AutismKB 2.0

Evidence Details for ELMOD3


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Basic Information Top
Gene Symbol:ELMOD3 ( FLJ21977,FLJ35601,LST3,MGC111036,RBED1,RBM29 )
Gene Full Name: ELMO/CED-12 domain containing 3
Band: 2p11.2
Quick LinksEntrez ID:84173; OMIM: NA; Uniprot ID:ELMD3_HUMAN; ENSEMBL ID: ENSG00000115459; HGNC ID: 26158
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELMOD3|84173|nucleotide
ATGAATGAAAAATCTTGCTCTTTCCATAGTAAAGAAGAATTAAGAGATGGACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGT
GTTCTGGCTTTCAGAGGAATCCCTATCTCAGAGTTGAAGAACCATGGCATTCTCCAGGCTCTGACCACAGAAGCTTATGAATGGGAGCCACGTGTTGTGAGTACA
GAGGTGGTCAGAGCCCAAGAAGAATGGGAAGCTGTGGACACCATCCAGCCAGAGACAGGGAGCCAAGCTAGCTCAGAGCAGCCTGGGCAGCTAATCTCCTTCAGT
GAGGCCCTGCAGCACTTCCAGACTGTGGACCTTTCCCCCTTCAAGAAAAGAATCCAGCCAACTATTCGAAGGACTGGGCTCGCCGCCCTCCGACACTACCTCTTC
GGGCCTCCAAAGCTCCACCAGCGCCTTCGGGAAGAAAGGGACTTGGTCCTGACCATTGCTCAGTGTGGCCTGGATAGCCAAGACCCAGTGCATGGCCGAGTCCTC
CAGACCATCTATAAGAAGCTGACCGGCTCCAAGTTTGACTGTGCCCTTCATGGAAACCACTGGGAGGACCTGGGCTTTCAGGGAGCGAATCCAGCCACAGACCTG
AGAGGCGCAGGCTTCCTTGCCCTCCTGCATCTGCTCTACCTGGTGATGGACTCAAAGACCTTGCCGATGGCGCAGGAGATTTTCCGCCTGTCTCGTCACCACATC
CAGCAATTCCCTTTCTGTTTGATGTCCGTGAACATCACCCACATTGCCATCCAGGCCTTGAGAGAGGAGTGTCTCTCCAGAGAGTGTAATCGGCAGCAGAAGGTC
ATCCCCGTGGTGAACAGCTTCTATGCCGCCACATTCCTCCACCTCGCACATGTCTGGAGGACACAGCGGAAGACCATCTCAGACTCGGGCTTTGTCCTCAAAGAG
TTGGAAGTATTGGCCAAGAAGAGCCCACGGCGGCTGCTCAAGACCCTGGAGCTGTACTTGGCCAGGGTGTCAAAGGGACAGGCCTCCTTGTTGGGAGCACAGAAG
TGCTATGGGCCAGAAGCCCCTCCCTTCAAGGATCTCACCTTCACAGGTGAGAGTGACCTGCAGTCTCACTCATCCGAAGGCGTATGGCTGATCTGA
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>ELMOD3|84173|protein
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFS
EALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDL
RGAGFLALLHLLYLVMDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYAATFLHLAHVWRTQRKTISDSGFVLKE
LEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top