PhenoModifier-Gene Detail

Gene "STX1A"

Found 1 record

Gene information

Gene symbol:

STX1A

See related:

Ensembl: ENSG00000106089, Gene ID: 6804

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	ATP10B VPS8 MAF1 EMC1 RER1 SBK1 EPS15 BUD31 SLC13A4 USP14 ALG6 PIGG LYST RAB5B USP10 KATNA1 DDX11 PAN2 AP3B2 MRM2 PAN3 AP3D1 SC5D ATG3 EMC3 PEF1 SFN TRAPPC6A SHMT2 KDM4A AP3S2 CHMP5 RAD17 RPL22L1 ACSS3 HHATL STAM2 ANKRD11 MON1B LSM7 ALG8 PCSK9 HSPA13 ALPL RPS29 HCFC2 CHMP1A COX10 RPL22L1 MSH4 MGAM2 POMT2 YEATS4 GLUD2 ATG5 ALG5 HAGHL ADCK1 RPS6KA1 CLCN2 EDF1 CCNA2 ASNS RAB25 MAEA LIPT1 ABHD5 CRLS1 ISCU HHATL OTUD6A UBQLN4 HIPK2 METTL18 PI4K2A RPL9 RANGRF SLX1B SEC24D TBC1D20 ACAA1 RPS21 KIF6 EEF1G EMC4 TEX261 LETM1 MAN1A2 SMARCB1 SHMT2 ACOT8 NIF3L1 CTDNEP1 PGLS H3F3C GGT7 MAD2L1 ATG7 VAC14 PGGHG TRIP12 HFM1 HIBCH DOHH HORMAD1 TXNRD1 PDXK MYO15B GLIPR2 VAPB TSSK3 TTF2 VRK1 TALDO1 PSD3 CAPZB show allhide
Negative interactions	STX2 USP13 RBBP5 OSBP VPS26B PEX10 PEX13 SNX10 WDR59 TESC PSMA4 RTF1 H2AFX PEX14 IDH3A EPN3 IPO8 VPS29 ZFP42 MAP3K2 RNF20 GALT IMMP2L GID4 THNSL1 PPIP5K1 CAMKK2 VPS35 PEX1 GSS ZMPSTE24 DBR1 FA2H ARL1 PEX5L UPF2 PPME1 TTC37 STRIP2 PRKAG2 VAMP2 IDH3B GCN1 H2AFX DNM1L C2orf76 XRN1 NRAS DMGDH PICALM CHD8 D2HGDH RFX4 NFYC USP4 TKTL2 SLC11A2 UBE3C HIST2H4B SGPP2 MTHFR MORF4L1 CAMK2D KIAA1109 CSNK2A2 ARL9 TRMT2A RCE1 BTF3L4 DNAJA4 CSNK2B KTI12 TGIF2 BMP2K ZFP42 ATAD2 POLI XPNPEP2 MTOR LIPM MEF2A TOM1 TPT1 TBC1D22A RPL26 NUDT13 PIM3 MOV10 HAO2 GEN1 SNX7 ELP2 EEF1A2 RHOT2 AIRE WDR48 ROMO1 GCLC PPTC7 KDM5C PPP6R3 SIRT4 ELOVL1 BMP2K MECOM AP2M1 CTSA CCNA2 PSPH RPS28 NF1 PSMD4 PPP2R5C SGTB PICALM SLC30A8 RHOH CLUH LTN1 GRK7 TMED9 DUS2 SFXN1 GYG1 ATP13A3 MAPKAPK5 FAU POMT2 PRKG2 NMNAT1 RPS14 ABCC6 WDHD1 LTA4H MDH2 MOCS3 RPSA show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Pleiotropy(1)

Modifier effect:

Altered phenotype(1)

Detail：

Variant 1:

STX1A:rs2228607

Gene:

STX1A

Genomic location:

dbSNP ID:

rs2228607

Target disease:

Cystic fibrosis(DOID_1485)

Effect type:

Pleiotropy

Modifier effect:

Altered phenotype

Evidence:

From review article

Effect:

Lung disease

Reference:

PMID25053892

Title:

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

Species studied:

Human

Abstract:

The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.