AutismKB 2.0

Evidence Details for KPNA1


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Basic Information Top
Gene Symbol:KPNA1 ( IPOA5,NPI-1,RCH2,SRP1 )
Gene Full Name: karyopherin alpha 1 (importin alpha 5)
Band: 3q21.1
Quick LinksEntrez ID:3836; OMIM: 600686; Uniprot ID:IMA1_HUMAN; ENSEMBL ID: ENSG00000114030; HGNC ID: 6394
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KPNA1|3836|nucleotide
ATGACCACCCCAGGAAAAGAGAACTTTCGCCTGAAAAGTTACAAGAACAAATCTCTGAATCCCGATGAGATGCGCAGGAGGAGGGAGGAAGAAGGACTGCAGTTA
CGAAAGCAGAAAAGAGAAGAGCAGTTATTCAAGCGGAGAAATGTTGCTACAGCAGAAGAAGAAACAGAAGAAGAAGTTATGTCAGATGGAGGCTTTCATGAGGCT
CAGATTAGTAACATGGAGATGGCACCAGGTGGTGTCATCACTTCTGACATGATTGAAATGATATTTTCCAAAAGCCCAGAGCAACAGCTTTCAGCAACACAGAAA
TTCAGGAAGCTGCTTTCAAAAGAACCTAACCCTCCTATTGATGAAGTTATCAGCACACCAGGAGTAGTGGCCAGGTTTGTGGAGTTCCTCAAACGAAAAGAGAAT
TGTACACTGCAGTTTGAATCAGCTTGGGTACTGACAAATATTGCTTCAGGAAATTCTCTTCAGACCCGAATTGTGATTCAGGCAGGAGCTGTGCCCATCTTCATA
GAGTTGCTCAGCTCAGAGTTTGAAGATGTCCAGGAACAGGCAGTCTGGGCTCTTGGCAACATTGCTGGAGATAGTACCATGTGCAGGGACTATGTCTTAGACTGC
AATATCCTTCCCCCTCTTTTGCAGTTATTTTCAAAGCAAAACCGCCTGACCATGACCCGGAATGCAGTATGGGCTTTGTCTAATCTCTGTAGAGGGAAAAGTCCA
CCTCCAGAATTTGCAAAGGTTTCTCCATGTCTGAATGTGCTTTCCTGGTTGCTGTTTGTCAGTGACACTGATGTACTGGCTGATGCCTGCTGGGCCCTCTCATAT
CTATCAGATGGACCCAATGATAAAATTCAAGCGGTCATCGATGCGGGAGTATGTAGGAGACTTGTGGAACTGCTGATGCATAATGATTATAAAGTGGTTTCTCCT
GCTTTGCGAGCTGTGGGAAACATTGTCACAGGGGATGATATTCAGACACAGGTAATTCTGAATTGCTCAGCTCTGCAGAGTTTATTGCATTTGCTGAGTAGCCCA
AAGGAATCTATCAAAAAGGAAGCATGTTGGACGATATCTAATATTACAGCTGGAAATAGGGCACAGATCCAGACTGTGATAGATGCCAACATTTTCCCAGCCCTC
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>KPNA1|3836|protein
MTTPGKENFRLKSYKNKSLNPDEMRRRREEEGLQLRKQKREEQLFKRRNVATAEEETEEEVMSDGGFHEAQISNMEMAPGGVITSDMIEMIFSKSPEQQLSATQK
FRKLLSKEPNPPIDEVISTPGVVARFVEFLKRKENCTLQFESAWVLTNIASGNSLQTRIVIQAGAVPIFIELLSSEFEDVQEQAVWALGNIAGDSTMCRDYVLDC
NILPPLLQLFSKQNRLTMTRNAVWALSNLCRGKSPPPEFAKVSPCLNVLSWLLFVSDTDVLADACWALSYLSDGPNDKIQAVIDAGVCRRLVELLMHNDYKVVSP
ALRAVGNIVTGDDIQTQVILNCSALQSLLHLLSSPKESIKKEACWTISNITAGNRAQIQTVIDANIFPALISILQTAEFRTRKEAAWAITNATSGGSAEQIKYLV
ELGCIKPLCDLLTVMDSKIVQVALNGLENILRLGEQEAKRNGTGINPYCALIEEAYGLDKIEFLQSHENQEIYQKAFDLIEHYFGTEDEDSSIAPQVDLNQQQYI
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top