AutismKB 2.0

Evidence Details for TUBG1


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Basic Information Top
Gene Symbol:TUBG1 ( GCP-1,TUBG,TUBGCP1 )
Gene Full Name: tubulin, gamma 1
Band: 17q21.31
Quick LinksEntrez ID:7283; OMIM: 191135; Uniprot ID:TBG1_HUMAN; ENSEMBL ID: ENSG00000131462; HGNC ID: 12417
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TUBG1|7283|nucleotide
ATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGATTGGGTTCGAGTTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGC
ATCGTGGAGGAGTTCGCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAGGCAGACGATGAGCACTACATCCCCCGGGCCGTGCTGCTGGACTTGGAA
CCCCGGGTGATCCACTCCATCCTCAACTCCCCCTATGCCAAGCTCTACAACCCAGAGAACATCTACCTGTCGGAACATGGAGGAGGAGCTGGCAACAACTGGGCC
AGCGGATTCTCCCAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGGCTTTGTGCTGTGTCACTCC
ATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAG
GACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGGTGCTGGACAACACAGCCCTG
AACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTAC
CCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAG
TCAGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCAC
TGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCG
TGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCC
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>TUBG1|7283|protein
MPREIITLQLGQCGNQIGFEFWKQLCAEHGISPEGIVEEFATEGTDRKDVFFYQADDEHYIPRAVLLDLEPRVIHSILNSPYAKLYNPENIYLSEHGGGAGNNWA
SGFSQGEKIHEDIFDIIDREADGSDSLEGFVLCHSIAGGTGSGLGSYLLERLNDRYPKKLVQTYSVFPNQDEMSDVVVQPYNSLLTLKRLTQNADCVVVLDNTAL
NRIATDRLHIQNPSFSQINQLVSTIMSASTTTLRYPGYMNNDLIGLIASLIPTPRLHFLMTGYTPLTTDQSVASVRKTTVLDVMRRLLQPKNVMVSTGRDRQTNH
CYIAILNIIQGEVDPTQVHKSLQRIRERKLANFIPWGPASIQVALSRKSPYLPSAHRVSGLMMANHTSISSLFERTCRQYDKLRKREAFLEQFRKEDMFKDNFDE
MDTSREIVQQLIDEYHAATRPDYISWGTQEQ
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top