AutismKB 2.0

Evidence Details for ACCN2


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Basic Information Top
Gene Symbol:ACCN2 ( ASIC,ASIC1,ASIC1A,BNaC2,hBNaC2 )
Gene Full Name: amiloride-sensitive cation channel 2, neuronal
Band: 12q12
Quick LinksEntrez ID:41; OMIM: 602866; Uniprot ID:ACCN2_HUMAN; ENSEMBL ID: ENSG00000110881; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACCN2|41|nucleotide
ATGGAACTGAAGGCCGAGGAGGAGGAGGTGGGTGGCGTCCAGCCGGTGAGCATCCAGGCCTTCGCCAGCAGCTCCACACTGCACGGCCTGGCCCACATCTTCTCC
TACGAGCGGCTGTCTCTGAAGCGGGCACTGTGGGCCCTGTGCTTCCTGGGCTCGCTGGCTGTGCTGCTGTGTGTGTGCACGGAGCGTGTGCAGTACTACTTCCAC
TACCACCATGTCACCAAGCTCGACGAGGTGGCTGCCTCTCAGCTTACCTTCCCTGCTGTCACGCTGTGCAACCTCAACGAGTTCCGCTTTAGCCAAGTCTCCAAG
AATGACCTGTATCATGCTGGGGAGCTGCTGGCCCTGCTCAACAACAGGTATGAGATACCAGACACACAGATGGCAGATGAAAAGCAGCTGGAGATACTGCAGGAC
AAAGCCAACTTCCGCAGCTTCAAACCCAAACCCTTCAACATGCGTGAGTTCTACGACCGAGCTGGGCACGACATTCGAGACATGCTGCTCTCCTGCCACTTCCGG
GGGGAGGTCTGCAGCGCTGAAGACTTCAAGGTGGTCTTCACACGCTATGGAAAGTGCTACACGTTCAACTCGGGCCGAGATGGGCGGCCGCGGCTGAAGACCATG
AAGGGTGGGACGGGCAATGGGCTGGAAATCATGCTGGACATCCAGCAGGACGAGTACCTGCCTGTGTGGGGGGAGACTGACGAGACGTCCTTCGAAGCAGGCATC
AAAGTGCAGATCCATAGTCAGGATGAACCTCCTTTCATCGACCAGCTGGGCTTTGGCGTGGCCCCAGGCTTCCAGACCTTTGTGGCCTGCCAGGAGCAGCGGCTC
ATCTACCTGCCCCCACCCTGGGGCACCTGCAAAGCTGTTACCATGGACTCGGATTTGGATTTCTTCGACTCCTACAGCATCACTGCCTGCCGCATCGACTGTGAG
ACGCGCTACCTGGTGGAGAACTGCAACTGCCGCATGGTGCACATGCCAGGGGATGCCCCATACTGTACTCCAGAGCAGTACAAGGAGTGTGCAGATCCTGCTCTG
GACTTCCTGGTGGAGAAGGACCAGGAGTACTGCGTGTGTGAAATGCCTTGCAACCTGACCCGCTATGGCAAAGAGCTGTCCATGGTCAAGATCCCCAGCAAAGCC
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>ACCN2|41|protein
MELKAEEEEVGGVQPVSIQAFASSSTLHGLAHIFSYERLSLKRALWALCFLGSLAVLLCVCTERVQYYFHYHHVTKLDEVAASQLTFPAVTLCNLNEFRFSQVSK
NDLYHAGELLALLNNRYEIPDTQMADEKQLEILQDKANFRSFKPKPFNMREFYDRAGHDIRDMLLSCHFRGEVCSAEDFKVVFTRYGKCYTFNSGRDGRPRLKTM
KGGTGNGLEIMLDIQQDEYLPVWGETDETSFEAGIKVQIHSQDEPPFIDQLGFGVAPGFQTFVACQEQRLIYLPPPWGTCKAVTMDSDLDFFDSYSITACRIDCE
TRYLVENCNCRMVHMPGDAPYCTPEQYKECADPALDFLVEKDQEYCVCEMPCNLTRYGKELSMVKIPSKASAKYLAKKFNKSEQYIGENILVLDIFFEVLNYETI
EQKKAYEIAGLLGDIGGQMGLFIGASILTVLELFDYAYEVIKHKLCRRGKCQKEAKRSSADKGVALSLDDVKRHNPCESLRGHPAGMTYAANILPHHPARGTFED
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top