AutismKB 2.0

Evidence Details for MARCH2


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Basic Information Top
Gene Symbol:MARCH2 ( MARCH-II,RNF172 )
Gene Full Name: membrane-associated ring finger (C3HC4) 2
Band: 19p13.2
Quick LinksEntrez ID:51257; OMIM: 613332; Uniprot ID:MARH2_HUMAN; ENSEMBL ID: ENSG00000099785; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MARCH2|51257|nucleotide
ATGACGACGGGTGACTGCTGCCACCTCCCCGGCTCCCTGTGTGACTGCTCCGGCAGCCCTGCCTTCTCCAAGGTCGTGGAGGCTACGGGCCTCGGACCGCCCCAG
TATGTGGCACAGGTGACTTCAAGGGATGGCCGGCTCCTCTCCACCGTCATCCGTGCCTTGGACACACCGAGTGATGGTCCTTTCTGCCGGATCTGCCATGAGGGA
GCGAACGGGGAGTGCTTGCTGTCCCCGTGTGGCTGCACCGGCACGCTGGGTGCCGTGCATAAGAGCTGTCTGGAGAAGTGGCTTTCCTCATCTAACACCAGCTAC
TGCGAGCTGTGCCACACGGAGTTTGCAGTGGAGAAACGGCCTCGACCCCTCACAGAGTGGCTGAAGGACCCGGGGCCGCGGACGGAGAAGCGGACACTGTGCTGC
GACATGGTGTGTTTCCTGTTCATCACACCGCTGGCCGCCATCTCAGGCTGGTTGTGCCTGCGCGGGGCCCAGGACCACCTCCGGCTCCACAGCCAGCTGGAGGCC
GTGGGTCTCATTGCCCTCACCATCGCCCTCTTCACCATCTATGTCCTCTGGACGCTGGTCTCCTTCCGCTACCACTGCCAGCTGTACTCCGAGTGGAGAAAGACC
AACCAGAAAGTTCGCCTGAAGATCCGGGAGGCGGACAGCCCCGAGGGCCCCCAGCATTCTCCACTGGCAGCTGGACTCCTGAAGAAGGTGGCAGAGGAGACACCA
GTATGA



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>MARCH2|51257|protein
MTTGDCCHLPGSLCDCSGSPAFSKVVEATGLGPPQYVAQVTSRDGRLLSTVIRALDTPSDGPFCRICHEGANGECLLSPCGCTGTLGAVHKSCLEKWLSSSNTSY
CELCHTEFAVEKRPRPLTEWLKDPGPRTEKRTLCCDMVCFLFITPLAAISGWLCLRGAQDHLRLHSQLEAVGLIALTIALFTIYVLWTLVSFRYHCQLYSEWRKT
NQKVRLKIREADSPEGPQHSPLAAGLLKKVAEETPV


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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) 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
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