AutismKB 2.0

Evidence Details for KDELR2


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Basic Information Top
Gene Symbol:KDELR2 ( ELP-1,ERD2.2,FLJ45532 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Band: 7p22.1
Quick LinksEntrez ID:11014; OMIM: 609024; Uniprot ID:ERD22_HUMAN; ENSEMBL ID: ENSG00000136240; HGNC ID: 6305
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDELR2|11014|nucleotide
ATGAACATTTTCCGGCTGACTGGGGACCTGTCCCACCTGGCGGCCATCGTCATCCTGCTGCTGAAGATCTGGAAGACGCGCTCCTGCGCCGGTATTTCTGGGAAA
AGCCAGCTTCTGTTTGCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTCATTTATTTCATTGTATAACACATCTATGAAGGTTATCTACCTTGCCTGC
TCCTATGCCACAGTGTACCTGATCTACCTGAAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGTTTCTGGTGGTCCCTGTGGGAGGCCTC
TCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAGTACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAAGTGCCAAAGACCATCACCAGCATCTGTCCTTCAG
GGTGCTCGGACAGAATTCTTACCACAGCAAAGGCATAAGATGCTTGATACGGAAAATCAGAAACTTAACTCTTTTGTTGCAGATAGTCATCAGTGGCTCTGTAAA
AACGCAGAGGAAAAGAGCCAGAAGGTTTCTGTTTAA





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>KDELR2|11014|protein
MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGL
SFLVNHDFSPLEYSRERSSVCQHKCQRPSPASVLQGARTEFLPQQRHKMLDTENQKLNSFVADSHQWLCKNAEEKSQKVSV



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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Bremer, 2011 - aCGHASD - - - - 223 - 223
Goitia V, 2015 Hispanic array CGH --ASD - - - - 1 - 1
Linkage Studies Top