PhenoModifier-Gene Detail

Gene "DCTN1"

Found 2 records

Gene information

Gene symbol:

DCTN1

See related:

Ensembl: ENSG00000204843, Gene ID: 1639

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	DYNC2H1 BRSK1 PTPA CNIH3 RACK1 CHTF18 PPIP5K1 RPL7A ELOF1 PPP6R3 ANKRD11 PFKFB2 PIF1 KIF26A SC5D TBL1XR1 PSMA4 ING3 FOXJ3 GEN1 PTRH1 MAD2L1 TESC OSGEPL1 ALG12 CDC25B SLC25A17 UBC CDC73 PGLS PGAP1 KIAA1109 MAP3K4 LEO1 ALG6 TMED10 WDHD1 RFX4 GATA2 CSNK2B ALG3 GPD2 SIN3A MGLL NRAS SIGMAR1 FOXJ3 MEMO1 PCYT2 RRM1 TCF25 GORASP1 ELP2 SEL1L PPP6R3 PCSK9 AP4S1 DPYD RAD54L DUS4L RCOR1 ALDH3B1 STX2 PPP2R5C SUCLG1 NEDD8 NIT2 OLA1 RAB5B GSS MLH1 KMO DNAJA3 ATE1 ANKRD55 CNDP1 TRMT12 RPL13A TBK1 SLC35F5 GOLPH3L SNX2 FKBP15 SLC38A7 TRAPPC6A CYB5B MAST2 AGL MAPK11 NUDT5 RPS6KA1 RNASEH2A ALG8 TAZ GCLC RAB24 PA2G4 ASNA1 HIST2H4B RAB5B SUCO COX6B2 MOV10 CERK show allhide
Negative interactions	KIF2C FOXD3 VAPB CCNA2 MON1B PFDN4 RAB7A ABCC6 RPS24 PFDN6 KIFC2 TUBA3D UBA52 NKTR CAPZA2 YEATS4 FIS1 USP35 MRTO4 EP400 VPS29 DNM1L HAAO ACTR6 WDR48 PITRM1 CAPZB OVCA2 RPL9 TPT1 BUD31 RPS16 PDHA2 RPS8 PPAT ASF1A TXNDC9 RPS27 RPL8 NOLC1 TTF2 RPL4 RPS25 RANGRF PELO CORO2B ORMDL2 CHAC1 MORF4L1 RPL11 RPS11 SLC25A32 DENR RPL35 IPO8 RPS29 TEAD4 CLPB RPL35 FAU PIAS1 ASH1L AIRE HGS PEX14 TARBP1 TBC1D22A RPL31 USP17L30 NF1 UBE2N VPS35 AADAT RPS21 FKBP1A TSR3 EEF2 RBMX2 HMGB2 SNAPC4 AMD1 PAN2 MTOR RPL17-C18orf32 KIF4B PCYT1A RPS3A KATNA1 TRMT1L EXO1 RPL36 WDR45B ZNF598 VPS26B ETFA HSPA13 TTF2 CYB5R1 IAH1 DPYSL2 MELK RPLP2 LIAS TGFBRAP1 WDR1 VAC14 CPA1 GRTP1 TTC31 ARHGDIB TXNL1 AP1G1 RHOT2 SCAP IMPDH1 TRMT11 LENG8 BRSK1 CHIA COQ7 GLIPR2 SRM WWOX ADCK1 OGG1 ATG3 TREH GSK3B DDX21 GYG1 RHEB CHAF1B ECHDC2 CTDSPL2 METTL14 ZFAND1 PLPP4 TST SNX10 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(2)

Modifier effect:

Risk of respiratory failure or death(2)

Details：

Variant 1:

DCTN1:rs756392974

Gene:

DCTN1

Genomic location:

dbSNP ID:

rs756392974

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:

DCTN1:rs113980038

Gene:

DCTN1

Genomic location:

dbSNP ID:

rs113980038

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.