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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 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]
TBC1D3P1-DHX40P1 (TBC1D3P1-DHX40P1 Readthrough, Transcribed Pseudogene) is a Pseudogene.
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 |
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 |
No disorders were found for TBC1D3P1-DHX40P1 Gene.