AutismKB 2.0

Evidence Details for ASCC2


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Basic Information Top
Gene Symbol:ASCC2 ( ASC1p100 )
Gene Full Name: activating signal cointegrator 1 complex subunit 2
Band: 22q12.2
Quick LinksEntrez ID:84164; OMIM: NA; Uniprot ID:ASCC2_HUMAN; ENSEMBL ID: ENSG00000100325; HGNC ID: 24103
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASCC2|84164|nucleotide
ATGCCAGCTCTGCCCCTGGACCAACTCCAGATCACCCACAAGGACCCGAAGACAGGAAAGCTGAGGACTTCACCAGCGCTGCACCCCGAGCAGAAGGCAGACCGG
TATTTTGTGTTATACAAACCGCCCCCTAAAGACAACATTCCCGCCCTAGTGGAGGAGTACCTGGAACGCGCCACCTTCGTAGCCAATGACCTCGACTGGCTCCTG
GCCTTGCCTCACGATAAATTCTGGTGCCAGGTGATCTTTGACGAGACTCTACAGAAGTGCCTGGACTCCTACCTGCGCTATGTCCCCCGCAAATTCGACGAGGGG
GTGGCCTCAGCCCCTGAGGTTGTTGACATGCAGAAGCGCCTCCATCGAAGTGTTTTTCTCACCTTCCTCCGCATGTCCACTCACAAGGAATCCAAAGATCACTTC
ATTTCCCCTTCTGCGTTTGGAGAAATCCTCTACAATAACTTCCTCTTTGACATTCCAAAGATCCTGGACCTCTGCGTGCTCTTTGGAAAAGGCAACTCACCACTG
CTCCAGAAGATGATAGGAAACATCTTTACACAGCAGCCAAGTTACTACAGTGACCTGGATGAAACCCTGCCTACCATCCTTCAGGTCTTCAGCAATATCCTCCAG
CACTGTGGTTTGCAAGGGGACGGGGCCAATACCACACCCCAGAAGCTTGAGGAGAGGGGCCGATTGACCCCCAGTGACATGCCTCTCCTGGAATTAAAGGACATT
GTTCTCTACCTTTGTGATACCTGCACCACACTTTGGGCCTTTCTGGATATCTTCCCTTTGGCTTGCCAGACCTTCCAGAAGCACGACTTTTGTTACAGACTAGCT
TCCTTCTACGAAGCAGCAATTCCCGAAATGGAGTCTGCAATTAAGAAGAGGAGGCTTGAAGATAGCAAGCTTCTTGGTGACCTGTGGCAGAGGCTCTCCCATTCC
AGGAAGAAGCTAATGGAGATTTTCCACATCATCCTGAACCAGATCTGCCTCCTTCCCATCCTAGAAAGCAGCTGTGACAACATTCAGGGCTTCATCGAAGAGTTC
CTTCAGATCTTCAGCTCCTTGCTGCAGGAGAAGAGGTTCCTCCGGGACTATGATGCACTCTTCCCCGTGGCCGAAGACATCAGCTTGCTGCAGCAGGCCTCATCA
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>ASCC2|84164|protein
MPALPLDQLQITHKDPKTGKLRTSPALHPEQKADRYFVLYKPPPKDNIPALVEEYLERATFVANDLDWLLALPHDKFWCQVIFDETLQKCLDSYLRYVPRKFDEG
VASAPEVVDMQKRLHRSVFLTFLRMSTHKESKDHFISPSAFGEILYNNFLFDIPKILDLCVLFGKGNSPLLQKMIGNIFTQQPSYYSDLDETLPTILQVFSNILQ
HCGLQGDGANTTPQKLEERGRLTPSDMPLLELKDIVLYLCDTCTTLWAFLDIFPLACQTFQKHDFCYRLASFYEAAIPEMESAIKKRRLEDSKLLGDLWQRLSHS
RKKLMEIFHIILNQICLLPILESSCDNIQGFIEEFLQIFSSLLQEKRFLRDYDALFPVAEDISLLQQASSVLDETRTAYILQAVESAWEGVDRRKATDAKDPSVI
EEPNGEPNGVTVTAEAVSQASSHPENSEEEECMGAAAAVGPAMCGVELDSLISQVKDLLPDLGEGFILACLEYYHYDPEQVINNILEERLAPTLSQLDRNLDREM
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top