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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.

Additional gene information for TBC1D3P1-DHX40P1 Gene

No data available for CIViC summary , 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

GeneHancer (GH) Regulatory Elements for TBC1D3P1-DHX40P1 Gene

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
GH17I059963 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.2 +54.5 54475 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 SP5 RNFT1-DT RNFT1 SMG8 PPM1D TUBD1 HEATR6 NDUFB8P2 ENSG00000274378 DHX40 ENSG00000267318
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Genomic Locations for TBC1D3P1-DHX40P1 Gene

Genomic Locations for TBC1D3P1-DHX40P1 Gene
chr17:59,962,363-60,018,975
(GRCh38/hg38)
Size:
56,613 bases
Orientation:
Minus strand
chr17:58,039,724-58,096,413
(GRCh37/hg19)

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

Drugs & Compounds for TBC1D3P1-DHX40P1 Gene

No Compound Related Data Available

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:

Clone Products

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 CGAP 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 , 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

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 Variation AA Info Type
rs1000035832 -- 59,992,875(-) T/C intron_variant
rs1000155753 -- 59,978,481(-) C/A intron_variant
rs1000186612 -- 59,990,140(-) A/C intron_variant
rs1000253871 -- 59,987,793(-) G/A intron_variant
rs1000280275 -- 59,971,369(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) 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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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

  1. 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 58
  2. 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 58
  3. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 58

Products for TBC1D3P1-DHX40P1 Gene

Sources for TBC1D3P1-DHX40P1 Gene

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