AutismKB 2.0

Evidence Details for EN2


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Basic Information Top
Gene Symbol:EN2 ( - )
Gene Full Name: engrailed homeobox 2
Band: 7q36.3
Quick LinksEntrez ID:2020; OMIM: 131310; Uniprot ID:HME2_HUMAN; ENSEMBL ID: ENSG00000164778; HGNC ID: 3343
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EN2|2020|nucleotide
ATGGAGGAGAATGACCCCAAGCCTGGCGAAGCAGCGGCGGCGGTGGAGGGACAGCGGCAGCCGGAATCCAGCCCCGGCGGCGGCTCGGGCGGCGGCGGCGGTAGC
AGCCCGGGCGAAGCGGACACCGGGCGCCGGCGGGCTCTGATGCTGCCCGCGGTCCTGCAGGCGCCCGGCAACCACCAGCACCCGCACCGCATCACCAACTTCTTC
ATCGACAACATCCTGCGGCCCGAGTTCGGCCGGCGAAAGGACGCGGGGACCTGCTGTGCGGGCGCGGGAGGAGGAAGGGGCGGCGGAGCCGGCGGCGAAGGCGGC
GCGAGCGGTGCGGAGGGAGGCGGCGGCGCGGGCGGCTCGGAGCAGCTCTTGGGCTCGGGCTCCCGAGAGCCCCGGCAGAACCCGCCATGTGCGCCCGGCGCGGGC
GGGCCGCTCCCAGCCGCCGGCAGCGACTCTCCGGGTGACGGGGAAGGCGGCTCCAAGACGCTCTCGCTGCACGGTGGCGCCAAGAAAGGCGGCGACCCCGGCGGC
CCCCTGGACGGGTCGCTCAAGGCCCGCGGCTTGGGCGGCGGCGACCTGTCGGTGAGCTCGGACTCGGACAGCTCGCAAGCCGGCGCCAACCTGGGCGCGCAGCCC
ATGCTCTGGCCGGCGTGGGTCTACTGTACGCGCTACTCGGACCGGCCTTCTTCAGGTCCCAGGTCTCGAAAACCAAAGAAGAAGAACCCGAACAAAGAGGACAAG
CGGCCGCGCACGGCCTTTACCGCCGAGCAGCTGCAGAGGCTCAAGGCCGAGTTCCAGACCAACAGGTACCTGACGGAGCAGCGGCGCCAGAGCCTGGCGCAGGAG
CTGAGCCTCAACGAGTCACAGATCAAGATTTGGTTCCAGAACAAGCGCGCCAAGATCAAGAAGGCCACGGGCAACAAGAACACGCTGGCCGTGCACCTCATGGCA
CAGGGCTTGTACAACCACTCCACCACAGCCAAGGAGGGCAAGTCGGACAGCGAGTAG

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>EN2|2020|protein
MEENDPKPGEAAAAVEGQRQPESSPGGGSGGGGGSSPGEADTGRRRALMLPAVLQAPGNHQHPHRITNFFIDNILRPEFGRRKDAGTCCAGAGGGRGGGAGGEGG
ASGAEGGGGAGGSEQLLGSGSREPRQNPPCAPGAGGPLPAAGSDSPGDGEGGSKTLSLHGGAKKGGDPGGPLDGSLKARGLGGGDLSVSSDSDSSQAGANLGAQP
MLWPAWVYCTRYSDRPSSGPRSRKPKKKNPNKEDKRPRTAFTAEQLQRLKAEFQTNRYLTEQRRQSLAQELSLNESQIKIWFQNKRAKIKKATGNKNTLAVHLMA
QGLYNHSTTAKEGKSDSE

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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 (1) 0 (0) 0 (0) 3 (12) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3) 36 (16)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top