PhenoModifier-Gene Detail

Gene "MYB"

Found 1 record

Gene information

Gene symbol:

MYB

See related:

Ensembl: ENSG00000118513, Gene ID: 4602

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	GGPS1 VPS8 PPM1L PDCD6IP FIGNL2 ADA TOP1 RPL22L1 LSM7 PDHA2 PIF1 CNIH3 DLAT RPL31 ECHDC2 FOXD3 THADA RPL9 RPL35 DNAJA4 LSM1 RPL17-C18orf32 SIN3A DDX21 ARL14 PPAN IMPA2 OLA1 RPLP2 FA2H ENPP2 RAB5B LDHD SRPK2 GRTP1 TRMU ERMP1 RAD51 EEF2 ADAP2 MOGAT3 ABHD2 CRAT CRY2 ATG3 SCYL1 OTUD6A PDXP RBKS UPF2 WDR76 TKFC ABHD5 SLC13A4 NIT1 CYB5R1 TST SLC38A7 CYCS DOT1L IAH1 ADH7 EXO1 AK4 EMC1 TTF2 HGH1 show allhide
Negative interactions	ATIC GCN1 ABCF3 PSAT1 ZDHHC4 ATP1A1 PSPH CYC1 COQ7 COX10 THNSL1 ELOC REXO5 OSGEPL1 DDX11 ISCU PPIP5K1 CSNK2B SLC25A17 MON1B ELOVL1 SUB1 AP3B2 NUDT5 EEF1G FIS1 MOK PYGM DTD1 GSK3B LIAS SUCLG1 FBP1 POMT2 DDX59 TGFBRAP1 RPS14 ALG3 HSPA4L DCLRE1B STX2 ZC3H15 GALT XRN1 UBXN7 MTHFS TRAPPC6A PTPA SLC30A8 ALG5 SLC25A32 SNX2 NTHL1 PEX5L QPRT TRNAU1AP WDR48 RPEL1 KIF2C PPP6C RTN4IP1 METTL11B PRKD1 TVP23B PXMP2 IDH2 LETM1 TTC37 SLC25A35 CMBL ASH1L STX2 HFM1 SLX1B show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered fetal hemoglobin (HbF) levels(1)

Detail：

Variant 1:

MYB:c.1991C>T(p.Ser664Leu)

Gene:

MYB

Genomic location:

chr6:135522817

dbSNP ID:

rs112653372

Target disease:

Sickle Cell Anemia(DOID_10923)

Effect type:

Expressivity

Modifier effect:

Altered fetal hemoglobin (HbF) levels

Evidence:

P=0.005

Effect:

Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.

Reference:

PMID21057501

Title:

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.

Species studied:

Human

Abstract:

We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.