Property Summary

NCBI Gene PubMed Count 5
PubMed Score 2.00
PubTator Score 0.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
diabetes mellitus 1,663

Synonym

Accession Q99440 Q17R65
Symbols aC1
C4orf6

Gene

 Compartment GO Term (0)

Gene RIF (1)

PMID Text
18454448 In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected

AA Sequence

MDTQKQIHKTHNSKNQFFTIFFFLSVEFGKEGTRKNFYLLLSIGHYGRKSRRADLGTADTADKTEPECFA      1 - 70
ASWTFDPNPSVTVSGAHSTAVHQ                                                    71 - 93
//

Text Mined References (6)

PMID Year Title
18454448 2008 Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9016955 1997 Fluorescent differential display analysis of gene expression in differentiating neuroblastoma cells.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.