Evidence Details for GOLGB1
Basic Information Top
Gene Symbol: | GOLGB1 ( GCP,GCP372,GIANTIN,GOLIM1 ) |
---|---|
Gene Full Name: | golgin B1 |
Band: | 3q13.33 |
Quick Links | Entrez 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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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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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 microarray | ASD | - | - | - | - | 2195 | 2519 | 4714 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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