Gene | Associated with BRONCHIECTASIS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
SCNN1G | ClinVar, OMIM | HGNC link | 16p12.2 | 3 | 177200, 264350, PS211400 |
CFTR | ClinVar, OMIM | HGNC link | 7q31.2 | 4 | 277180, PS211400, 219700, 167800 |
SCNN1A | ClinVar, OMIM, HUMSAVAR | HGNC link | 12p13.31 | 2 | PS211400, 264350 |
SCNN1B | ClinVar, OMIM, HUMSAVAR | HGNC link | 16p12.2 | 3 | 177200, 264350, PS211400 |
Download the disease annotation in CSV format
Common tandem group | Number of genes in this tandem group associated to this disease | Genes in this tandem group associated to this disease |
---|---|---|
Group 697 | 2 | SCNN1B, SCNN1G |
Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p12.2 | 2 | SCNN1B, SCNN1G |
Shared band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p12 | 2 | SCNN1B, SCNN1G |
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p1 | 2 | SCNN1B, SCNN1G |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
CFTR | YES | 12 | SRF, RELA, YY1, ATF1, CUX1, CREB1, NFE2L2, TFAP2A, CDX2, NFKB1, STAT1, USF2 | 0 | |
SCNN1A | YES | 2 | MLLT3, NR3C1 | 0 | |
SCNN1B | YES | 1 | SP1 | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
SCNN1G | CFTR | No | 3 | COMMD1, NEDD4, STX1A |
SCNN1G | SCNN1A | No | 10 | STX1A, AP1M2, SCNN1B, USP2, NEDD4L, SERP1, WWP2, USP8, EPN1, NEDD4 |
SCNN1G | SCNN1B | Yes | 10 | COMMD1, STX1A, AP1M2, USP2, NEDD4L, SERP1, WWP2, USP8, EPN1, NEDD4 |
CFTR | SCNN1A | No | 4 | UBE2I, USP10, STX1A, NEDD4 |
CFTR | SCNN1B | No | 3 | COMMD1, NEDD4, STX1A |
SCNN1A | SCNN1B | Yes | 12 | USP8, AP1M2, HGS, USP2, NEDD4L, SERP1, STX1A, ITCH, EPN1, HECW1, NEDD4, WWP2 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Interaction mode | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
SCNN1G | CFTR | No | - | 2 | UBC, NEDD4 |
SCNN1G | SCNN1A | Yes | binding | 24 | SGK2, NEDD4, WWP1, USP2, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, WNK1, WNK2, SCNN1B, UBC, SCN8A, SGK1 |
SCNN1G | SCNN1B | Yes | binding | 23 | SGK2, WWP1, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, SCNN1A, WNK2, WNK1, NEDD4, UBC, SCN8A, SGK1 |
CFTR | SCNN1A | No | - | 2 | UBC, NEDD4 |
CFTR | SCNN1B | No | - | 3 | UBC, COMMD1, NEDD4 |
SCNN1A | SCNN1B | Yes | binding | 23 | SGK2, WWP1, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCNN1G, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, WNK1, WNK2, NEDD4, UBC, SCN8A, SGK1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct interaction | More information |
---|---|---|---|
SCNN1A | SCNN1B | yes, complex | Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt] |
SCNN1A | SCNN1G | yes, complex | Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt] |
SCNN1B | SCNN1G | yes, complex | They form a heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt] |
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Aldosterone-regulated sodium reabsorption | hsa04960 | 7.41 | 3 | SCNN1G, SCNN1A, SCNN1B |
Taste transduction | hsa04742 | 6.99 | 3 | SCNN1G, SCNN1A, SCNN1B |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Sensory system | NEW | 3.67 | 0.004 | SCNN1G, SCNN1A, CFTR, SCNN1B |
Excretory system | NEW | 5.45 | 0.0 | SCNN1G, CFTR, SCNN1A, SCNN1B |
Aldosterone-regulated sodium reabsorption (hsa04960) | - | 7.41 | 0.0 | SCNN1G, SCNN1A, SCNN1B |
Taste transduction (hsa04742) | - | 6.99 | 0.0 | SCNN1G, SCNN1A, SCNN1B |
FoxO signaling pathway (hsa04068) | NEW | 5.63 | 0.018 | SCNN1G, SCNN1A, CFTR |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 | 4 | SCNN1G, CFTR, SCNN1A, SCNN1B |
Ion channel transport | R-HSA-983712 | 5.34 | 3 | SCNN1G, SCNN1A, SCNN1B |
Stimuli-sensing channels | R-HSA-2672351 | 6.28 | 3 | SCNN1G, SCNN1A, SCNN1B |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Ion channel transport (R-HSA-983712) | - | 5.34 | 0.0 | SCNN1G, CFTR, SCNN1A, SCNN1B |
Transmembrane transport of small molecules (R-HSA-382551) | - | 3.79 | 0.0 | SCNN1G, CFTR, SCNN1A, SCNN1B |
Stimuli-sensing channels (R-HSA-2672351) | - | 6.28 | 0.0 | SCNN1G, SCNN1A, CFTR, SCNN1B |