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This locus represents naturally-occurring readthrough transcription that extends through two unprocessed pseudogenes, TBC1D3P1 (TBC1 domain family member 3 pseudogene 1) and DHX40P1 (DEAH-box helicase 40 pseudogene 1), to protein-coding RNFT1 (ring finger protein, transmembrane 1). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript... See more...
Aliases for TBC1D3P1-DHX40P1 Gene
Aliases for TBC1D3P1-DHX40P1 Gene
External Ids for TBC1D3P1-DHX40P1 Gene
- HGNC: 42362
- Entrez Gene: 653645
- Ensembl: ENSG00000267104
Previous GeneCards Identifiers for TBC1D3P1-DHX40P1 Gene
- GC17M058054
- GC17M058039
Summaries for TBC1D3P1-DHX40P1 Gene
-
This locus represents naturally-occurring readthrough transcription that extends through two unprocessed pseudogenes, TBC1D3P1 (TBC1 domain family member 3 pseudogene 1) and DHX40P1 (DEAH-box helicase 40 pseudogene 1), to protein-coding RNFT1 (ring finger protein, transmembrane 1). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript likely does not encode a functional protein, since translation of the long open reading frames would render the transcript a candidate for nonsense-mediated decay (NMD). [provided by RefSeq, Jan 2016]
GeneCards Summary for TBC1D3P1-DHX40P1 Gene
TBC1D3P1-DHX40P1 (TBC1D3P1-DHX40P1 Readthrough, Transcribed Pseudogene) is a Pseudogene.
Additional gene information for TBC1D3P1-DHX40P1 Gene
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3P1-DHX40P1 Gene
Genomics for TBC1D3P1-DHX40P1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBC1D3P1-DHX40P1 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH17J059963 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.2 | +54.6 | 54551 | 2.6 | RNF2 SP1 GATAD2A PRDM10 REST ZNF629 TFE3 LEF1 IKZF1 ZNF692 | RNFT1-DT RNFT1 SMG8 PPM1D TUBD1 HEATR6 NDUFB8P2 ENSG00000275860 DHX40 ENSG00000267318 | |
| GH17J059968 | Enhancer | 0.3 | Ensembl | 0.2 | +50.6 | 50551 | 0.2 | ADNP | RNFT1 RNFT1-DT piR-42366-001 ENSG00000267318 lnc-RNFT1-2 TBC1D3P1-DHX40P1 HEATR6 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TBC1D3P1-DHX40P1 on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for TBC1D3P1-DHX40P1 Gene
Genomic Locations for TBC1D3P1-DHX40P1 Gene
- chr17:59,962,363-60,019,052
- (GRCh38/hg38)
- Size:
- 56,690 bases
- Orientation:
- Minus strand
- chr17:58,039,724-58,096,413
- (GRCh37/hg19)
- Size:
- 56,690 bases
- Orientation:
- Minus strand
Genomic View for TBC1D3P1-DHX40P1 Gene
Genes around TBC1D3P1-DHX40P1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.1 by HGNC
- 17q23.1 by Entrez Gene
- 17q23.1 by Ensembl
TBC1D3P1-DHX40P1 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 TBC1D3P1-DHX40P1 Gene
Proteins for TBC1D3P1-DHX40P1 Gene
Post-translational modifications for TBC1D3P1-DHX40P1 Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TBC1D3P1-DHX40P1
- Origene Custom Protein Services for TBC1D3P1-DHX40P1
No data available for DME Specific Peptides for TBC1D3P1-DHX40P1 Gene
Domains & Families for TBC1D3P1-DHX40P1 Gene
No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3P1-DHX40P1 Gene
Function for TBC1D3P1-DHX40P1 Gene
Phenotypes From GWAS Catalog for TBC1D3P1-DHX40P1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D3P1-DHX40P1 - Select products 50% OFF >
- * TBC1D3P1-DHX40P1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Browse CRISPR knockouts for TBC1D3P1-DHX40P1
miRNA Products
Inhibitory RNA Products
Clone Products
- Applied Biological Materials (abm): Clones for TBC1D3P1-DHX40P1 - Select products 50% OFF >
- * TBC1D3P1-DHX40P1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3P1-DHX40P1 Gene
Localization for TBC1D3P1-DHX40P1 Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TBC1D3P1-DHX40P1 Gene
Transcripts for TBC1D3P1-DHX40P1 Gene
mRNA/cDNA for TBC1D3P1-DHX40P1 Gene
- 2 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000587125 1841 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D3P1-DHX40P1 - Select products 50% OFF >
- * TBC1D3P1-DHX40P1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Browse CRISPR knockouts for TBC1D3P1-DHX40P1
miRNA Products
Inhibitory RNA Products
Clone Products
- Applied Biological Materials (abm): Clones for TBC1D3P1-DHX40P1 - Select products 50% OFF >
- * TBC1D3P1-DHX40P1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
Relevant External Links for TBC1D3P1-DHX40P1 Gene
- GeneLoc Exon Structure for
- TBC1D3P1-DHX40P1
Expression for TBC1D3P1-DHX40P1 Gene
mRNA differential expression in normal tissues according to GTEx for TBC1D3P1-DHX40P1 Gene
This gene is overexpressed in Testis (x50.3).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D3P1-DHX40P1
SOURCE GeneReport for Unigene cluster for TBC1D3P1-DHX40P1 Gene:
Hs.600085
Primer Products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3P1-DHX40P1 Gene
Orthologs for TBC1D3P1-DHX40P1 Gene
No data available for Orthologs for TBC1D3P1-DHX40P1 Gene
Paralogs for TBC1D3P1-DHX40P1 Gene
No data available for Paralogs for TBC1D3P1-DHX40P1 Gene
Variants for TBC1D3P1-DHX40P1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1788e59 | CNV | duplication | 20981092 |
| esv2676797 | CNV | deletion | 23128226 |
| esv2758700 | CNV | gain+loss | 17122850 |
| esv28791 | CNV | gain+loss | 19812545 |
| esv3331748 | CNV | duplication | 20981092 |
| esv3389314 | CNV | duplication | 20981092 |
| esv3640916 | CNV | loss | 21293372 |
| esv3640917 | CNV | loss | 21293372 |
| nsv1075938 | CNV | duplication | 25765185 |
| nsv1118598 | CNV | duplication | 24896259 |
| nsv1124757 | CNV | duplication | 24896259 |
| nsv1149934 | CNV | duplication | 26484159 |
| nsv428348 | CNV | gain | 18775914 |
| nsv471702 | CNV | gain | 15918152 |
| nsv7295 | OTHER | inversion | 18451855 |
| nsv833502 | CNV | gain | 17160897 |
| nsv9578 | CNV | gain+loss | 18304495 |
| nsv960130 | CNV | duplication | 23825009 |
| nsv962348 | CNV | duplication | 23825009 |
| nsv962349 | CNV | duplication | 23825009 |
| nsv978444 | CNV | duplication | 23825009 |
Additional Variant Information for TBC1D3P1-DHX40P1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TBC1D3P1-DHX40P1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for TBC1D3P1-DHX40P1 Gene
Disorders for TBC1D3P1-DHX40P1 Gene
Additional Disease Information for TBC1D3P1-DHX40P1
No disorders were found for TBC1D3P1-DHX40P1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3P1-DHX40P1 Gene
Publications for TBC1D3P1-DHX40P1 Gene
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3
- The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3
Products for TBC1D3P1-DHX40P1 Gene
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Sources for TBC1D3P1-DHX40P1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
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- (122) ENCODE
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- (124) Horizon
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- (138) Monarch Initiative
- (139) DataMed
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- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
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- (178) MirGeneDB