AutismKB 2.0

Evidence Details for D4S234E


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Basic Information Top
Gene Symbol:D4S234E ( D4S234,NEEP21,NSG1,P21 )
Gene Full Name: -
Band: 4p16.3
Quick LinksEntrez ID:27065; OMIM: 607645; Uniprot ID:NSG1_HUMAN; ENSEMBL ID: ENSG00000168824; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>D4S234E|27065|nucleotide
ATGGTGAAGTTGGGGAACAATTTCGCAGAGAAGGGCACCAAGCAGCCGCTGCTGGAGGATGGCTTCGACACCATTCCCCTGATGACGCCCCTCGATGTCAATCAG
CTGCAGTTCCCGCCCCCGGATAAGGTGGTCGTGAAAACTAAGACCGAGTATGAACCTGACCGCAAGAAAGGGAAAGCACGTCCTCCCCAAATTGCTGAGTTCACC
GTCAGCATCACGGAGGGTGTCACCGAGAGGTTTAAGGTCTCCGTGTTGGTCCTCTTCGCCCTGGCCTTCCTCACCTGCGTCGTCTTCCTGGTTGTCTACAAGGTG
TACAAGTATGACCGCGCCTGCCCCGATGGGTTCGTCCTCAAGAACACCCAGTGCATCCCAGAAGGCTTGGAGAGCTACTACGCGGAGCAAGACTCCAGTGCCCGG
GAGAAATTTTACACAGTCATAAACCACTACAACCTGGCCAAGCAGAGCATCACGCGCTCCGTATCGCCCTGGATGTCAGTTCTGTCAGAAGAGAAGCTGTCCGAG
CAGGAGACTGAAGCGGCTGAGAAGTCAGCTTAG





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>D4S234E|27065|protein
MVKLGNNFAEKGTKQPLLEDGFDTIPLMTPLDVNQLQFPPPDKVVVKTKTEYEPDRKKGKARPPQIAEFTVSITEGVTERFKVSVLVLFALAFLTCVVFLVVYKV
YKYDRACPDGFVLKNTQCIPEGLESYYAEQDSSAREKFYTVINHYNLAKQSITRSVSPWMSVLSEEKLSEQETEAAEKSA



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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) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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