Property Summary

NCBI Gene PubMed Count 14
Grant Count 15
R01 Count 14
Funding $3,759,549.9
PubMed Score 12.99
PubTator Score 8.69

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
25824302 The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development.
22733134 DISP-1 is required for non-small cell lung carcinoma cells proliferation
20951845 Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype.
20799323 report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH suggests DISP1 may be CDH candidate gene
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19184110 describe two independent families with truncating mutations in DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene

AA Sequence

MAMSNGNNDFVVLSNSSIATSAANPSPLTPCDGDHAAQQLTPKEATRTKVSPNGCLQLNGTVKSSFLPLD      1 - 70
NQRMPQMLPQCCHPCPYHHPLTSHSSHQECHPEAGPAAPSALASCCMQPHSEYSASLCPNHSPVYQTTCC     71 - 140
LQPSPSFCLHHPWPDHFQHQPVQQHIANIRPSRPFKLPKSYAALIADWPVVVLGMCTMFIVVCALVGVLV    141 - 210
PELPDFSDPLLGFEPRGTAIGQRLVTWNNMVKNTGYKATLANYPFKYADEQAKSHRDDRWSDDHYEREKR    211 - 280
EVDWNFHKDSFFCDVPSDRYSRVVFTSSGGETLWNLPAIKSMCNVDNSRIRSHPQFGDLCQRTTAASCCP    281 - 350
SWTLGNYIAILNNRSSCQKIVERDVSHTLKLLRTCAKHYQNGTLGPDCWDMAARRKDQLKCTNVPRKCTK    351 - 420
YNAVYQILHYLVDKDFMTPKTADYATPALKYSMLFSPTEKGESMMNIYLDNFENWNSSDGVTTITGIEFG    421 - 490
IKHSLFQDYLLMDTVYPAIAIVIVLLVMCVYTKSMFITLMTMFAIISSLIVSYFLYRVVFHFEFFPFMNL    491 - 560
TALIILVGIGADDAFVLCDVWNYTKFDKPHAETSETVSITLQHAALSMFVTSFTTAAAFYANYVSNITAI    561 - 630
RCFGVYAGTAILVNYVLMVTWLPAVVVLHERYLLNIFTCFKKPQQQIYDNKSCWTVACQKCHKVLFAISE    631 - 700
ASRIFFEKVLPCIVIKFRYLWLFWFLALTVGGAYIVCINPKMKLPSLELSEFQVFRSSHPFERYDAEYKK    701 - 770
LFMFERVHHGEELHMPITVIWGVSPEDNGNPLNPKSKGKLTLDSSFNIASPASQAWILHFCQKLRNQTFF    771 - 840
YQTDEQDFTSCFIETFKQWMENQDCDEPALYPCCSHWSFPYKQEIFELCIKRAIMELERSTGYHLDSKTP    841 - 910
GPRFDINDTIRAVVLEFQSTYLFTLAYEKMHQFYKEVDSWISSELSSAPEGLSNGWFVSNLEFYDLQDSL    911 - 980
SDGTLIAMGLSVAVAFSVMLLTTWNIIISLYAIISIAGTIFVTVGSLVLLGWELNVLESVTISVAVGLSV    981 - 1050
DFAVHYGVAYRLAPDPDREGKVIFSLSRVGSAMAMAALTTFVAGAMMMPSTVLAYTQLGTFMMLIMCISW   1051 - 1120
AFATFFFQCMCRCLGPQGTCGQIPLPKKLQCSAFSHALSTSPSDKGQSKTHTINAYHLDPRGPKSELEHE   1121 - 1190
FYELEPLASHSCTAPEKTTYEETHICSEFFNSQAKNLGMPVHAAYNSELSKSTESDAGSALLQPPLEQHT   1191 - 1260
VCHFFSLNQRCSCPDAYKHLNYGPHSCQQMGDCLCHQCSPTTSSFVQIQNGVAPLKATHQAVEGFVHPIT   1261 - 1330
HIHHCPCLQGRVKPAGMQNSLPRNFFLHPVQHIQAQEKIGKTNVHSLQRSIEEHLPKMAEPSSFVCRSTG   1331 - 1400
SLLKTCCDPENKQRELCKNRDVSNLESSGGTENKAGGKVELSLSQTDASVNSEHFNQNEPKVLFNHLMGE   1401 - 1470
AGCRSCPNNSQSCGRIVRVKCNSVDCQMPNMEANVPAVLTHSELSGESLLIKTL                   1471 - 1524
//

Text Mined References (15)

PMID Year Title
25824302 2016 Whole-genome association analysis of treatment response in obsessive-compulsive disorder.
25416956 2014 A proteome-scale map of the human interactome network.
22733134 2013 The hedgehog processing pathway is required for NSCLC growth and survival.
20951845 New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
20799323 2010 Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19184110 2009 Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16258256 2005 Hedgehog signaling pathway and gastric cancer.
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