AutismKB 2.0

Evidence Details for IQCH


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Basic Information Top
Gene Symbol:IQCH ( DKFZp434F2114,FLJ12476,NYDSP5 )
Gene Full Name: IQ motif containing H
Band: 15q23
Quick LinksEntrez ID:64799; OMIM: 612523; Uniprot ID:IQCH_HUMAN; ENSEMBL ID: ENSG00000103599; HGNC ID: 25721
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IQCH|64799|nucleotide
ATGGCACAGAACACTGAAAACCACGACCCTGTCGGATCCATCTTAATCCAGATCCATGAAGACCTTTATCAGTTAAAGGAGAAATTAACAAAATTCTCACCTGAG
GAAAAAGGAGAGACTCTAGACATTCAGAGTCTTGAAACAGCAATCAAAAGGACTGAAGTGGGGTTAAGAATTCACATTGAGAAGTATTTAAATGTTGTAAACCAG
AATGTATTAACGACTTCTGTTAATGATGAGAGCTTATATACTCCCCAGGCTTCCAAATGGTTACTTCCAACTGTAATTGATCAGAAATCATTTATTTTCCCTCAG
GAATCTGAGGGTACATTTTGGCAACCCCAAAGACAGCACAGTTCATCTCTGCCTGTCTTTCCAAGAGCAAAGATAAAGGTTTCGAAGTTAATCAAAGGGTCTAAC
ATATCCAGCCTCACGGTTCTGCCATCTTCTCATTGCACAGATCCCTATTTCACTCCTATACCAGTCTTACAAGCAGATGCCCACAAAGGGATTTTAAGTATGATA
GAACGAGGGCTGATTCCACCAACAGCAAGGATTACCTTTCAGAATCCACCCATTACACCCAGAGCAGCTCCTCTGCATAGTTTTGATGAAGCACGTAAGATTCCA
ACTGTAGCCACTTTCACTATACCTCGGGAACCACCTCCATCTCCAGCAGAAGTGAAGTTCTTTCCCAAGAAACAAAGATCAAAGGGGAAAAGCAGAAGGTCAAGA
GGACATCATGATAGGAAGGCCATGAAAGTCAAAACACCTTTGAGAGCCCTGAAATCACTGTGGGATTATGACTTTTTAATTTATGATGGTGTCATAGACAATACA
GCCCCAGACTTCTTAGCATTCAAGGAACATTTTAGCTTAGCTTGGGGAGGTATTTTTTCTCTCTTGGAACACGTCGAGAAGTTTCTCAGGAACTATGCTATACCA
GAAGTCAAAATAAAAGGGAATAATTTGGTGGCCCTCCTTCCAGAGTTTGAGCTGACGAATAAACTTACCAGATATGACCTTCTCTCAGTGTTAGAGGACCCAGCT
CATGTCCAAATGCTGATAAATCTTCCAGGGCAAAGGTACAAGGGCCAAGATGGAAATTCGGAGGCCGCCATGAAGATCCAAGCCACATGGAAATGCTACAAAGCA
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>IQCH|64799|protein
MAQNTENHDPVGSILIQIHEDLYQLKEKLTKFSPEEKGETLDIQSLETAIKRTEVGLRIHIEKYLNVVNQNVLTTSVNDESLYTPQASKWLLPTVIDQKSFIFPQ
ESEGTFWQPQRQHSSSLPVFPRAKIKVSKLIKGSNISSLTVLPSSHCTDPYFTPIPVLQADAHKGILSMIERGLIPPTARITFQNPPITPRAAPLHSFDEARKIP
TVATFTIPREPPPSPAEVKFFPKKQRSKGKSRRSRGHHDRKAMKVKTPLRALKSLWDYDFLIYDGVIDNTAPDFLAFKEHFSLAWGGIFSLLEHVEKFLRNYAIP
EVKIKGNNLVALLPEFELTNKLTRYDLLSVLEDPAHVQMLINLPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKWASGVIAIAWLLYCHKTRLKKILK
ESRQRHLENFRIRAKHLAANWNRIRTSRRTIIHIPSLGYSQPVREHIADFNTQQNMQLGRLCDILDANVNVIYICSHHMNDELVLYYKKILSLHAAVKSGNLEDR
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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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top