AutismKB 2.0

Evidence Details for RHOXF1


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Basic Information Top
Gene Symbol:RHOXF1 ( MGC119030,MGC119033,OTEX,PEPP1 )
Gene Full Name: Rhox homeobox family, member 1
Band: Xq24
Quick LinksEntrez ID:158800; OMIM: 300446; Uniprot ID:RHXF1_HUMAN; ENSEMBL ID: ENSG00000101883; HGNC ID: 29993
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RHOXF1|158800|nucleotide
ATGGCGCGTTCGCTCGTCCACGACACCGTGTTCTACTGCCTGAGTGTATACCAGGTAAAAATAAGCCCCACACCTCAGCTGGGGGCAGCATCAAGCGCAGAAGGC
CATGTTGGCCAAGGAGCTCCAGGCCTCATGGGTAATATGAACCCTGAGGGCGGTGTGAACCACGAGAACGGCATGAACCGCGATGGCGGCATGATCCCCGAGGGC
GGCGGTGGAAACCAGGAGCCTCGGCAGCAGCCGCAGCCCCCGCCGGAGGAGCCGGCCCAGGCGGCCATGGAGGGTCCGCAGCCCGAGAACATGCAGCCACGAACT
CGGCGCACGAAGTTCACGCTGTTGCAGGTGGAGGAGCTGGAAAGTGTTTTCCGACACACTCAATACCCTGATGTGCCCACAAGAAGGGAACTTGCCGAAAACTTA
GGTGTGACTGAAGACAAAGTGCGGGTTTGGTTTAAGAATAAAAGGGCCAGATGTAGGCGACATCAGAGAGAATTAATGCTCGCCAATGAACTACGTGCTGACCCA
GACGACTGTGTCTACATCGTCGTGGACTAG





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>RHOXF1|158800|protein
MARSLVHDTVFYCLSVYQVKISPTPQLGAASSAEGHVGQGAPGLMGNMNPEGGVNHENGMNRDGGMIPEGGGGNQEPRQQPQPPPEEPAQAAMEGPQPENMQPRT
RRTKFTLLQVEELESVFRHTQYPDVPTRRELAENLGVTEDKVRVWFKNKRARCRRHQRELMLANELRADPDDCVYIVVD



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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 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 8 (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
Wang, 2009_1 Discovery Illumina HumanHap550 BeadChip 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery Illumina HumanHap550 BeadChip 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
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
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