AutismKB 2.0

Evidence Details for TUBA3D


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TUBA3D ( H2-ALPHA,TUBA3C )
Gene Full Name: tubulin, alpha 3d
Band: 2q21.1
Quick LinksEntrez ID:113457; OMIM: NA; Uniprot ID:TBA3C_HUMAN; ENSEMBL ID: ENSG00000075886; HGNC ID: 24071
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TUBA3D|113457|nucleotide
ATGCGCGAGTGTATCTCTATCCACGTGGGGCAGGCGGGTGTCCAGATCGGCAATGCCTGCTGGGAACTGTACTGCCTTGAACATGGAATTCAGCCCGATGGCCAA
ATGCCAAGTGATAAAACCATTGGTGGCGGGGACGACTCCTTCAACACGTTCTTCAGTGAGACTGGAGCTGGCAAGCACGTGCCCAGAGCAGTGTTTGTGGACCTG
GAGCCCACTGTGGTCGATGAAGTGCGCACAGGGACCTACAGGCAGCTCTTCCACCCGGAGCAGCTGATCACCGGGAAGGAAGATGCAGCCAATAATTACGCCAGG
GGCCATTACACCATCGGCAAGGAGATTGTTGACCTAGTCCTGGACCGGATCCGCAAACTGGCGGATCTGTGCACAGGACTGCAGGGCTTCCTCATCTTCCACAGC
TTTGGGGGCGGCACTGGCTCTGGGTTCGCATCTCTGCTCATGGAGCGGCTCTCAGTGGATTACGGCAAGAAGTCCAAGCTAGAGTTTGCCATTTACCCAGCCCCC
CAGGTCTCCACAGCCGTGGTGGAGCCCTACAACTCCATCCTGACCACCCACACGACCCTGGAACATTCTGACTGTGCCTTCATGGTCGACAATGAAGCCATCTAT
GACATATGTCGGCGCAACCTGGACATTGAACGTCCCACGTACACCAACCTCAATCGCCTGATTGGGCAGATCGTGTCCTCCATCACAGCCTCCCTGCGATTTGAT
GGGGCCCTGAATGTGGACTTGACGGAATTCCAGACCAACCTAGTGCCGTACCCCCGCATCCACTTCCCCCTGGCCACCTATGCCCCAGTCATCTCAGCTGAGAAG
GCCTACCACGAGCAGCTGTCTGTGGCCGAGATCACCAATGCCTGCTTCGAGCCAGCCAATCAAATGGTCAAGTGTGACCCTCGCCACGGCAAGTACATGGCCTGC
TGCATGTTGTACAGGGGGGACGTGGTCCCCAAAGACGTCAACGCGGCCATCGCCACCATCAAGACCAAGCGCACCATCCAGTTTGTGGATTGGTGCCCGACTGGA
TTTAAGGTGGGCATTAACTACCAGCCCCCCACAGTGGTCCCCGGGGGAGACCTGGCCAAGGTGCAGCGGGCCGTGTGCATGCTGAGCAACACCACGGCCATTGCG
Show »

>TUBA3D|113457|protein
MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAANNYAR
GHYTIGKEIVDLVLDRIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVDYGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIY
DICRRNLDIERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMAC
CMLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
AREDLAALEKDYEEVGVDSVEAEAEEGEEY
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top