AutismKB 2.0

Evidence Details for HCLS1


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Basic Information Top
Gene Symbol:HCLS1 ( CTTNL,HS1 )
Gene Full Name: hematopoietic cell-specific Lyn substrate 1
Band: 3q13.33
Quick LinksEntrez ID:3059; OMIM: 601306; Uniprot ID:HCLS1_HUMAN; ENSEMBL ID: ENSG00000180353; HGNC ID: 4844
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HCLS1|3059|nucleotide
ATGTGGAAGTCTGTAGTGGGCCATGATGTGTCTGTTTCCGTGGAGACCCAGGGTGATGATTGGGACACAGATCCTGACTTTGTGAATGACATCTCTGAAAAGGAG
CAACGATGGGGAGCCAAGACCATCGAGGGGTCTGGACGCACAGAACACATCAACATCCACCAGCTGAGGAACAAAGTATCAGAGGAGCATGATGTTCTCAGGAAG
AAAGAGATGGAGTCAGGGCCCAAAGCATCCCATGGCTATGGAGGTCGGTTTGGAGTAGAAAGAGACCGAATGGACAAGAGTGCAGTGGGCCATGAGTATGTTGCC
GAGGTGGAGAAGCACTCTTCTCAGACGGATGCTGCCAAAGGCTTTGGGGGCAAGTACGGAGTTGAGAGGGACAGGGCAGACAAGTCAGCAGTCGGCTTTGATTAT
AAAGGAGAAGTGGAGAAGCACACATCTCAGAAAGATTACTCTCGTGGCTTTGGTGGCCGGTACGGGGTGGAGAAGGATAAATGGGACAAAGCAGCTCTGGGATAT
GACTACAAGGGAGAGACGGAGAAACACGAGTCCCAGAGAGATTATGCCAAGGGCTTTGGTGGCCAGTATGGAATCCAGAAGGACCGAGTGGATAAGAGCGCTGTC
GGCTTCAATGAAATGGAGGCCCCGACCACAGCTTATAAGAAGACGACGCCCATAGAAGCCGCTTCTAGTGGTACCCGTGGGCTGAAGGCGAAATTTGAGTCCATG
GCTGAGGAGAAGAGGAAGCGAGAGGAAGAGGAGAAGGCACAGCAGGTGGCCAGGAGGCAACAGGAGCGAAAGGCTGTGACAAAGAGGAGCCCTGAGGCTCCACAG
CCAGTGATAGCTATGGAAGAGCCAGCAGTACCGGCCCCACTGCCCAAGAAAATCTCCTCAGAGGCCTGGCCTCCAGTTGGGACTCCTCCATCATCAGAGTCTGAG
CCTGTGAGAACCAGCAGGGAACACCCAGTGCCCTTGCTGCCCATTAGGCAGACTCTCCCGGAGGACAATGAGGAGCCCCCAGCTCTGCCCCCTAGGACTCTGGAA
GGCCTCCAGGTGGAGGAAGAGCCAGTGTACGAAGCAGAGCCTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCTGAGAATGACTATGAGGACGTTGAGGAGATGGAC
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>HCLS1|3059|protein
MWKSVVGHDVSVSVETQGDDWDTDPDFVNDISEKEQRWGAKTIEGSGRTEHINIHQLRNKVSEEHDVLRKKEMESGPKASHGYGGRFGVERDRMDKSAVGHEYVA
EVEKHSSQTDAAKGFGGKYGVERDRADKSAVGFDYKGEVEKHTSQKDYSRGFGGRYGVEKDKWDKAALGYDYKGETEKHESQRDYAKGFGGQYGIQKDRVDKSAV
GFNEMEAPTTAYKKTTPIEAASSGTRGLKAKFESMAEEKRKREEEEKAQQVARRQQERKAVTKRSPEAPQPVIAMEEPAVPAPLPKKISSEAWPPVGTPPSSESE
PVRTSREHPVPLLPIRQTLPEDNEEPPALPPRTLEGLQVEEEPVYEAEPEPEPEPEPEPENDYEDVEEMDRHEQEDEPEGDYEEVLEPEDSSFSSALAGSSGCPA
GAGAGAVALGISAVALYDYQGEGSDELSFDPDDVITDIEMVDEGWWRGRCHGHFGLFPANYVKLLE
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Glessner, 2009 - SNP microarrayASD - - - - 2195 2519 4714
Linkage Studies Top