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C3P1 (Complement Component 3 Precursor Pseudogene) is a Pseudogene. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH19J010036 | Enhancer | 0.9 | Ensembl ENCODE | 600.7 | -0.8 | -800 | 0.8 | GATAD2A ATF7 REST SP1 CEBPA SOX13 CEBPB FOXA2 ATF3 YY1 | C3P1 MIR5589 lnc-RDH8-1 piR-57133-301 RDH8 SHFL | |
GH19J010078 | Enhancer | 0.4 | Ensembl | 5.2 | +40.7 | 40698 | 0.6 | YY1 HNF4A SP1 | C3P1 lnc-C19orf66-1 SHFL RDH8 | |
GH19J010071 | Enhancer | 0.6 | ENCODE | 0.3 | +33.5 | 33497 | 0.2 | HNRNPL SP1 FOXA2 ATF3 YY1 GABPA ZBTB33 JUND NR2F2 RAD21 | HSALNG0123887 PPAN PPAN-P2RY11 ANGPTL6 RDH8 COL5A3 EIF3G OLFM2 SHFL lnc-RDH8-3 | |
GH19J010072 | Enhancer | 0.6 | Ensembl | 0.3 | +33.8 | 33798 | 0.4 | SP1 FOXA2 ATF3 YY1 GABPA ZBTB33 JUND NR2F2 RAD21 HNF4A | HSALNG0123887 ANGPTL6 PPAN PPAN-P2RY11 RDH8 COL5A3 EIF3G OLFM2 lnc-C19orf66-1 SHFL | |
GH19J010068 | Enhancer | 0.3 | Ensembl | 0.3 | +30.8 | 30798 | 0.4 | ZMYM3 | HSALNG0123887 SHFL lnc-RDH8-3 C3P1 RDH8 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004866 | endopeptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10403787 | - | p.Asp230Asn | |||
rs1993466 | - | p.Asp251Gly | |||
rs4552116 | - | p.Leu262Arg | |||
rs8113341 | - | p.Gln172Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2558738 | CNV | deletion | 19546169 |
esv3643647 | CNV | loss | 21293372 |
nsv1131399 | CNV | deletion | 24896259 |
nsv2414 | CNV | insertion | 18451855 |
nsv458355 | CNV | loss | 19166990 |
nsv578606 | CNV | loss | 21841781 |
No disorders were found for C3P1 Gene.