PhenoModifier-Gene Detail

Gene "ARHGEF28"

Found 3 records

Gene information

Gene symbol:

ARHGEF28

See related:

Ensembl: ENSG00000214944, Gene ID: 64283

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	HDAC7 KATNA1 HHATL RHOT2 HGS DLAT EPS15 CSNK2B PLAA PELO COG6 DICER1 DENR VPS13D ZDHHC4 PGAP1 STRIP2 XPO5 WDHD1 TGFBRAP1 RCOR1 PSMD4 TKTL2 RIT1 SLC11A2 METTL18 PIF1 DDX11 ROMO1 USP13 CCNA2 PGLS PIM3 RBBP5 ECHDC2 CCNA2 VPS26B MAEA IDH3B CHMP5 TOMM70 VPS35 SRPK2 PRKG2 PDCD6IP ASNA1 USP10 DNAJA3 AP2A2 XRCC3 MAP3K4 NAP1L1 TRNAU1AP ARL1 CLN3 CRLS1 MELK GEN1 INPP5E PEF1 EP400 UBQLN4 C2orf76 SLC20A1 FAF1 GRAMD2A RPS4X BTF3L4 AZIN2 PEX1 EEF1A2 DOHH VAPB MSH2 TRIP13 SUCO UBE2N UPF2 TCF25 RPS25 CCDC25 PFAS GLRX3 LIPM ISCU GSS PGLS TBL1XR1 RMND5B GCLC VPS29 MOGAT3 CS PRELID3A ATM TVP23B MSH5-SAPCD1 AGL ATP10B RTN4IP1 ABAT KDM4A TSTD1 GGPS1 PM20D1 RPS7 SELENOO GYG1 ERMP1 MTHFS TRMT2A SNX2 RPL35 SLC13A4 SLC35F5 UCK2 ERCC6 KIF2C NIT1 RHEB HFM1 SFN ATE1 EPN3 APIP UBE2V2 SEC24D SCP2 UBXN7 RPL13A show allhide
Negative interactions	POMT2 RHOH LSM7 DDX31 ELP2 MORF4L1 KTI12 USP41 HIRA TUSC3 PIGG EVI5 PTPA TTC31 TMED10 SLC3A1 USP17L30 H2AFX PQLC2L WDR48 RCE1 SERINC2 PFDN4 NUDT5 ARHGEF2 EGR3 ALDH6A1 COPS5 BIN3 PAN2 ZFP36L2 SLC30A8 GPT ARHGAP35 CWH43 SMARCAD1 GATA2 CTU1 ALG6 TIPRL CHN1 ELP3 DNAJC17 RPS29 VPS41 RRAGA ZFP42 ANKZF1 CANX UBE3C PPAT TRIAP1 SAC3D1 PTRH1 DPH2 ME1 GATA2 TRMT12 MIOS SURF4 REXO5 ZNF598 TIA1 SLC11A2 TRMU AP3B2 MAN2C1 LEO1 TSR3 ABCB9 SMARCB1 SLC25A1 REEP4 VAMP2 STX2 PEX14 ENPP2 PSPH ISY1-RAB43 BMP2K DRG2 MAPKAPK5 HSPA4L RAB7A BMP2K MOCS3 NFYB RTF1 D2HGDH NTHL1 RPL11 ARHGDIB ALG5 PCSK9 PBLD BTF3L4 MON1B TXNL1 ARHGAP29 TMED9 NAE1 PPAN TYW1 ENO1 RBM34 PAN3 DDX59 BRDT PRKG2 SNAPC4 ZGRF1 USP35 CACNA1D DBR1 ATG9B GPX7 RPS11 CNIH3 UBE2D3 RPSA AADAT NLN TMEM165 BRSK1 SLC38A7 RAD52 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(3)

Modifier effect:

Risk of respiratory failure or death(3)

Details：

Variant 1:

ARHGEF28:rs910577863

Gene:

ARHGEF28

Genomic location:

dbSNP ID:

rs910577863

Target disease:

Amyotrophic Lateral Sclerosis(DOID_332)

Effect type:

Expressivity

Modifier effect:

Risk of respiratory failure or death

Evidence:

After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098).

Effect:

The presence of the rare variant was associated with the risk of ALS

Reference:

PMID28709720

Title:

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Species studied:

Human

Abstract:

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.
Variant 2:

ARHGEF28:rs763687499

Gene:

ARHGEF28

Genomic location:

dbSNP ID:

rs763687499

Target disease:

Amyotrophic Lateral Sclerosis(DOID_332)

Effect type:

Expressivity

Modifier effect:

Risk of respiratory failure or death

Evidence:

After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098).

Effect:

The presence of the rare variant was associated with the risk of ALS

Reference:

PMID28709720

Title:

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Species studied:

Human

Abstract:

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.
Variant 3:

ARHGEF28:rs369597044

Gene:

ARHGEF28

Genomic location:

dbSNP ID:

rs369597044

Target disease:

Amyotrophic Lateral Sclerosis(DOID_332)

Effect type:

Expressivity

Modifier effect:

Risk of respiratory failure or death

Evidence:

After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098).

Effect:

The presence of the rare variant was associated with the risk of ALS

Reference:

PMID28709720

Title:

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Species studied:

Human

Abstract:

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.