SNPMiner Trials by Shray Alag


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Report for Mutation E28D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Sodium Channel Splicing in Heart Failure Trial

The purpose of this research is to see if investigators can detect truncated mRNA splice variants of the cardiac voltage-gated sodium (Na+) channel gene, SCN5A, in patients with a weak heart (Heart Failure) with or without an implantable cardioverter-defibrillator (ICD) and compare them to patients with a normal heart. Hypothesis: 1. Patients with reduced left ventricular ejection fraction have increased abundances truncated mRNA splice variants of the SCN5A gene, which portends to sodium channel dysfunction and an increased risk for sudden cardiac death. 2. Patients with implantable cardioverter-defibrillator devices (ICDs) who have experienced shock therapy have increased abundances of truncated mRNA splice variants of the SCN5A gene compared to similar congestive heart failure patients who have not experienced shock therapy.

NCT01185587 Atrial Fibrillation Atrial Flutter Heart Failure
MeSH:Heart Failure Atrial Fibrillation Atrial Flutter
HPO:Atrial fibrillation Atrial flutter Congestive heart failure Left ventricular dysfunction Paroxysmal atrial fibrillation Right ventricular failure

These three splicing variants for the nonfunctional sodium channel gene product were denoted E28B, E28C, and E28D. --- E28C --- --- E28D ---

At the same time, the E28C and E28D mRNA abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C --- --- E28D ---

Primary Outcomes

Description: We will correlate the amount of white cell Na+ channel splice variants with ejection fraction in patients with an without heart failure and with the number of shocks in the patients with ICDs.

Measure: Amount of sodium channel splice variants

Time: At enrollment

Secondary Outcomes

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: ACE mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: Ang II mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: HIF-1α mRNA

Time: At enrollment

2 Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA)

This study is designed to test whether SCN5A mRNA processing is altered in OSA patients, which may contribute to their increased arrhythmic risk, and whether processing of SCN5A mRNA is modulated by CPAP treatment. Specific aims: 1. Compare sodium channel splicing variants in mild, moderate, or severe OSA patients at baseline to at 1 month after CPAP treatment. In addition, the baseline splicing variants of SCN5A in the OSA patients will be compared to an age-matched control group. 2. Hypoxia-associated upstream regulators of SCN5a mRNA splicing, Hypoxia-inducible factor 1-alpha (HIF-1α), RNA Binding Motif Protein 25 (RBM25) and LUC7-Like 3 Pre-MRNA Splicing Factor (LUC7L3), will be examined in OSA patients before and after 1 month of CPAP treatment.

NCT02725632 Sleep Apnea Syndromes Device: CPAP
MeSH:Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive
HPO:Apnea Obstructive sleep apnea Sleep apnea

Three truncated SCN5A mRNA splicing variants were identified (denoted variant B (E28B), variant C (E28C), and variant D (E28D)). --- E28C --- --- E28D ---

Among them, E28C and E28D abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C --- --- E28D ---

Primary Outcomes

Measure: The levels of sodium channel splicing variants that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks

Secondary Outcomes

Measure: The levels of potassium channels that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks


HPO Nodes


HP:0001635: Congestive heart failure
Genes 260
TRNF TF JUP TPM1 EPG5 EPAS1 DNAJC19 PHYH LMNA ND5 TCF4 ATXN7 TRNS2 VCL EYA4 TAZ NDUFAF1 ABCC6 BSCL2 NDUFAF3 MYH7 TTN SCN5A VPS33A SLC25A3 TRNL1 AGPAT2 TNNI3 COX3 MYH7 LIMK1 PRKAG2 SCO2 TBL2 MYSM1 ENG TRNS1 TNNI3K DMD KIF1B DES COG7 GBA JUP BAG3 MST1 TRNF TRNL1 PSMB8 SLC2A10 TMEM43 VHL HADHA SCN1B CDH23 MYH7 PPA2 MDH2 PTEN MYLK2 SGCD CLIC2 LDB3 IKBKG CLIC2 ACAD9 PRKAR1A TMEM70 TRNW HBA1 ND1 DES CYTB SDHB NSMCE2 HBB CAV3 TPI1 HFE COX2 CASR PEX7 AFF4 MECP2 CEP19 SURF1 EFEMP2 TRIP4 SF3B1 SDHC CLIP2 TNNT2 HNRNPA2B1 NDUFB11 FOS ADCY5 EYA4 CP TMEM127 ATP5F1A CACNA1S ELAC2 ND1 TRNQ ACTC1 SLC25A26 HAMP DLST NDUFB8 ADCY5 SMAD4 TRPM4 STAT1 TMEM127 DSP CAV1 SDHD HADHA TRNK FBLN5 TRNS1 FGD1 ALMS1 COX2 ENPP1 HNRNPA1 TUBB RAB3GAP2 TRNK MYL3 FLNA HLA-DRB1 RASA1 ADAMTSL2 GLA RET VHL SELENON SDHB PRKAR1A SLC25A11 CYTB TRNV LMNA LMNA SDHAF2 ACVRL1 GLA GNPTAB PSEN1 BMP2 TRNL1 GDF2 ALMS1 FBN1 DSP HADHB STRADA PNPLA2 SNAP29 PSMB8 GTF2I SDHD TRNW COX3 GJA1 MYH6 BCHE LMNA MYD88 NDUFS2 TRNH ATP6V1A COX1 FH DTNA HBA2 GATAD1 PSEN2 FGFR3 HFE LMNA GLB1 RPS19 FXN GPR35 AGGF1 ND5 SDHD ND4 KCNJ5 TRNQ TRNS2 CAV1 HADHB TRIM37 ELN TET2 KIF1B RBM20 COL1A2 LMNA COX1 RYR1 CAVIN1 CCR6 SCN4A PPARG FLNC BAZ1B CCN2 MYH7 HJV MAX LMNA VHL IRF5 ABCC6 SLC22A5 RET MYPN MYH7 PPARG WRN PLN COL1A1 TRNE MAPRE2 GTPBP3 ACAD9 VCP SLC17A5 SDHB RFC2 GTPBP3 SLC19A2 PLOD1 RET SDHA TTN ND6 DSP LMNA MAX IDS FGF23 ND6 GDNF PRDM16 IFIH1 NKX2-5 XYLT1 XYLT2 ENG GTF2IRD1 GNPTAB TRNC TRNK PRKAR1A GNA11
SNP 0
HP:0002104: Apnea
Genes 330
TRNF NDUFS7 DKK1 MKRN3-AS1 KIAA0586 CSPP1 PHOX2B OPA1 PRPH CTSD NDUFS1 USP7 CEP104 NGLY1 CPT2 COLQ GPR101 SLC2A1 PIGT VAMP1 TMEM237 PLCB4 EDN1 NDUFAF3 SKI FGFR3 MECP2 PWRN1 TRNL1 CHAT CC2D2A CISD2 RBM10 BUB1 BRAT1 SOD1 SCO2 PLAA PHOX2B MKS1 IDUA RET ND4 NADK2 SCN4A NDUFA9 GBA SLC6A9 CEP290 WFS1 TACO1 INPP5E DPH1 TCTN1 CEP290 RUNX2 CPLANE1 NDUFV1 MKS1 AMER1 TRNK KIAA0586 ASCL1 OFD1 TCF4 GDNF PIBF1 MCCC1 HERC2 TCTN2 GSN ND1 NDUFAF2 HSPD1 NEB GPHN PLCB4 PRMT7 CSPP1 TWIST1 SLC5A7 CLCN7 ASCL1 SFTPB COX2 GNE FOXRED1 AFF4 FAM149B1 DNA2 SURF1 ARCN1 TMEM67 NPHP1 CRYAB HTRA2 PEX5 NDUFS3 KIAA0556 KIF7 TMEM216 FBP1 GNE NDUFA11 ND3 PCGF2 LARP7 MYO9A LIAS AHDC1 FGFR3 TRNQ BUB1B PCCB SRPX2 RPGRIP1L ATP5F1A HSPG2 NDUFB8 CC2D2A GNAI3 TMEM138 SNORD116-1 CEP41 TBR1 IPW GNAI3 PTF1A TMEM107 PLPBP KCNQ2 INPP5E INPP5E TSPYL1 TMEM216 NFIX TRNS1 TMEM67 SLC25A20 NDUFS8 NEK1 NDUFS2 CTNNB1 FBN1 MAGEL2 COQ2 PCK1 FARS2 GABBR2 GPR101 COQ2 NGLY1 GLRA1 NDUFA13 MYO9A TRNL1 KIAA0753 RET FBP1 RNF125 PSAP TMEM237 NDUFS4 MKRN3 BRAF CHRNE PRNP LIFR ATN1 IDUA COL3A1 LAMB2 BMP2 FGFR2 SLC52A2 TECPR2 GABRG2 NDUFA2 TNFSF11 SDHA ZC4H2 NDUFAF2 NDN TCF4 NDUFAF5 B9D1 ND1 TCIRG1 CEP120 C2CD3 TRIP13 SNORD115-1 ARL13B CSPP1 NDUFA12 NACC1 BRAT1 ND6 SNX10 NALCN ECHS1 RARS2 BTD ACY1 SLC6A5 SKI NDUFV2 ND2 SLC5A7 AIP RPS6KA3 PDHA1 CPLANE1 PRPS1 GBA ND5 TSPYL1 DCTN1 MTFMT TRNW COX3 GLUL TSEN54 PLAA LIFR HMGCL DNA2 P4HTM CEP120 UNC80 PDE6D PCCA NDUFS2 SCN2A NDUFA4 TRNH D2HGDH LTBP3 COX1 SCN5A FGFR3 AHI1 NDUFA2 FGFR3 ND5 NDUFAF6 ATP6 ND4 AGRN ZNF423 TRNS2 HRAS SNAP25 COL13A1 RPGRIP1L ALPL MAGEL2 CEP57 NONO TCTN3 SNRPN SH3BP2 TECPR2 SLC25A1 KIAA0586 PWAR1 FGFR2 CCDC47 BUB3 POGZ SLC19A3 FLCN RPGRIP1L KIF5A PDHA1 NPAP1 NDUFS1 PEX13 PET100 ABCA3 TMEM237 NDUFS8 RAI1 ECHS1 TOE1 AHI1 SLC52A3 TRNV SLC18A3 SOX9 SLC18A3 CEP57 TMEM216 DST LIPT1 MECP2 CEP41 ARL3 SYT2 KAT6B GRIN2A NDUFV1 AHDC1 IDS HYLS1 SYT1 ND6 TMEM231 SYT1 SLC39A8 AHI1 SURF1 ACADSB EDN3 TRPV4 INPP5E BTD EP300 RERE ARMC9 ARMC9 CHAT COX15 PIBF1 NDUFA10 CREBBP SCN4A NEFH DPAGT1 TRNW