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Aliases for TBC1D3P1-DHX40P1 Gene

Aliases for TBC1D3P1-DHX40P1 Gene

  • TBC1D3P1-DHX40P1 Readthrough, Transcribed Pseudogene 2 3 5
  • TBC1D3P1-DHX40P1 Readthrough (Non-Protein Coding) 2 3
  • TBC1 Domain Family, Member 3 Pseudogene 1 3
  • TBC1D3-DHX40 Pseudogene 3
  • TBC1D3P1 3
  • DHX40P1 3
  • DHX40P 3

External Ids for TBC1D3P1-DHX40P1 Gene

Previous GeneCards Identifiers for TBC1D3P1-DHX40P1 Gene

  • GC17M058054
  • GC17M058039

Summaries for TBC1D3P1-DHX40P1 Gene

Entrez Gene Summary 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.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3P1-DHX40P1 Gene

Genomics for TBC1D3P1-DHX40P1 Gene

Regulatory Elements for TBC1D3P1-DHX40P1 Gene

Enhancers for TBC1D3P1-DHX40P1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F060598 1.5 FANTOM5 ENCODE 16.2 -581.9 -581906 4.9 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RPS6KB1 C17orf82 PPM1D KRT18P61 DHX40P1 TBC1D3P1 TBC1D3P1-DHX40P1 ENSG00000266934 TBX2-AS1 RPS29P21
GH17F059347 1.2 Ensembl ENCODE 16.2 +670.8 670836 1.5 SIN3A NFXL1 FEZF1 YBX1 ZNF335 ZNF23 GLIS2 ZNF366 ZNF263 ZNF280D SPDYE22P DHX40P1 SETP3 TBC1D3P1-DHX40P1 TBC1D3P1 RPS29P21 IGBP1P2 PIR37538 ENSG00000278863
GH17F059564 1.2 ENCODE 16.2 +453.0 453036 2.1 CREB3L1 YBX1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 NFYC MEF2D NDUFB8P2 DHX40 SMG8 APPBP2 TBC1D3P1 TBC1D3P1-DHX40P1 SPDYE22P DHX40P1 RPS6KB1 RPS29P21
GH17F059209 1.2 ENCODE 16.2 +808.6 808638 2.1 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 RPS6KB1 NDUFB8P2 DHX40 TRIM37 SPDYE22P DHX40P1 TBC1D3P1 TBC1D3P1-DHX40P1 SETP3 RPS29P21
GH17F060523 1.1 ENCODE 16.2 -506.5 -506537 3.3 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 KRT18P61 TBC1D3P1 TBC1D3P1-DHX40P1 DHX40P1 RPS29P21 CLTC APPBP2 GC17P060514
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D3P1-DHX40P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D3P1-DHX40P1 Gene

Chromosome:
17
Start:
59,962,363 bp from pter
End:
60,018,975 bp from pter
Size:
56,613 bases
Orientation:
Minus strand

Genomic View for TBC1D3P1-DHX40P1 Gene

Genes around TBC1D3P1-DHX40P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3P1-DHX40P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3P1-DHX40P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3P1-DHX40P1 Gene

Proteins for TBC1D3P1-DHX40P1 Gene

Post-translational modifications for TBC1D3P1-DHX40P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TBC1D3P1-DHX40P1 Gene

Domains & Families for TBC1D3P1-DHX40P1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TBC1D3P1-DHX40P1 Gene

Function for TBC1D3P1-DHX40P1 Gene

Animal Model Products

Clone Products

Flow Cytometry Products

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 and Gene Ontology (GO) - Cellular Components for TBC1D3P1-DHX40P1 Gene

Pathways & Interactions for TBC1D3P1-DHX40P1 Gene

SuperPathways for TBC1D3P1-DHX40P1 Gene

No Data Available

Interacting Proteins for TBC1D3P1-DHX40P1 Gene

Gene Ontology (GO) - Biological Process for TBC1D3P1-DHX40P1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3P1-DHX40P1 Gene

Transcripts for TBC1D3P1-DHX40P1 Gene

mRNA/cDNA for TBC1D3P1-DHX40P1 Gene

(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBC1D3P1-DHX40P1 Gene

TBC1D3P1-DHX40P1 readthrough transcribed pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3P1-DHX40P1 Gene

No ASD Table

Relevant External Links for TBC1D3P1-DHX40P1 Gene

GeneLoc Exon Structure for
TBC1D3P1-DHX40P1
ECgene alternative splicing isoforms for
TBC1D3P1-DHX40P1

Expression for TBC1D3P1-DHX40P1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

SOURCE GeneReport for Unigene cluster for TBC1D3P1-DHX40P1 Gene:

Hs.600085
genes like me logo Genes that share expression patterns with TBC1D3P1-DHX40P1: view

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 and mRNA Expression by UniProt/SwissProt for TBC1D3P1-DHX40P1 Gene

Orthologs for TBC1D3P1-DHX40P1 Gene

Evolution for TBC1D3P1-DHX40P1 Gene

ENSEMBL:
Gene Tree for TBC1D3P1-DHX40P1 (if available)
TreeFam:
Gene Tree for TBC1D3P1-DHX40P1 (if available)

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

Sequence variations from dbSNP and Humsavar for TBC1D3P1-DHX40P1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10853017 -- 59,998,643(+) AGAGG(C/T)AACAG intron-variant
rs111281635 -- 59,982,655(+) GTAAT(C/T)CCAGC intron-variant
rs111305351 -- 60,004,018(+) TTTCC(A/C)ATAGA intron-variant
rs111314354 -- 59,975,929(+) TGGTA(C/G)AATAG intron-variant
rs111318943 -- 60,013,103(+) AACAG(A/G)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3P1-DHX40P1 Gene

Variant ID Type Subtype PubMed ID
nsv978444 CNV duplication 23825009
nsv962349 CNV duplication 23825009
nsv962348 CNV duplication 23825009
nsv960130 CNV duplication 23825009
nsv9578 CNV gain+loss 18304495
nsv833502 CNV gain 17160897
nsv7295 OTHER inversion 18451855
nsv471702 CNV gain 15918152
nsv428348 CNV gain 18775914
nsv1149934 CNV duplication 26484159
nsv1124757 CNV duplication 24896259
nsv1118598 CNV duplication 24896259
nsv1075938 CNV duplication 25765185
esv3640917 CNV loss 21293372
esv3640916 CNV loss 21293372
esv3389314 CNV duplication 20981092
esv3331748 CNV duplication 20981092
esv28791 CNV gain+loss 19812545
esv2758700 CNV gain+loss 17122850
esv2676797 CNV deletion 23128226
dgv1788e59 CNV duplication 20981092

Relevant External Links for TBC1D3P1-DHX40P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3P1-DHX40P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for TBC1D3P1-DHX40P1 Gene

Disorders for TBC1D3P1-DHX40P1 Gene

Relevant External Links for TBC1D3P1-DHX40P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  3. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3 64

Products for TBC1D3P1-DHX40P1 Gene

Sources for TBC1D3P1-DHX40P1 Gene

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