AutismKB 2.0

Evidence Details for MYPOP


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYPOP ( P42pop )
Gene Full Name: Myb-related transcription factor, partner of profilin
Band: 19q13.32
Quick LinksEntrez ID:339344; OMIM: NA; Uniprot ID:MYPOP_HUMAN; ENSEMBL ID: ENSG00000176182; HGNC ID: 20178
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYPOP|339344|nucleotide
ATGGCCTCGGCGGCGGCGGGCGAAGCGGAGGAAACCACCCGGTTGCGCAAGCCGCGCTTCTCATTCGAAGAGAACCAGATCCTGATCCGCGAGGTGCGCGCCCAC
TACCCGCAGCTCTACGGCGCGCAGAGCCGTCGGGTGAGCGTGGCAGAGCGGCGGCGCGTGTGGGACGGCATCGCCGCCAAGATCAACGGTATCACCAGCTGGAAG
CGCACGGGCCAGGAGGTGCAGAAGCGCTGGAACGACTTCAAGCGCCGCACCAAGGAGAAGCTCGCTCGCGTGCCGCACTCCACGCAGGGCGCCGGGCCCGCCGCG
GAGGACGCTTTCTCCGCGGAAGAGGAGACCATTTTTGCCATCCTGGGGCCAGGTGTGGCGGCGCCGGGGGCAGGTGCTGGGGCGGAGGAGCCCCCTGCGGCCCCC
TCTTCACAGCCGCCGCCCCCAAGCGCCTGCCCCCAGCGCTACGTGTTGTCGGAAGACCGCCGGGAGGACCGACGTGCAGATACATCAGCCCACAGCAAGGCGGGC
TCCAGCAGCCCGGAGCCATGGGCCCGGCCCTCCTGCACTCCCCAGGAAGGGGGCTGCCCACGGCCCAAGGAGCGTGAGTCACCACCCCCTTCGGCCCTGCAGCCG
GTCCAGCTGCCTCGCCTGGCCTTGTCTCCACCACCCCCAGCCCCTCCACTGCCACCCCCACCGCCACTGGCCCAAGTGGCACCCTCACCCCCTAGCCCCCCACCC
CCTCCTCGGCCTCCACCCACGCTCTCGGCCTCAGACCCCTCCCTGGACTTCCTGCGGGCCCAGCAGGAGACTGCCAACGCCATCCGGGAGCTGGCCGGCACCCTT
CGACAGGGACTGGCCAAACTGAGCGAGGCCCTCAGCGCTCTGCTGCCCCTTCTACCAGGAACCCCAGTTGACTCCCTGCCTCCACCTCTGCCCCCACCCCCACCC
CCACCGCCACCTCCCAGGCCTGTCCTGCCCCCACCGGCCCCCAAGGTGGAGATCACCCCAGAGCCCGTGTCCGTGGTGGCTGCTGTGGTGGACGGGGCAGTGGTG
GCAGCCAGGGGAGTGATCATTGCCCCAAGGAGCGAGGAGGGGGCACCCCGGCCCCCCCCAGCCCCGCTCCCTCCGCACGACTCCCCCCCACACAAGCGGAGAAAA
Show »

>MYPOP|339344|protein
MASAAAGEAEETTRLRKPRFSFEENQILIREVRAHYPQLYGAQSRRVSVAERRRVWDGIAAKINGITSWKRTGQEVQKRWNDFKRRTKEKLARVPHSTQGAGPAA
EDAFSAEEETIFAILGPGVAAPGAGAGAEEPPAAPSSQPPPPSACPQRYVLSEDRREDRRADTSAHSKAGSSSPEPWARPSCTPQEGGCPRPKERESPPPSALQP
VQLPRLALSPPPPAPPLPPPPPLAQVAPSPPSPPPPPRPPPTLSASDPSLDFLRAQQETANAIRELAGTLRQGLAKLSEALSALLPLLPGTPVDSLPPPLPPPPP
PPPPPRPVLPPPAPKVEITPEPVSVVAAVVDGAVVAARGVIIAPRSEEGAPRPPPAPLPPHDSPPHKRRKGFPTRKRRGRWKSP

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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Low Scale Association Studies (by Ethnic Group) Top
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