Property Summary

NCBI Gene PubMed Count 6
Grant Count 1
Funding $40,799.14
PubMed Score 1.55
PubTator Score 2.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.800 0.000
Pick disease -1.200 0.000
progressive supranuclear palsy -1.200 0.007
ovarian cancer -1.600 0.000

Gene

 Grant Application (1)

Gene RIF (1)

PMID Text
24056535 C6orf70 plays a major role in the control of neuronal migration; its haploinsufficiency or mutation causes periventricular nodular heterotopia.

AA Sequence

MEVLIGDPITTCLSPSVYDIICNLGFQLRENCDINSIVTQNGEVCWKTITDCVSYTESEQGLDYWGSVRL      1 - 70
LGPVCEAVHSHFLSLTKGQFEIRYAPWFQWTSFPELFPEIFDALESLQSPAISLSLMKLTSCLERALGDV     71 - 140
FLLIGKECPFLLRDLLSSEELAQVFSQSVMNVLKVFVGSPCGLNLRNVLWHGFASPEEIPPKYCSMMILL    141 - 210
TAGLGQLLKSYLQNTKLTLAHRSFISLTNLEDLIVFPDVTYEVLSVLEEVMMKSAFILKIMLPYWEVALV    211 - 280
KFKSHRFADCAILLLTQLETGLRNVFATLNRCPKRLLTAESTALYTTFDQILAKHLNDGKINQLPLFLGE    281 - 350
PAMEFLWDFLNHQEGPRIRDHLSHGEINLHEFSKETTNQLLAFSLVLLLRFVDDCLLSVFKEKSAVELLI    351 - 420
SLAEGYSSRCHPVFQLKKQVLSCEESIRVWALLPFPEELTRQAVRLEDNSETNACHSLITKMTDELYHHM    421 - 490
PENRCVLKDLDRLPTETWPQLLRELCSTPVPTLFCPRIVLEVLVVLRSISEQCRRVSSQVTVASELRHRQ    491 - 560
WVERTLRSRQRQNYLRMWSSIRLLSPVLSLILLLIALELVNIHAVCGKNAHEYQQYLKFVKSILQYTENL    561 - 630
VAYTSYEKNKWNETINLTHTALLKMWTFSEKKQMLIHLAKKSTSKVLL                          631 - 678
//

Text Mined References (8)

PMID Year Title
24056535 2013 Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
23768067 2013 Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.