AutismKB 2.0

Evidence Details for SDHA


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Basic Information Top
Gene Symbol:SDHA ( FP,SDH1,SDH2,SDHF )
Gene Full Name: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Band: 5p15.33
Quick LinksEntrez ID:6389; OMIM: 600857; Uniprot ID:DHSA_HUMAN; ENSEMBL ID: ENSG00000073578; HGNC ID: 10680
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SDHA|6389|nucleotide
ATGTCGGGGGTCCGGGGCCTGTCGCGGCTGCTGAGCGCTCGGCGCCTGGCGCTGGCCAAGGCGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTC
ACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCATTTCTGCTCAGTATCCAGTAGTGGATCATGAATTTGATGCAGTGGTGGTAGGCGCTGGA
GGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGGGTTTAATACAGCATGTGTTACCAAGCTGTTTCCTACCAGGTCACACACTGTTGCAGCACAGGGA
GGAATCAATGCTGCTCTGGGGAACATGGAGGAGGACAACTGGAGGTGGCATTTCTACGACACCGTGAAGGGCTCCGACTGGCTGGGGGACCAGGATGCCATCCAC
TACATGACGGAGCAGGCCCCCGCCGCCGTGGTCGAGCTAGAAAATTATGGCATGCCGTTTAGCAGAACTGAAGATGGGAAGATTTATCAGCGTGCATTTGGTGGA
CAGAGCCTCAAGTTTGGAAAGGGCGGGCAGGCCCATCGGTGCTGCTGTGTGGCTGATCGGACTGGCCACTCGCTATTGCACACCTTATATGGAAGGTCTCTGCGA
TATGATACCAGCTATTTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGGGGAGTGCCGTGGTGTCATCGCACTGTGCATAGAGGACGGGTCCATCCAT
CGCATAAGAGCAAAGAACACTGTTGTTGCCACAGGAGGCTACGGGCGCACCTACTTCAGCTGCACGTCTGCCCACACCAGCACTGGCGACGGCACGGCCATGATC
ACCAGGGCAGGCCTTCCTTGCCAGGACCTAGAGTTTGTTCAGTTCCACCCTACAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGA
GGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGATGTGGTGTCTCGGTCCATGACTCTGGAG
ATCCGAGAAGGAAGAGGCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCACCACCTACCTCCAGAGCAGCTGGCCACGCGCCTGCCTGGCATTTCAGAG
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>SDHA|6389|protein
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQG
GINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLR
YDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEG
GILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ
VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAV
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top