AutismKB 2.0

Evidence Details for BLM


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Basic Information Top
Gene Symbol:BLM ( BS,MGC126616,MGC131618,MGC131620,RECQ2,RECQL2,RECQL3 )
Gene Full Name: Bloom syndrome, RecQ helicase-like
Band: 15q26.1
Quick LinksEntrez ID:641; OMIM: 604610; Uniprot ID:BLM_HUMAN; ENSEMBL ID: ENSG00000197299; HGNC ID: 1058
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BLM|641|nucleotide
ATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCAGGTTTC
ACTTTTAAAAAGAAAACATCTTCAGATAACAATGTATCTGTAACTAATGTGTCAGTAGCAAAAACACCTGTATTAAGAAATAAAGATGTTAATGTTACCGAAGAC
TTTTCCTTCAGTGAACCTCTACCCAACACCACAAATCAGCAAAGGGTCAAGGACTTCTTTAAAAATGCTCCAGCAGGACAGGAAACACAGAGAGGTGGATCAAAA
TCATTATTGCCAGATTTCTTGCAGACTCCGAAGGAAGTTGTATGCACTACCCAAAACACACCAACTGTAAAGAAATCCCGGGATACTGCTCTCAAGAAATTAGAA
TTTAGTTCTTCACCAGATTCTTTAAGTACCATCAATGATTGGGATGATATGGATGACTTTGATACTTCTGAGACTTCAAAATCATTTGTTACACCACCCCAAAGT
CACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCA
CCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAA
GTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGATAATAGCGAAAAGAAGAAGAATTTGGAAGAAGCTGAATTA
CATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTATGATACGGATTTTGTTCCACCTTCTCCAGAAGAAATTATTTCTGCTTCTTCTTCCTCT
TCAAAATGCCTTAGTACGTTAAAGGACCTTGACACCTCTGACAGAAAAGAGGATGTTCTTAGCACATCAAAAGATCTTTTGTCAAAACCTGAGAAAATGAGTATG
CAGGAGCTGAATCCAGAAACCAGCACAGACTGTGACGCTAGACAGATAAGTTTACAGCAGCAGCTTATTCATGTGATGGAGCACATCTGTAAATTAATTGATACT
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>BLM|641|protein
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSK
SLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPP
PSSESEQIDLTEEQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSS
SKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVL
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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (4)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top