AutismKB 2.0

Evidence Details for GABPB1


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Basic Information Top
Gene Symbol:GABPB1 ( BABPB2,E4TF1,E4TF1-47,E4TF1-53,E4TF1B,GABPB,GABPB2,NRF2B1,NRF2B2 )
Gene Full Name: GA binding protein transcription factor, beta subunit 1
Band: 15q21.2
Quick LinksEntrez ID:2553; OMIM: 600610; Uniprot ID:GABP1_HUMAN; ENSEMBL ID: ENSG00000104064; HGNC ID: 4074
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABPB1|2553|nucleotide
ATGTCCCTGGTAGATTTGGGAAAGAAGCTTTTAGAAGCGGCACGAGCAGGTCAAGATGATGAAGTTCGTATTTTGATGGCAAATGGAGCTCCCTTTACTACAGAC
TGGCTGGGAACTTCTCCACTTCATCTAGCAGCACAGTATGGTCATTATTCCACCACAGAGGTACTGCTGCGAGCTGGTGTGAGCAGAGATGCCAGAACCAAAGTG
GACCGAACACCATTACATATGGCAGCTTCTGAGGGCCATGCCAGCATAGTAGAGGTTTTACTTAAGCATGGTGCTGATGTCAATGCAAAGGACATGTTAAAGATG
ACAGCTCTCCATTGGGCCACAGAACACAATCATCAAGAGGTGGTGGAACTTTTAATCAAATATGGTGCTGATGTACACACGCAAAGTAAATTTTGTAAAACTGCA
TTTGATATTTCAATAGACAATGGAAATGAAGATTTAGCAGAGATATTACAGATTGCTATGCAGAACCAAATCAACACAAACCCAGAGAGTCCTGACACTGTGACA
ATACATGCTGCAACACCACAGTTTATCATTGGACCTGGAGGGGTGGTGAACCTAACAGGTCTGGTATCTTCAGAAAATTCATCCAAGGCAACAGATGAAACGGGT
GTATCTGCTGTTCAGTTTGGAAACTCTTCTACATCAGTATTAGCTACATTAGCTGCCTTAGCTGAAGCATCTGCTCCATTGTCCAATTCTTCAGAAACTCCAGTA
GTGGCCACAGAAGAAGTAGTTACTGCAGAATCTGTGGATGGTGCCATTCAGCAAGTAGTTAGTTCAGGGGGTCAGCAAGTCATCACAATAGTTACAGATGGAATT
CAGCTTGGAAATTTGCACTCTATTCCAACCAGTGGAATTGGTCAGCCCATCATTGTGACCATGCCAGATGGACAACAAGTATTAACAGTACCAGCAACAGACATT
GCTGAAGAAACTGTTATAAGTGAAGAACCACCAGCTAAGAGACAATGTATCGAAATAATTGAAAACCGGGTGGAATCTGCAGAAATAGAAGTAAGGAGTCTTTTA
CCCGGTGTGCTTTGCCGCAGTCATCCAAAATAA
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>GABPB1|2553|protein
MSLVDLGKKLLEAARAGQDDEVRILMANGAPFTTDWLGTSPLHLAAQYGHYSTTEVLLRAGVSRDARTKVDRTPLHMAASEGHASIVEVLLKHGADVNAKDMLKM
TALHWATEHNHQEVVELLIKYGADVHTQSKFCKTAFDISIDNGNEDLAEILQIAMQNQINTNPESPDTVTIHAATPQFIIGPGGVVNLTGLVSSENSSKATDETG
VSAVQFGNSSTSVLATLAALAEASAPLSNSSETPVVATEEVVTAESVDGAIQQVVSSGGQQVITIVTDGIQLGNLHSIPTSGIGQPIIVTMPDGQQVLTVPATDI
AEETVISEEPPAKRQCIEIIENRVESAEIEVRSLLPGVLCRSHPK

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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top