Property Summary

NCBI Gene PubMed Count 11
PubMed Score 1.67
PubTator Score 2.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
psoriasis 6685 6.6e-14
sonic hedgehog group medulloblastoma 1482 4.0e-06
osteosarcoma 7933 1.1e-03
facioscapulohumeral dystrophy 286 2.2e-03
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 1.0
Disease Target Count Z-score Confidence
Tooth agenesis 38 3.363 1.7
Uterine fibroid 29 3.19 1.6

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -2.117 1.1e-03
sonic hedgehog group medulloblastoma 2.100 4.0e-06
psoriasis -1.100 6.6e-14
facioscapulohumeral dystrophy -2.300 2.2e-03

Gene RIF (2)

PMID Text
21703634 Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MFPKSNLTVTCWVWRSMRKLFLLLSLLLSHAAHLEGKKDNQFIWKTGPWGRCTGDCGPGGVQSRAVWCFH      1 - 70
VDGWTSHLSNCGESNRPPKERSCFRVCDWHSDLFQWEVSDWHHCVLVPYARGEVKPRTAECVTAQHGLQH     71 - 140
RMVRCIQKLNRTVVANEICEHFALQPPTEQACLIPCPRDCVVSEFLPWSNCSKGCGKKLQHRTRAVIAPP    141 - 210
LFGGLQCPNLTESRACDAPISCPLGEEEYTFSLKVGPWSKCRLPHLKEINPSGRTVLDFNSDSNERVTFK    211 - 280
HQSYKAHHHSKSWAIEIGYQTRQVSCTRSDGQNAMLSLCLQDSFPLTVQSCIMPKDCETSQWSSWSPCSK    281 - 350
TCRSGSLLPGFRSRSRNVKHMAIGGGKECPELLEKEACIVEGELLQQCPRYSWRTSEWKECQVSLLLEQQ    351 - 420
DPHWHVTGPVCGGGIQTREVYCAQSVPAAAALRAKEVSRPVEKALCVGPAPLPSQLCNIPCSTDCIVSSW    421 - 490
SAWGLCIHENCHDPQGKKGFRTRQRHVLMESTGPAGHCPHLVESVPCEDPMCYRWLASEGICFPDHGKCG    491 - 560
LGHRILKAVCQNDRGEDVSGSLCPVPPPPERKSCEIPCRMDCVLSEWTEWSSCSQSCSNKNSDGKQTRSR    561 - 630
TILALAGEGGKPCPPSQALQEHRLCNDHSCMQLHWETSPWGPCSEDTLVTALNATIGWNGEATCGVGIQT    631 - 700
RRVFCVKSHVGQVMTKRCPDSTRPETVRPCFLPCKKDCIVTAFSEWTPCPRMCQAGNATVKQSRYRIIIQ    701 - 770
EAANGGQECPDTLYEERECEDVSLCPVYRWKPQKWSPCILVPESVWQGITGSSEACGKGLQTRAVSCISD    771 - 840
DNRSAEMMECLKQTNGMPLLVQECTVPCREDCTFTAWSKFTPCSTNCEATKSRRRQLTGKSRKKEKCQDS    841 - 910
DLYPLVETELCPCDEFISQPYGNWSDCILPEGRREPHRGLRVQADSKECGEGLRFRAVACSDKNGRPVDP    911 - 980
SFCSSSGYIQEKCVIPCPFDCKLSDWSSWGSCSSSCGIGVRIRSKWLKEKPYNGGRPCPKLDLKNQAQVH    981 - 1050
EAVPCYSECNQYSWVVEHWSSCKINNELRSLRCGGGTQSRKIRCVNTADGEGGAVDSNLCNQDEIPPETQ   1051 - 1120
SCSLMCPNECVMSEWGLWSKCPQSCDPHTMQRRTRHLLRPSLNSRTCAEDSQVQPCLLNENCFQFQYNLT   1121 - 1190
EWSTCQLSENAPCGQGVRTRLLSCVCSDGKPVSMDQCEQHNLEKPQRMSIPCLVECVVNCQLSGWTAWTE   1191 - 1260
CSQTCGHGGRMSRTRFIIMPTQGEGRPCPTELTQEKTCPVTPCYSWVLGNWSACKLEGGDCGEGVQIRSL   1261 - 1330
SCMVHSGSISHAAGRVEDALCGEMPFQDSILKQLCSVPCPGDCHLTEWSEWSTCELTCIDGRSFETVGRQ   1331 - 1400
SRSRTFIIQSFENQDSCPQQVLETRPCTGGKCYHYTWKASLWNNNERTVWCQRSDGVNVTGGCSPQARPA   1401 - 1470
AIRQCIPACRKPFSYCTQGGVCGCEKGYTEIMKSNGFLDYCMKVPGSEDKKADVKNLSGKNRPVNSKIHD   1471 - 1540
IFKGWSLQPLDPDGRVKIWVYGVSGGAFLIMIFLIFTSYLVCKKPKPHQSTPPQQKPLTLAYDGDLDM     1541 - 1608
//

Text Mined References (11)

PMID Year Title
24172245 2013 A genome-wide association study of third molar agenesis in Japanese and Korean populations.
24124411 2013 Genome-wide association study of liver enzymes in korean children.
23761726 2013 Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
23144319 2013 Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
21703634 2011 A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
20686608 2010 Genome-wide association study of pancreatic cancer in Japanese population.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11214970 2000 Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.