Gene "IFIH1"
Found 8 records
Gene information
Gene symbol:
IFIH1
See related:
Ensembl: ENSG00000115267, Gene ID: 64135
Additive variants :
Detected
Genetic interaction partners
Confidence      Stringent (ε>0.16 or ε<-0.12)      Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)      Lenient (|ε|<0.08)
Positive interactions
  • ADHFE1 
  • PEX10 
  • ARHGAP35 
  • KIAA1109 
  • PTRH1 
  • ROMO1 
  • NGLY1 
  • LARP7 
  • PEX14 
  • ACTR6 
  • EP400 
  • CRLS1 
  • THNSL1 
  • CTU1 
  • GLRX2 
  • LYST 
  • PEX1 
  • PSMA4 
  • RTF1 
  • PCSK9 
  • PUS1 
  • CWH43 
  • MAN1A2 
  • GSK3B 
  • CLK2 
  • SHPRH 
  • RPL10A 
  • RPS18 
  • ZMPSTE24 
  • REXO5 
  • DUS4L 
  • ARIH1 
  • MTOR 
  • USP41 
  • CLPB 
  • PRKD1 
  • RPS3A 
  • CLN3 
  • HMGB2 
  • ABHD5 
  • DCUN1D5 
  • GLRX2 
  • CAMKK2 
  • TMEM87A 
  • EEF2 
  • FIGNL2 
  • DNAJC5B 
  • BTF3L4 
  • ARHGEF2 
  • ARL1 
  • METTL2A 
  • ANKZF1 
  • PQLC2L 
  • PDXK 
  • CHMP1A 
  • SMARCB1 
  • RHOH 
  • EXO1 
  • SH3YL1 
Negative interactions
  • XPC 
  • MRM2 
  • LIPT1 
  • PFDN6 
  • TRMT44 
  • H3F3C 
  • RPS10 
  • FKBP15 
  • PGLS 
  • VRK1 
  • ALDH4A1 
  • LENG8 
  • GRTP1 
  • UBQLN4 
  • RAB7A 
  • MON1B 
  • ZFP36L2 
  • COPS5 
  • PFDN4 
  • POLI 
  • TBK1 
  • ANPEP 
  • CMBL 
  • SNX7 
  • PEX12 
  • GPT 
  • SLC25A28 
  • PRDX1 
  • OVCA2 
  • TKTL2 
  • ERN1 
  • KATNA1 
  • PRKG2 
  • OGG1 
  • XRCC3 
  • RPL13 
  • TOM1 
  • PGM1 
  • PGLS 
  • SLC27A3 
  • PM20D1 
  • RIT1 
  • DOHH 
  • MSRB3 
  • RAB5B 
  • MYO15B 
  • GLO1 
  • PPAT 
Modifier statisitcs
Record:
8 
Disorder:
1 
Vriant:
4 
Reference:
1 
Effect type:
Expressivity(8)  
Modifier effect:
Risk factor(8)  
Details：
  • Variant 1:
    IFIH1:c.2807+1G>A
    Gene:
    IFIH1
    Genomic location:
    chr2:163124596
    dbSNP ID:
    rs35732034
    Alias:
    IFIH1:IVS14+1
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.74, 95% CI: (0.59-0.94), P=1.2×10(-2) 
    Effect:
    Reduced risk of type 1 diabetes
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 2:
    IFIH1:c.2807+1G>A
    Gene:
    IFIH1
    Genomic location:
    chr2:163124596
    dbSNP ID:
    rs35732034
    Alias:
    IFIH1:IVS14+1
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.74, 95% CI: (0.59-0.94), P=1.2×10(-2) 
    Effect:
    Reduced risk of T1DM
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 3:
    IFIH1:c.2767A>G(p.Ile923Val)
    Gene:
    IFIH1
    Genomic location:
    chr2:163124637
    dbSNP ID:
    rs35667974
    Alias:
    IFIH1:I923V
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.51, 95% CI: (0.43-0.61), P=1.3×10(-14) 
    Effect:
    Reduced risk of type 1 diabetes
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 4:
    IFIH1:c.2767A>G(p.Ile923Val)
    Gene:
    IFIH1
    Genomic location:
    chr2:163124637
    dbSNP ID:
    rs35667974
    Alias:
    IFIH1:I923V
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0049 
    Effect:
    Reduced risk of T1DM
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 5:
    IFIH1:c.1879G>T(p.Glu627*)
    Gene:
    IFIH1
    Genomic location:
    chr2:163134090
    dbSNP ID:
    rs35744605
    Alias:
    IFIH1:E627X
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.69, 95% CI: (0.52-0.91), P=9.0×10(-3) 
    Effect:
    Reduced risk of type 1 diabetes
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 6:
    IFIH1:c.1879G>T(p.Glu627*)
    Gene:
    IFIH1
    Genomic location:
    chr2:163134090
    dbSNP ID:
    rs35744605
    Alias:
    IFIH1:E627X
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.69, 95% CI: (0.52-0.91), P=9.0×10(-3) 
    Effect:
    Reduced risk of T1DM
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 7:
    IFIH1:c.1641+1G>C
    Gene:
    IFIH1
    Genomic location:
    chr2:163136505
    dbSNP ID:
    rs35337543
    Alias:
    IFIH1:IVS8+1
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.000044 
    Effect:
    Reduced risk of type 1 diabetes
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Variant 8:
    IFIH1:c.1641+1G>C
    Gene:
    IFIH1
    Genomic location:
    chr2:163136505
    dbSNP ID:
    rs35337543
    Alias:
    IFIH1:IVS8+1
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.68, 95% CI: (0.56-0.83), P=1.1×10(-4) 
    Effect:
    Reduced risk of T1DM
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.