |
| nsv545130 | CNV | gain | 21841781 |
| nsv830425 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.37;
88.44% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CEP104 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP104 Gene
Disorders for CEP104 Gene
(4) MalaCards diseases for CEP104 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 25 |
|
|
| joubert syndrome 1 |
|
|
| potter's syndrome |
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| apraxia |
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Search CEP104 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CE104_HUMAN- Joubert syndrome 25 (JBTS25) [MIM:616781]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive. {ECO:0000269 PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CEP104
No data available for Genatlas for CEP104 Gene
Publications for CEP104 Gene
- Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly. (PMID: 23970417) Satish Tammana TV … Rosenbaum J (Journal of cell science 2013) 2 3 4 58
- Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 2 3 4 58
- Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (PMID: 26477546) Srour M … Michaud JL (American journal of human genetics 2015) 3 4 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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