AutismKB 2.0

Evidence Details for EZR


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Basic Information Top
Gene Symbol:EZR ( CVIL,CVL,DKFZp762H157,FLJ26216,MGC1584,VIL2 )
Gene Full Name: ezrin
Band: 6q25.3
Quick LinksEntrez ID:7430; OMIM: 123900; Uniprot ID:EZRI_HUMAN; ENSEMBL ID: ENSG00000092820; HGNC ID: 12691
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EZR|7430|nucleotide
ATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCCAGCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAG
ACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGTGTCTGCCCAGGAGGTC
AGGAAGGAGAATCCCCTCCAGTTCAAGTTCCGGGCCAAGTTCTACCCTGAAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAA
GTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGCCGTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAA
GTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGG
CATGCGGAACACCGTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAAC
AAGAAAGGAACAGACCTTTGGCTTGGAGTTGATGCCCTTGGACTGAATATTTATGAGAAAGATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAGTGAAATC
AGGAACATCTCTTTCAATGACAAAAAGTTTGTCATTAAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATC
CTGCAGCTCTGCATGGGCAACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAG
AAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGAAAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGG
CTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAG
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>EZR|7430|protein
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQ
VKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKN
KKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQ
KQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAKEELERQAVDQIKSQEQLAAE
LAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNE
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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) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top