AutismKB 2.0

Evidence Details for CANX


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Basic Information Top
Gene Symbol:CANX ( CNX,FLJ26570,IP90,P90 )
Gene Full Name: calnexin
Band: 5q35.3
Quick LinksEntrez ID:821; OMIM: 114217; Uniprot ID:CALX_HUMAN; ENSEMBL ID: ENSG00000127022; HGNC ID: 1473
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CANX|821|nucleotide
ATGGAAGGGAAGTGGTTGCTGTGTATGTTACTGGTGCTTGGAACTGCTATTGTTGAGGCTCATGATGGACATGATGATGATGTGATTGATATTGAGGATGACCTT
GACGATGTCATTGAAGAGGTAGAAGACTCAAAACCAGATACCACTGCTCCTCCTTCATCTCCCAAGGTTACTTACAAAGCTCCAGTTCCAACAGGGGAAGTATAT
TTTGCTGATTCTTTTGACAGAGGAACTCTGTCAGGGTGGATTTTATCCAAAGCCAAGAAAGACGATACCGATGATGAAATTGCCAAATATGATGGAAAGTGGGAG
GTAGAGGAAATGAAGGAGTCAAAGCTTCCAGGTGATAAAGGACTTGTGTTGATGTCTCGGGCCAAGCATCATGCCATCTCTGCTAAACTGAACAAGCCCTTCCTG
TTTGACACCAAGCCTCTCATTGTTCAGTATGAGGTTAATTTCCAAAATGGAATAGAATGTGGTGGTGCCTATGTGAAACTGCTTTCTAAAACACCAGAACTCAAC
CTGGATCAGTTCCATGACAAGACCCCTTATACGATTATGTTTGGTCCAGATAAATGTGGAGAGGACTATAAACTGCACTTCATCTTCCGACACAAAAACCCCAAA
ACGGGTATCTATGAAGAAAAACATGCTAAGAGGCCAGATGCAGATCTGAAGACCTATTTTACTGATAAGAAAACACATCTTTACACACTAATCTTGAATCCAGAT
AATAGTTTTGAAATACTGGTTGACCAATCTGTGGTGAATAGTGGAAATCTGCTCAATGACATGACTCCTCCTGTAAATCCTTCACGTGAAATTGAGGACCCAGAA
GACCGGAAGCCCGAGGATTGGGATGAAAGACCAAAAATCCCAGATCCAGAAGCTGTCAAGCCAGATGACTGGGATGAAGATGCCCCTGCTAAGATTCCAGATGAA
GAGGCCACAAAACCCGAAGGCTGGTTAGATGATGAGCCTGAGTACGTACCTGATCCAGACGCAGAGAAACCTGAGGATTGGGATGAAGACATGGATGGAGAATGG
GAGGCTCCTCAGATTGCCAACCCTAGATGTGAGTCAGCTCCTGGATGTGGTGTCTGGCAGCGACCTGTGATTGACAACCCCAATTATAAAGGCAAATGGAAGCCT
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>CANX|821|protein
MEGKWLLCMLLVLGTAIVEAHDGHDDDVIDIEDDLDDVIEEVEDSKPDTTAPPSSPKVTYKAPVPTGEVYFADSFDRGTLSGWILSKAKKDDTDDEIAKYDGKWE
VEEMKESKLPGDKGLVLMSRAKHHAISAKLNKPFLFDTKPLIVQYEVNFQNGIECGGAYVKLLSKTPELNLDQFHDKTPYTIMFGPDKCGEDYKLHFIFRHKNPK
TGIYEEKHAKRPDADLKTYFTDKKTHLYTLILNPDNSFEILVDQSVVNSGNLLNDMTPPVNPSREIEDPEDRKPEDWDERPKIPDPEAVKPDDWDEDAPAKIPDE
EATKPEGWLDDEPEYVPDPDAEKPEDWDEDMDGEWEAPQIANPRCESAPGCGVWQRPVIDNPNYKGKWKPPMIDNPSYQGIWKPRKIPNPDFFEDLEPFRMTPFS
AIGLELWSMTSDIFFDNFIICADRRIVDDWANDGWGLKKAADGAAEPGVVGQMIEAAEERPWLWVVYILTVALPVFLVILFCCSGKKQTSGMEYKKTDAPQPDVK
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top