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This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]
CCDC140 (CCDC140 Long Non-Coding RNA) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with CCDC140 include Craniofacial-Deafness-Hand Syndrome and Waardenburg's Syndrome.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J222293 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 600.7 | -1.2 | -1201 | 5.9 | PRDM10 KDM1A PRDM1 ZSCAN4 ZNF501 EZH2 ZNF600 SCRT2 POLR2A ZBTB20 | CCDC140 PAX3 CT75 RF02543-032 EPHA4 | |
GH02J222289 | Enhancer | 0.8 | FANTOM5 ENCODE | 4.2 | -7.1 | -7121 | 3.4 | KDM1A PRDM1 POLR2A EZH2 TCF7L2 OSR2 USF1 YY1 ZNF189 SIN3A | PAX3 CCDC140 RF02543-032 EPHA4 | |
GH02J222795 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE | 1.2 | +498.9 | 498854 | 4.4 | GATAD2A CTCF ATF7 TFE3 SOX13 NFKBIZ RCOR2 ZNF7 JUND FOXA1 | SGPP2 CCDC140 piR-52438-066 lnc-MOGAT1-1 ACSL3 MOGAT1 | |
GH02J222269 | Enhancer | 0.9 | UCNEbase Ensembl ENCODE | 0.3 | -28.9 | -28941 | 0.4 | EZH2 NANOG HLF | CCDC140 PAX3 RF02543-032 EPHA4 | |
GH02J222272 | Enhancer | 0.8 | UCNEbase Ensembl ENCODE | 0.3 | -25.3 | -25312 | 0.6 | EZH2 | CCDC140 PAX3 RF02543-032 EPHA4 |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS0000DBA68C_9606 | lncRNA | 1699 | 3 |
HGNC: 26514, RefSeq: NR_161172, Ensembl: ENST00000647762 (view in UCSC) , |
URS0000DB7B7D_9606 | lncRNA | 441 | 2 |
Ensembl: ENST00000440903 (view in UCSC) , LncBook: HSALNT0047778, |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC140 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
794135 | Likely Benign: not provided | 222,298,545(+) | C/A | MISSENSE_VARIANT | |
817688 | Pathogenic: not provided | 222,298,547(+) | GC/G | FRAMESHIFT_VARIANT | |
895088 | Uncertain Significance: Craniofacial-deafness-hand syndrome; Waardenburg syndrome | 222,298,714(+) | G/A | FIVE_PRIME_UTR_VARIANT | |
rs1553594554 | Likely Pathogenic: not provided | 222,298,528(+) | T/TA | SPLICE_DONOR_VARIANT | |
rs1553594600 | Pathogenic: not provided | 222,298,576(+) | GC/G | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
craniofacial-deafness-hand syndrome |
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waardenburg's syndrome |
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