Property Summary

NCBI Gene PubMed Count 30
PubMed Score 171.73
PubTator Score 53.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -1.100 6.2e-06
astrocytic glioma 1.500 1.4e-02
oligodendroglioma 1.200 2.9e-02
psoriasis -1.200 6.3e-04
osteosarcoma 1.888 1.9e-03
tuberculosis 1.300 9.6e-06
intraductal papillary-mucinous adenoma (... 1.200 4.5e-03
Pick disease 1.800 1.5e-06
ovarian cancer -1.900 6.9e-09

Gene RIF (20)

PMID Text
26104215 Novel VPS13B deletion mutations in three large Pakistani Cohen Syndrome families suggests a Baloch variant with Autistic-Like features.
25492866 Association of COH1 with the Golgi complex is mediated by its interaction with RAB6 and is required for neurite outgrowth.
25060287 This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis.
24311531 This observation emphasizes that VPS13B analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the VPS13B phenotype spectrum.
21865173 COH1 as a Golgi-associated matrix protein required for Golgi integrity.
21353197 This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients.
20656880 VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20461111 This study confirms that COH1 copy number variations are a frequent cause of Cohen syndrome and consist of intragenic deletions as well as duplications.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19680589 VPS13B gene, via affecting bone mineral density and femoral neck cross-sectional geometric parameters, is a novel osteoporosis risk gene.
19680589 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19533689 Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
19320733 Observational study of gene-disease association. (HuGE Navigator)
19006247 Mutation analysis of COH1 in twelve novel patients with Cohen syndrome from nine families, was carried out.
18655112 A new deletion in COH1 causing Cohen syndrome was detected in a Greek island population.
17990063 detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families
15154116 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome
15141358 COH1 mutations is associated with Cohen syndrome
12730828 A mutated gene on chromosome 8q22 found by haplotype analysis in patients with this syndrome.

AA Sequence

MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVP      1 - 70
WTKLGSEPVVITINTMECILKLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYV     71 - 140
QSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYTVGELWDRAFMDISATDLVLRKVINFSDCTV    141 - 210
CLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQLPMFIRIMQL    211 - 280
GIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAW    281 - 350
SFVPAIVSYDDGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKS    351 - 420
KEVLCWEQEGTTVEALMMGEPFFDCQIGFVGCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKG    421 - 490
FTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDYLYTMENTSGKGSTNQQDFSS    491 - 560
GKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA    561 - 630
LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINL    631 - 700
EHSVPMYAEQLVHVVSSLTQPSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGK    701 - 770
LLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQAIYQSWSHLGNVSSSAVIEALINEIFLSIGV    771 - 840
KSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSDTKDLHSTKWL    841 - 910
NESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQP    911 - 980
VVAVPLVMPVCRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPE    981 - 1050
ERMKEFIGIVWNAVKHLTLQLEVQSCCVFIPNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQ   1051 - 1120
IKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQVTLCLVEPMGCTSTLAVTSQ   1121 - 1190
KLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV   1191 - 1260
PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVL   1261 - 1330
PKITIKLFAPDPENKGTEVCMVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSSLGEECWSLGQCGGV   1331 - 1400
FLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLDGTHQQHGFLSLTYTKAVTKNVRHKLTSRNE   1401 - 1470
RRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLT   1471 - 1540
SRNLPLIYVNTSVIRIFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRAL   1541 - 1610
NLGILRDPGSEIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQ   1611 - 1680
ERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLDFFLSVAQVQLLHQLI   1681 - 1750
VANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDSVKIRIVQIEQHSGASQHRIA   1751 - 1820
RPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQA   1821 - 1890
CISTVTAEDLLRSSISFPSGKKIGVLSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVS   1891 - 1960
QPSLLLSCHHRKQRVEVSIFDAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFIT   1961 - 2030
LQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDLPVSKY   2031 - 2100
YRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASLSNLNGSLSVK   2101 - 2170
ATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRG   2171 - 2240
GLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYV   2241 - 2310
QDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSL   2311 - 2380
EYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQS   2381 - 2450
TCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL   2451 - 2520
EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDC   2521 - 2590
TVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHS   2591 - 2660
HQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQIIICGR   2661 - 2730
QIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCL   2731 - 2800
ESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSE   2801 - 2870
TQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPE   2871 - 2940
KSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQ   2941 - 3010
VPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGA   3011 - 3080
FPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPG   3081 - 3150
GEQPAMKSSSLPCWDLMPDISQSVLDASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLG   3151 - 3220
NFRENGFCTRAIVLTYQEHLGVTYLTLSEDPSPRVIIHNRCPVKMLIKENIKDIPKFEVYCKKIPSECSI   3221 - 3290
HHELYHQISSYPDCKTKDLLPSLLLRVEPLDEVTTEWSDAIDINSQGTQVVFLTGFGYVYVDVVHQCGTV   3291 - 3360
FITVAPEGKAGPILTNTNRAPEKIVTFKMFITQLSLAVFDDLTHHKASAELLRLTLDNIFLCVAPGAGPL   3361 - 3430
PGEEPVAALFELYCVEICCGDLQLDNQLYNKSNFHFAVLVCQGEKAEPIQCSKMQSLLISNKELEEYKEK   3431 - 3500
CFIKLCITLNEGKSILCDINEFSFELKPARLYVEDTFVYYIKTLFDTYLPNSRLAGHSTHLSGGKQVLPM   3501 - 3570
QVTQHARALVNPVKLRKLVIQPVNLLVSIHASLKLYIASDHTPLSFSVFERGPIFTTARQLVHALAMHYA   3571 - 3640
AGALFRAGWVVGSLDILGSPASLVRSIGNGVADFFRLPYEGLTRGPGAFVSGVSRGTTSFVKHISKGTLT   3641 - 3710
SITNLATSLARNMDRLSLDEEHYNRQEEWRRQLPESLGEGLRQGLSRLGISLLGAIAGIVDQPMQNFQKT   3711 - 3780
SEAQASAGHKAKGVISGVGKGIMGVFTKPIGGAAELVSQTGYGILHGAGLSQLPKQRHQPSDLHADQAPN   3781 - 3850
SHVKYVWKMLQSLGRPEVHMALDVVLVRGSGQEHEGCLLLTSEVLFVVSVSEDTQQQAFPVTEIDCAQDS   3851 - 3920
KQNNLLTVQLKQPRVACDVEVDGVRERLSEQQYNRLVDYITKTSCHLAPSCSSMQIPCPVVAAEPPPSTV   3921 - 3990
KTYHYLVDPHFAQVFLSKFTMVKNKALRKGFP                                         3991 - 4022
//

Text Mined References (36)

PMID Year Title
26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
25492866 2015 Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.
25060287 2015 Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
24665060 2014 Genome-wide association study of smoking behaviours among Bangladeshi adults.
24311531 2014 Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22745009 2012 Multiple loci influencing hippocampal degeneration identified by genome scan.
21865173 2011 Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
21353197 2011 High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20461111 2010 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19680589 2010 Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.
19533689 2009 Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
19320733 2009 Pigmentation-related genes and their implication in malignant melanoma susceptibility.
19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
18655112 2008 Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15498460 2004 Analysis of the human VPS13 gene family.
15211651 2004 Cohen syndrome in the Ohio Amish.
15154116 2004 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9359041 Refined mapping of the Cohen syndrome gene by linkage disequilibrium.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7920642 1994 Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.