AutismKB 2.0

Evidence Details for KATNAL2


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Basic Information Top
Gene Symbol:KATNAL2 ( DKFZp667C165,MGC33211 )
Gene Full Name: katanin p60 subunit A-like 2
Band: 18q21.1
Quick LinksEntrez ID:83473; OMIM: NA; Uniprot ID:KATL2_HUMAN; ENSEMBL ID: ENSG00000167216; HGNC ID: 25387
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KATNAL2|83473|nucleotide
ATGGAATATGAGAGTTATTATTTTGTAAAATTTCAGAAATACCCCAAAATTGTCAAAAAGTCATCAGACACAGCAGAAAATAATTTACCGCAAAGAAGTAGAGGG
AAGACCAGAAGGATGATGAACGACAGTTGTCAAAATCTTCCCAAGATCAATCAGCAGAGGCCCCGGTCCAAAACCACAGCGGGGAAGACAGGGGACACCAAATCG
CTCAATAAGGAGCATCCTAATCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAA
AATGCCCACCCACGAAGAGGCCAAATCATTGACTTCCAAGGGCTGCTCACAGATGCCATCAAGGGAGCAACCAGTGAACTTGCCTTGAACACCTTCGACCATAAT
CCAGACCCCTCAGAACGACTGCTGAAACCTCTGAGTGCATTTATTGGCATGAACAGTGAGATGCGAGAATTGGCAGCCGTGGTGAGCCGGGACATTTATCTCCAT
AATCCAAACATAAAGTGGAATGACATTATTGGACTTGATGCAGCCAAGCAGTTAGTCAAAGAAGCTGTTGTGTATCCTATAAGGTATCCACAGCTATTTACAGGA
ATTCTTTCTCCCTGGAAAGGACTACTGCTGTACGGCCCTCCAGGTACAGGAAAGACTTTACTGGCCAAAGCTGTGGCCACTGAATGTAAAACAACCTTCTTTAAC
ATTTCTGCATCCACCATTGTCAGCAAATGGAGAGGGGATTCAGAAAAACTCGTTCGGGTGTTATTTGAGCTTGCCCGCTACCACGCCCCATCCACGATCTTCCTG
GACGAGCTGGAGTCGGTGATGAGTCAGAGAGGCACAGCTTCTGGGGGAGAACATGAAGGAAGCCTGCGGATGAAGACAGAGTTACTGGTGCAGATGGATGGGCTG
GCACGCTCAGAAGATCTCGTATTTGTCTTAGCAGCTTCTAACCTGCCGTGGGAGCTGGACTGTGCCATGTTACGCCGCCTGGAGAAGAGGATTCTGGTCGATCTC
CCCAGCCGGGAGGCCAGGCAGGCCATGATCTACCACTGGCTGCCTCCTGTGAGCAAGAGCAGGGCCTTGGAGCTGCACACAGAGCTGGAGTACAGTGTGCTGAGC
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>KATNAL2|83473|protein
MEYESYYFVKFQKYPKIVKKSSDTAENNLPQRSRGKTRRMMNDSCQNLPKINQQRPRSKTTAGKTGDTKSLNKEHPNQEVVDNTRLESANFGLHISRIRKDSGEE
NAHPRRGQIIDFQGLLTDAIKGATSELALNTFDHNPDPSERLLKPLSAFIGMNSEMRELAAVVSRDIYLHNPNIKWNDIIGLDAAKQLVKEAVVYPIRYPQLFTG
ILSPWKGLLLYGPPGTGKTLLAKAVATECKTTFFNISASTIVSKWRGDSEKLVRVLFELARYHAPSTIFLDELESVMSQRGTASGGEHEGSLRMKTELLVQMDGL
ARSEDLVFVLAASNLPWELDCAMLRRLEKRILVDLPSREARQAMIYHWLPPVSKSRALELHTELEYSVLSQETEGYSGSDIKLVCREAAMRPVRKIFDALENHQS
ESSDLPRIQLDIVTTADFLDVLTHTKPSAKNLAQRYSDWQREFESV
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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 (1) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 1 (2) 0 (0) 12 (7)
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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top