AutismKB 2.0

Evidence Details for KHDRBS2


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Basic Information Top
Gene Symbol:KHDRBS2 ( FLJ38664,MGC26664,SLM-1,SLM1,bA535F17.1 )
Gene Full Name: KH domain containing, RNA binding, signal transduction associated 2
Band: 6q11.1
Quick LinksEntrez ID:202559; OMIM: 610487; Uniprot ID:KHDR2_HUMAN; ENSEMBL ID: ENSG00000112232; HGNC ID: 18114
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KHDRBS2|202559|nucleotide
ATGGAAGAGGAGAAATATTTGCCTGAGCTGATGGCAGAGAAAGATAGCCTGGATCCATCTTTTGTGCATGCGTCGCGCCTTTTGGCAGAAGAAATTGAAAAGTTT
CAAGGTTCTGATGGAAAAAAGGAAGACGAAGAAAAGAAGTATCTTGATGTCATCAGCAACAAAAACATAAAGCTCTCAGAAAGAGTACTGATTCCTGTCAAGCAG
TATCCAAAGTTCAATTTTGTGGGGAAATTGCTTGGACCAAGAGGAAACTCCTTGAAGAGGCTACAGGAAGAAACAGGTGCTAAAATGTCTATCCTGGGCAAAGGA
TCAATGAGAGATAAAGCTAAGGAAGAAGAACTAAGGAAGAGTGGGGAAGCCAAATATGCCCACTTGAGTGATGAGCTTCATGTATTAATTGAAGTGTTTGCTCCA
CCTGGGGAAGCTTATTCACGTATGAGTCATGCATTGGAAGAGATTAAAAAATTCCTGGTTCCTGACTACAATGATGAAATTCGTCAGGAACAACTACGTGAATTA
TCTTACTTAAATGGCTCAGAGGACTCTGGTCGTGGCAGAGGTATTAGAGGCAGAGGGATCAGAATAGCTCCCACAGCTCCTTCAAGGGGCCGTGGGGGTGCCATT
CCTCCTCCCCCACCACCTGGACGAGGTGTTCTCACCCCTCGGGGAAGCACTGTAACCCGTGGAGCGCTTCCAGTGCCACCTGTAGCAAGAGGTGTCCCTACCCCT
CGAGCCCGGGGGGCACCAACAGTGCCAGGATACAGGGCACCTCCTCCTCCAGCCCATGAAGCTTATGAAGAATATGGTTATGATGATGGCTACGGGGGTGAATAT
GATGACCAGACCTATGAGACTTATGATAACAGCTATGCGACCCAAACACAAAGTGTGCCTGAATACTATGACTACGGTCATGGAGTAAGTGAGGATGCCTATGAC
AGCTACGCACCAGAAGAATGGGCCACAACCCGCTCTAGCTTGAAGGCACCACCGCAAAGGTCAGCCAGAGGGGGATACAGGGAACACCCCTATGGTAGATATTGA

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>KHDRBS2|202559|protein
MEEEKYLPELMAEKDSLDPSFVHASRLLAEEIEKFQGSDGKKEDEEKKYLDVISNKNIKLSERVLIPVKQYPKFNFVGKLLGPRGNSLKRLQEETGAKMSILGKG
SMRDKAKEEELRKSGEAKYAHLSDELHVLIEVFAPPGEAYSRMSHALEEIKKFLVPDYNDEIRQEQLRELSYLNGSEDSGRGRGIRGRGIRIAPTAPSRGRGGAI
PPPPPPGRGVLTPRGSTVTRGALPVPPVARGVPTPRARGAPTVPGYRAPPPPAHEAYEEYGYDDGYGGEYDDQTYETYDNSYATQTQSVPEYYDYGHGVSEDAYD
SYAPEEWATTRSSLKAPPQRSARGGYREHPYGRY

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top