AutismKB 2.0

Evidence Details for IQCB1


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Basic Information Top
Gene Symbol:IQCB1 ( NPHP5,PIQ,SLSN5 )
Gene Full Name: IQ motif containing B1
Band: 3q13.33
Quick LinksEntrez ID:9657; OMIM: 609237; Uniprot ID:IQCB1_HUMAN; ENSEMBL ID: ENSG00000173226; HGNC ID: 28949
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IQCB1|9657|nucleotide
ATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAGAAATA
ATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAATATTGCCTCTTGGTCCTCAGTCAAGATTAT
TCTCGAATCCAGGGTGGTTGGACTACAATTTCCCAGCTTACACAGATATTAAGCCATTGCTGTGTGGGCTTGGAGCCAGGAGAAGATGCAGAGGAATTTTACAAT
GAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGACAATTACAAACATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTACTACAC
TTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGGGAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATTTCTTACATTTACTGCAAGCT
GACAATGTCCAAATAGGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAGTGGTGATTTACTCAGAATAGGAAGAAAAGCCCTGTATTCAATT
TTAGATGAAGTTATTTTCAAGCTTTTTTCAACTCCTAGTCCAGTTATAAGAAGTACTGCTACAAAACTCCTACTGTTGATGGCTGAATCCCATCAGGAAATTTTG
ATTTTACTGAGACAAAGTACCTGCTACAAAGGACTCAGACGTCTACTAAGTAAACAGGAAACTGGGACTGAATTCAGTCAAGAACTTAGACAGCTTGTTGGCCTT
TTAAGCCCAATGGTCTATCAGGAAGTAGAAGAGCAGAAACTACATCAAGCAGCATGCTTGATTCAAGCCTATTGGAAGGGTTTTCAGACAAGAAAGAGATTAAAG
AAGCTTCCATCTGCTGTGATTGCTTTGCAGAGGAGTTTCAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGGACCTCAAATTA
CAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAGGTCAGGTGGAGAAACACTATCGGGAA
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>IQCB1|9657|protein
MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYN
ELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSI
LDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLK
KLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAA
VTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAP
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top