AutismKB 2.0

Evidence Details for SHROOM4


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Basic Information Top
Gene Symbol:SHROOM4 ( KIAA1202,SHAP )
Gene Full Name: shroom family member 4
Band: Xp11.22
Quick LinksEntrez ID:57477; OMIM: 300579; Uniprot ID:SHRM4_HUMAN; ENSEMBL ID: ENSG00000158352; HGNC ID: 29215
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SHROOM4|57477|nucleotide
ATGGAGAACCGGCCTGGGTCCTTCCAGTACGTCCCTGTGCAGCTGCAAGGGGGGGCACCCTGGGGCTTCACCCTTAAGGGGGGTCTGGAACACTGTGAGCCGCTC
ACAGTGTCTAAGATTGAAGATGGAGGCAAGGCAGCTTTGTCCCAGAAGATGAGGACTGGTGATGAGCTGGTGAATATCAATGGCACTCCATTATATGGCTCCCGC
CAAGAGGCCCTCATTCTCATCAAAGGCTCCTTCCGGATTCTCAAGCTGATTGTCAGGAGGAGGAACGCCCCTGTCAGTAGGCCGCACTCATGGCATGTGGCCAAG
CTGCTGGAGGGATGCCCTGAAGCAGCCACCACCATGCATTTCCCTTCTGAAGCCTTCAGCTTGTCCTGGCATTCTGGCTGCAACACAAGTGACGTGTGTGTGCAG
TGGTGTCCACTCTCCCGGCATTGCAGCACCGAGAAAAGCAGCTCCATTGGCAGCATGGAGAGCCTGGAGCAACCAGGCCAAGCCACCTATGAGAGCCATCTGTTG
CCTATTGACCAGAACATGTACCCTAACCAGCGTGACTCAGCCTACAGCTCCTTCTCGGCCAGCTCAAATGCTTCTGACTGTGCCCTTTCCCTCAGGCCAGAGGAG
CCAGCCTCTACAGACTGCATCATGCAAGGCCCAGGGCCAACTAAGGCCCCCAGTGGCCGGCCTAATGTGGCTGAGACCTCAGGAGGTAGTCGGCGCACCAATGGG
GGCCACCTGACCCCCAGCTCTCAGATGTCATCCCGTCCACAGGAGGGATACCAGTCAGGGCCCGCCAAAGCAGTCAGGGGCCCACCACAACCTCCAGTGAGGCGG
GACAGCCTTCAGGCCTCCAGAGCCCAACTCCTCAATGGAGAGCAGCGCAGGGCATCTGAGCCTGTGGTCCCCTTGCCACAGAAGGAGAAACTGAGCTTAGAGCCT
GTGCTACCCGCAAGGAACCCTAATAGGTTCTGTTGCCTCAGTGGGCATGACCAAGTGACAAGTGAGGGCCATCAGAACTGTGAGTTCAGTCAGCCTCCTGAATCC
AGCCAACAGGGCTCTGAGCATCTACTGATGCAGGCCTCAACCAAAGCTGTTGGATCCCCAAAAGCCTGTGACAGAGCTTCCAGCGTGGATTCCAACCCACTCAAT
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>SHROOM4|57477|protein
MENRPGSFQYVPVQLQGGAPWGFTLKGGLEHCEPLTVSKIEDGGKAALSQKMRTGDELVNINGTPLYGSRQEALILIKGSFRILKLIVRRRNAPVSRPHSWHVAK
LLEGCPEAATTMHFPSEAFSLSWHSGCNTSDVCVQWCPLSRHCSTEKSSSIGSMESLEQPGQATYESHLLPIDQNMYPNQRDSAYSSFSASSNASDCALSLRPEE
PASTDCIMQGPGPTKAPSGRPNVAETSGGSRRTNGGHLTPSSQMSSRPQEGYQSGPAKAVRGPPQPPVRRDSLQASRAQLLNGEQRRASEPVVPLPQKEKLSLEP
VLPARNPNRFCCLSGHDQVTSEGHQNCEFSQPPESSQQGSEHLLMQASTKAVGSPKACDRASSVDSNPLNEASAELAKASFGRPPHLIGPTGHRHSAPEQLLASH
LQHVHLDTRGSKGMELPPVQDGHQWTLSPLHSSHKGKKSPCPPTGGTHDQSSKERKTRQVDDRSLVLGHQSQSSPPHGEADGHPSEKGFLDPNRTSRAASELANQ
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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 (0) 1 (5) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Redin C, 2017 28 - 34 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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