AutismKB 2.0

Evidence Details for STOML2


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Basic Information Top
Gene Symbol:STOML2 ( SLP-2 )
Gene Full Name: stomatin (EPB72)-like 2
Band: 9p13.3
Quick LinksEntrez ID:30968; OMIM: 608292; Uniprot ID:STML2_HUMAN; ENSEMBL ID: ENSG00000165283; HGNC ID: 14559
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STOML2|30968|nucleotide
ATGCTGGCGCGCGCGGCGCGGGGCACTGGGGCCCTTTTGCTGAGGGGCTCTCTACTGGCTTCTGGCCGCGCTCCGCGCCGCGCCTCCTCTGGATTGCCCCGAAAC
ACCGTGGTACTGTTCGTGCCGCAGCAGGAGGCCTGGGTGGTGGAGCGAATGGGCCGATTCCACCGGATCCTGGAGCCTGGTTTGAACATCCTCATCCCTGTGTTA
GACCGGATCCGATATGTGCAGAGTCTCAAGGAAATTGTCATCAACGTGCCTGAGCAGTCGGCTGTGACTCTCGACAATGTAACTCTGCAAATCGATGGAGTCCTT
TACCTGCGCATCATGGACCCTTACAAGGCAAGCTACGGTGTGGAGGACCCTGAGTATGCCGTCACCCAGCTAGCTCAAACAACCATGAGATCAGAGCTCGGCAAA
CTCTCTCTGGACAAAGTCTTCCGGGAACGGGAGTCCCTGAATGCCAGCATTGTGGATGCCATCAACCAAGCTGCTGACTGCTGGGGTATCCGCTGCCTCCGTTAT
GAGATCAAGGATATCCATGTGCCACCCCGGGTGAAAGAGTCTATGCAGATGCAGGTGGAGGCAGAGCGGCGGAAACGGGCCACAGTTCTAGAGTCTGAGGGGACC
CGAGAGTCGGCCATCAATGTGGCAGAAGGGAAGAAACAGGCCCAGATCCTGGCCTCCGAAGCAGAAAAGGCTGAACAGATAAATCAGGCAGCAGGAGAGGCCAGT
GCAGTTCTGGCGAAGGCCAAGGCTAAAGCTGAAGCTATTCGAATCCTGGCTGCAGCTCTGACACAACATAATGGAGATGCAGCAGCTTCACTGACTGTGGCCGAG
CAGTATGTCAGCGCGTTCTCCAAACTGGCCAAGGACTCCAACACTATCCTACTGCCCTCCAACCCTGGCGATGTCACCAGCATGGTGGCTCAGGCCATGGGTGTA
TATGGAGCCCTCACCAAAGCCCCAGTGCCAGGGACTCCAGACTCACTCTCCAGTGGGAGCAGCAGAGATGTCCAGGGTACAGATGCAAGTCTTGATGAGGAACTT
GATCGAGTCAAGATGAGTTAG
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>STOML2|30968|protein
MLARAARGTGALLLRGSLLASGRAPRRASSGLPRNTVVLFVPQQEAWVVERMGRFHRILEPGLNILIPVLDRIRYVQSLKEIVINVPEQSAVTLDNVTLQIDGVL
YLRIMDPYKASYGVEDPEYAVTQLAQTTMRSELGKLSLDKVFRERESLNASIVDAINQAADCWGIRCLRYEIKDIHVPPRVKESMQMQVEAERRKRATVLESEGT
RESAINVAEGKKQAQILASEAEKAEQINQAAGEASAVLAKAKAKAEAIRILAAALTQHNGDAAASLTVAEQYVSAFSKLAKDSNTILLPSNPGDVTSMVAQAMGV
YGALTKAPVPGTPDSLSSGSSRDVQGTDASLDEELDRVKMS

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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) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
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
Linkage Studies Top