AutismKB


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Evidence Detail for RBFOX1


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Basic Information Top
Gene Symbol:RBFOX1 ( A2BP1,FOX-1,FOX1,HRNBP1 )
Gene Full Name: RNA binding protein, fox-1 homolog (C. elegans) 1
Band: 16p13.3
Quick LinksEntrez ID:54715; OMIM: 605104; Uniprot ID:RFOX1_HUMAN; ENSEMBL ID: ENSG00000078328
Sequences Top
>RBFOX1|54715|nucleotide
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>RBFOX1|54715|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 2 (3) 2 (2) 1 (6) 2 (5) 0 (2) 2 (4) 32 (17)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Lucarelli, 2003_1 Italy 1 (detail) 137
(15.33%)
ASD -
(3-13)
- 119
(42.86%)
-
(3-13)
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Wang, 2009_1 Discovery 1 (detail) 780 1299
(-)
ASD -
-
-
-
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery 1 (detail) 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Barnby, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 48
  • Normal Controls: 190
  • Methods: -
  • Evidence Details: no missense variants were detected during mutation screening of the coding sequence, and 13 noncoding/silent variants were found.
Martin, 2007_1 human ---AD case report
  • Subjects: 1 female
  • Normal Controls: epilepsy, and global develop,ental delay
  • Methods: FISH, Quantitative real time PCR (Q-PCR) analysis
  • Evidence Details: FISH analysis identified a cryptic deletion of approximately 160 kb at the boundary of the first exon and first intron of the 1.7 Mb ataxin-2 binding protein-1 (A2BP1) gene, also called FOX1. Quantitative real time PCR (Q-PCR) analysis verified a deletion of exon 1 in the 5' promoter region of the A2BP1 gene.
Martin, 2007_2 human lymphocytes--AD RNA expression
  • Subjects: 1 female
  • Normal Controls: epilepsy, and global develop,ental delay
  • Methods: reverse transcription PCR (qRT-PCR)
  • Evidence Details: Reverse transcription PCR (qRT-PCR) showed reduced mRNA expression in the individual's lymphocytes, demonstrating the functional consequence of the deletion.
Martin, 2007_3 human ---AD genetics: mutation screen
  • Subjects: 88
  • Normal Controls: -
  • Methods: re-sequencing, quantitative PCR (Q-PCR)
  • Evidence Details: No additional deletions or clear mutations were identified in 88 probands by re-sequencing of all exons and surrounding intronic regions or quantitative PCR (Q-PCR) of exon 1.
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.74821 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1731507
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.739897 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1814316
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.731078 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2359168
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.694897 Down 0.0333647
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1731507
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.695145 Down 0.0158402
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1814316
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.714607 Down 0.0386687
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2359168
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000011 16 16p13.3 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0000343 16 16p13 loss 3 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0002103 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002104 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002105 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002106 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000113 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0002892 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002893 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002894 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002895 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002896 16 16p13.2 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0003385 16 16p13.3 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003386 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003387 16 16p13.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003388 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003721 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003722 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003723 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004328 16 16p13.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000005 16p13.2 16 ATA41E04 1.64 - - McCauley, 2005
AutLD0000026 16p13.2 16 D16S407 1.28 - - Bailey, 1998
AutLD0000037 16p13.2 16 D16S407 1.59 - - Monaco, 2001
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004
AutLD0000138 16p13.3 16 D16S748 - - 0.00117 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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