Evidence Details for EZR
Basic Information Top
| Gene Symbol: | EZR ( CVIL,CVL,DKFZp762H157,FLJ26216,MGC1584,VIL2 ) |
|---|---|
| Gene Full Name: | ezrin |
| Band: | 6q25.3 |
| Quick Links | Entrez 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
Show »
ATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCCAGCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAG
ACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGTGTCTGCCCAGGAGGTC
AGGAAGGAGAATCCCCTCCAGTTCAAGTTCCGGGCCAAGTTCTACCCTGAAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAA
GTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGCCGTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAA
GTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGG
CATGCGGAACACCGTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAAC
AAGAAAGGAACAGACCTTTGGCTTGGAGTTGATGCCCTTGGACTGAATATTTATGAGAAAGATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAGTGAAATC
AGGAACATCTCTTTCAATGACAAAAAGTTTGTCATTAAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATC
CTGCAGCTCTGCATGGGCAACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAG
AAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGAAAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGG
CTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAG
Show »
>EZR|7430|protein
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQ
VKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKN
KKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQ
KQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAKEELERQAVDQIKSQEQLAAE
LAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNE
Show »
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQ
VKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKN
KKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQ
KQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAKEELERQAVDQIKSQEQLAAE
LAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNE
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) |  | | autism | autism | 12 (25.00%) |
1.714 | Up | 0.0353 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.839 | Up | 0.0293 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.