AutismKB 2.0

Evidence Details for SAMD9L


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Basic Information Top
Gene Symbol:SAMD9L ( C7orf6,DRIF2,FLJ39885,KIAA2005,UEF1 )
Gene Full Name: sterile alpha motif domain containing 9-like
Band: 7q21.2
Quick LinksEntrez ID:219285; OMIM: 611170; Uniprot ID:SAM9L_HUMAN; ENSEMBL ID: ENSG00000177409; HGNC ID: 1349
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SAMD9L|219285|nucleotide
ATGAGTAAACAAGTATCTCTACCTGAAATGATTAAAGACTGGACCAAAGAGCATGTGAAAAAATGGGTAAATGAAGACCTTAAGATTAATGAGCAATACGGGCAA
ATTCTGCTCAGTGAAGAAGTAACAGGATTAGTCCTGCAGGAATTAACTGAGAAGGACCTTGTAGAAATGGGGCTACCATGGGGTCCAGCACTTTTGATAAAACGT
TCATACAACAAATTGAATAGTAAGTCCCCTGAAAGTGACAATCATGATCCGGGACAATTAGATAATTCAAAACCGTCCAAAACAGAACACCAGAAAAATCCAAAA
CACACCAAAAAGGAAGAAGAAAATTCAATGTCATCTAATATTGATTATGATCCCAGAGAGATCAGAGATATCAAACAAGAAGAATCAATTCTTATGAAAGAAAAT
GTGTTAGATGAAGTAGCAAATGCTAAACACAAGAAAAAGGGTAAGCTAAAACCTGAACAATTGACTTGTATGCCATATCCTTTTGATCAGTTCCATGACAGCCAT
CGCTACATAGAACATTATACTCTACAACCTGAAACAGGAGCACTCAATCTCATTGATCCAATACATGAGTTCAAAGCTCTCACAAACACAGAAACAGCCACGGAA
GTGGACATTAAGATGAAATTCAGCAATGAAGTCTTCCGATTTGCATCAGCTTGTATGAATTCACGCACCAATGGCACCATCCATTTTGGAGTCAAGGACAAACCC
CATGGAGAAATTGTTGGTGTGAAAATCACCAGTAAGGCTGCCTTCATTGACCACTTCAATGTAATGATCAAAAAGTATTTTGAAGAAAGTGAGATCAATGAAGCC
AAGAAGTGTATTCGGGAGCCAAGGTTTGTGGAAGTCCTTCTGCAGAACAATACACCATCTGACAGATTTGTCATTGAAGTTGATACTATTCCAAAACACTCTATA
TGTAATGATAAGTATTTCTACATTCAGATGCAAATTTGTAAAGATAAAATATGGAAACAAAACCAAAATCTTTCACTGTTTGTAAGAGAAGGGGCTAGCTCTAGG
GATATCCTGGCCAATTCCAAGCAACGGGATGTAGATTTCAAGGCATTTTTACAAAATTTAAAGTCACTGGTAGCATCTAGAAAAGAGGCTGAAGAAGAGTATGGA
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>SAMD9L|219285|protein
MSKQVSLPEMIKDWTKEHVKKWVNEDLKINEQYGQILLSEEVTGLVLQELTEKDLVEMGLPWGPALLIKRSYNKLNSKSPESDNHDPGQLDNSKPSKTEHQKNPK
HTKKEEENSMSSNIDYDPREIRDIKQEESILMKENVLDEVANAKHKKKGKLKPEQLTCMPYPFDQFHDSHRYIEHYTLQPETGALNLIDPIHEFKALTNTETATE
VDIKMKFSNEVFRFASACMNSRTNGTIHFGVKDKPHGEIVGVKITSKAAFIDHFNVMIKKYFEESEINEAKKCIREPRFVEVLLQNNTPSDRFVIEVDTIPKHSI
CNDKYFYIQMQICKDKIWKQNQNLSLFVREGASSRDILANSKQRDVDFKAFLQNLKSLVASRKEAEEEYGMKAMKKESEGLKLVKLLIGNRDSLDNSYYDWYILV
TNKCHPNQIKHLDFLKEIKWFAVLEFDPESMINGVVKAYKESRVANLHFPNQYEDKTTNMWEKISTLNLYQQPSWIFCNGRSDLKSETYKPLEPHLWQRERASEV
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top