AutismKB 2.0

Evidence Details for GOLGB1


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Basic Information Top
Gene Symbol:GOLGB1 ( GCP,GCP372,GIANTIN,GOLIM1 )
Gene Full Name: golgin B1
Band: 3q13.33
Quick LinksEntrez ID:2804; OMIM: 602500; Uniprot ID:GOGB1_HUMAN; ENSEMBL ID: ENSG00000173230; HGNC ID: 4429
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GOLGB1|2804|nucleotide
ATGCTGAGCCGATTATCAGGATTAGCAAATGTTGTTTTGCATGAATTATCAGGAGATGATGACACTGATCAGAATATGAGGGCTCCCCTAGACCCTGAATTACAC
CAAGAATCTGACATGGAATTTAATAATACTACACAAGAAGATGTTCAGGAGCGCCTGGCTTATGCAGAGCAATTGGTGGTGGAGCTAAAAGATATTATTAGACAG
AAGGATGTTCAACTGCAGCAGAAAGATGAAGCTCTACAGGAAGAGAGAAAAGCTGCTGATAACAAAATTAAAAAACTAAAACTTCATGCGAAGGCCAAATTAACT
TCTTTGAATAAATACATAGAAGAAATGAAAGCACAAGGAGGGACTGTTCTGCCTACAGAACCTCAGTCAGAGGAGCAACTTTCCAAGCATGACAAGAGTTCTACA
GAGGAAGAGATGGAAATAGAAAAGATAAAACATAAGCTCCAGGAGAAGGAGGAACTAATCAGCACTTTGCAAGCCCAGCTTACTCAGGCACAGGCAGAACAACCT
GCACAGAGTTCTACAGAGATGGAAGAATTTGTAATGATGAAGCAACAGCTCCAGGAGAAGGAAGAATTCATTAGCACTTTACAAGCCCAGCTCAGCCAGACACAG
GCAGAGCAAGCTGCACAGCAGGTGGTCCGAGAGAAAGATGCCCGCTTTGAAACACAAGTTCGTCTTCATGAAGATGAGCTTCTTCAGTTAGTAACCCAGGCAGAT
GTGGAAACAGAGATGCAACAGAAATTGAGGGTGCTGCAAAGGAAGCTTGAGGAACACGAAGAATCCTTGGTGGGCCGTGCTCAGGTCGTTGACTTGCTGCAACAG
GAGCTGACTGCTGCTGAGCAGAGAAACCAGATTCTCTCTCAGCAGTTACAGCAGATGGAAGCTGAGCATAATACTTTGAGGAACACTGTGGAAACAGAAAGAGAG
GAGTCCAAGATTCTACTGGAAAAGATGGAACTTGAAGTGGCAGAGAGAAAATTATCCTTCCATAATCTGCAGGAAGAAATGCATCATCTTTTAGAACAGTTTGAG
CAAGCAGGCCAAGCCCAGGCTGAACTAGAGTCTCGGTATAGTGCTTTGGAGCAGAAGCACAAAGCAGAAATGGAAGAGAAGACCTCTCATATTTTGAGTCTTCAA
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>GOLGB1|2804|protein
MLSRLSGLANVVLHELSGDDDTDQNMRAPLDPELHQESDMEFNNTTQEDVQERLAYAEQLVVELKDIIRQKDVQLQQKDEALQEERKAADNKIKKLKLHAKAKLT
SLNKYIEEMKAQGGTVLPTEPQSEEQLSKHDKSSTEEEMEIEKIKHKLQEKEELISTLQAQLTQAQAEQPAQSSTEMEEFVMMKQQLQEKEEFISTLQAQLSQTQ
AEQAAQQVVREKDARFETQVRLHEDELLQLVTQADVETEMQQKLRVLQRKLEEHEESLVGRAQVVDLLQQELTAAEQRNQILSQQLQQMEAEHNTLRNTVETERE
ESKILLEKMELEVAERKLSFHNLQEEMHHLLEQFEQAGQAQAELESRYSALEQKHKAEMEEKTSHILSLQKTGQELQSACDALKDQNSKLLQDKNEQAVQSAQTI
QQLEDQLQQKSKEISQFLNRLPLQQHETASQTSFPDVYNEGTQAVTEENIASLQKRVVELENEKGALLLSSIELEELKAENEKLSSQITLLEAQNRTGEADREVS
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Glessner, 2009 - SNP microarrayASD - - - - 2195 2519 4714
Linkage Studies Top