Property Summary

NCBI Gene PubMed Count 11
PubMed Score 10.51
PubTator Score 3.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Polydactyly 93
Laurin-Sandrow syndrome 3
Disease Target Count P-value
posterior fossa group B ependymoma 1530 1.89926973670312E-6
sonic hedgehog group medulloblastoma 1482 4.84517366067271E-5
atypical teratoid / rhabdoid tumor 4369 2.26931147605527E-4
medulloblastoma, large-cell 6234 9.59303357466651E-4
interstitial cystitis 2299 0.00102616554028562
head and neck cancer and chronic obstructive pulmonary disease 237 0.0247593901471067
Disease Target Count Z-score Confidence
Syndactyly 56 4.16 2.1

Expression

Synonym

Accession Q8TD10 D3DSA4 Q7Z3J0 Q8IV14
Symbols CCDC193

Gene

  Ortholog (7)

Pathway (1)

Gene RIF (4)

PMID Text
26515020 To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19667180 Study provides compelling evidence that chromosome 14 harbors tumor suppressor genes associated with NPC and that a candidate gene, MIPOL1, is associated with tumor development.
11954550 candidate gene for mirror-image polydactyly of hands and feet anomaly. Maps to 14q13.

AA Sequence

MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSY      1 - 70
PDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTSDSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKE     71 - 140
QRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLE    141 - 210
NINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRL    211 - 280
EQELHHVKEQNQTSANNMRHLTAENNQERALKAKLLSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLS    281 - 350
QEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ    351 - 420
KLERLVDVLRKKVGTGTMRTVI                                                    421 - 442
//

Text Mined References (12)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26515020 2015 Advances in the molecular genetics of non-syndromic polydactyly.
25416956 2014 A proteome-scale map of the human interactome network.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19667180 2009 Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12700605 2003 Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
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