AutismKB 2.0

Evidence Details for ERN2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ERN2 ( IRE1b )
Gene Full Name: endoplasmic reticulum to nucleus signaling 2
Band: 16p12.2
Quick LinksEntrez ID:10595; OMIM: 604034; Uniprot ID:ERN2_HUMAN; ENSEMBL ID: ENSG00000134398; HGNC ID: 16942
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ERN2|10595|nucleotide
ATGAGAAGGGCGGGGATCGGCGAGGACTCCAGGCTGGGGTTGCAGGCCCAGCCAGGGGCGGAGCCTTCTCCGGGTCGGGCGGGGACAGAGCGCTCCCTTGGAGGC
ACCCAGGGACCTGGCCAGCCGTGCAGCTGCCCAGGCGCTATGGCGAGTGCGGTCAGGGGGTCGAGGCCGTGGCCCCGGCTGGGGCTCCAGCTCCAGTTCGCGGCG
CTGCTGCTCGGGACGCTGAGTCCACAGGTTCATACTCTCAGGCCAGAGAACCTCCTGCTGGTGTCCACCTTGGATGGAAGTCTCCACGCACTAAGCAAGCAGACA
GGGGACCTGAAGTGGACTCTGAGGGATGATCCCGTCATCGAAGGACCAATGTACGTCACAGAAATGGCCTTTCTCTCTGACCCAGCAGATGGCAGCCTGTACATC
TTGGGGACCCAAAAACAACAGGGATTAATGAAACTGCCATTCACCATCCCTGAGCTGGTTCATGCCTCTCCCTGCCGCAGCTCTGATGGGGTCTTCTACACAGGC
CGGAAGCAGGATGCCTGGTTTGTGGTGGACCCTGAGTCAGGGGAGACCCAGATGACACTGACCACAGAGGGTCCCTCCACCCCCCGCCTCTACATTGGCCGAACA
CAGTATACGGTCACCATGCATGACCCAAGAGCCCCAGCCCTGCGCTGGAACACCACCTACCGCCGCTACTCAGCGCCCCCCATGGATGGCTCACCTGGGAAATAC
ATGAGCCACCTGGCGTCCTGCGGGATGGGCCTGCTGCTCACTGTGGACCCAGGAAGCGGGACGGTGCTGTGGACACAGGACCTGGGCGTGCCTGTGATGGGCGTC
TACACCTGGCACCAGGACGGCCTGCGCCAGCTGCCGCATCTCACGCTGGCTCGAGACACTCTGCATTTCCTCGCCCTCCGCTGGGGCCACATCCGACTGCCTGCC
TCAGGCCCCCGGGACACAGCCACCCTCTTCTCTACCTTGGACACCCAGCTGCTAATGACGCTGTATGTGGGGAAGGATGAAACTGGCTTCTATGTCTCTAAAGCA
CTGGTCCACACAGGAGTGGCCCTGGTGCCTCGTGGACTGACCCTGGCCCCCGCAGATGGCCCCACCACAGATGAGGTGACACTCCAAGTCTCAGGAGAGCGAGAG
Show »

>ERN2|10595|protein
MRRAGIGEDSRLGLQAQPGAEPSPGRAGTERSLGGTQGPGQPCSCPGAMASAVRGSRPWPRLGLQLQFAALLLGTLSPQVHTLRPENLLLVSTLDGSLHALSKQT
GDLKWTLRDDPVIEGPMYVTEMAFLSDPADGSLYILGTQKQQGLMKLPFTIPELVHASPCRSSDGVFYTGRKQDAWFVVDPESGETQMTLTTEGPSTPRLYIGRT
QYTVTMHDPRAPALRWNTTYRRYSAPPMDGSPGKYMSHLASCGMGLLLTVDPGSGTVLWTQDLGVPVMGVYTWHQDGLRQLPHLTLARDTLHFLALRWGHIRLPA
SGPRDTATLFSTLDTQLLMTLYVGKDETGFYVSKALVHTGVALVPRGLTLAPADGPTTDEVTLQVSGEREGSPSTAVRYPSGSVALPSQWLLIGHHELPPVLHTT
MLRVHPTLGSGTAETRPPENTQAPAFFLELLSLSREKLWDSELHPEEKTPDSYLGLGPQDLLAASLTAVLLGGWILFVMRQQQPQVVEKQQETPLAPADFAHISQ
Show »

Evidence summary Top

Click 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 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018