AutismKB 2.0

Evidence Details for GBE1


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Basic Information Top
Gene Symbol:GBE1 ( GBE )
Gene Full Name: glucan (1,4-alpha-), branching enzyme 1
Band: 3p12.2
Quick LinksEntrez ID:2632; OMIM: 607839; Uniprot ID:GLGB_HUMAN; ENSEMBL ID: ENSG00000114480; HGNC ID: 4180
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GBE1|2632|nucleotide
ATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCCGCCCTGGCTGACGTGCCCGAACTGGCCAGACTCCTGGAGATCGAC
CCGTACTTGAAGCCCTACGCCGTGGACTTCCAGCGCAGGTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCC
AGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAAT
GGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCC
AAATTAAAGGTAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGG
ATACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAATTTCTTCCCATGAA
GGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTCAGTTGATGGCAATCATGGAGCATGCTTAC
TATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGT
ATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCT
AGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCCAGCTGGGAAGTTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGC
TTTGATGGATTTCGTTTTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGGTCAAGGTTTCTCAGGTGATTACAGTGAATATTTCGGACTACAAGTA
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>GBE1|2632|protein
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFN
GWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHE
GKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGP
RGTHDLWDSRLFAYSSWEVLRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPAL
CSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRL
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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 (0) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top