| Gene ID | 53827 |
| Symbol | FXYD5 |
| Synonymous | DYSAD|HSPC113|IWU1|KCT1|OIT2|PRO6241|RIC |
| Full name | FXYD domain containing ion transport regulator 5 |
| Gene description | FXYD domain-containing ion transport regulator 5|dysadherin|keratinocytes associated transmembrane protein 1 |
| Cytoband | 19q13.12 |
| Gene type | protein-coding |
| Synonymous | MIM:606669; HGNC:HGNC:4029; Ensembl:ENSG00000089327; HPRD:09448; Vega:OTTHUMG00000048092 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.298C>A; p.P100T; 19:35164161-35164161 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.354G>C; p.Q118H; 19:35164217-35164217 |
ovary | other; neoplasm | Substitution - Missense |
c.134G>A; p.R45Q; 19:35157493-35157493 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.434G>A; p.R145Q; 19:35166272-35166272 |
skin | malignant_melanoma | Substitution - Missense |
c.84G>A; p.T28T; 19:35157443-35157443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.500G>A; p.R167K; 19:35169578-35169578 |
skin | malignant_melanoma | Substitution - Missense |
c.318G>A; p.T106T; 19:35164181-35164181 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.150C>G; p.V50V; 19:35158351-35158351 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.70T>C; p.L24L; 19:35157429-35157429 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.393G>C; p.E131D; 19:35166152-35166152 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.216G>T; p.Q72H; 19:35160725-35160725 |
breast | carcinoma | Substitution - Missense |
c.249G>T; p.G83G; 19:35160758-35160758 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.480C>T; p.I160I; 19:35166318-35166318 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.410A>C; p.Y137S; 19:35166169-35166169 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.454G>C; p.V152L; 19:35166292-35166292 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511C>T; p.R171W; 19:35169589-35169589 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.448G>A; p.A150T; 19:35166286-35166286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.238G>A; p.G80R; 19:35160747-35160747 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.334T>C; p.S112P; 19:35164197-35164197 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.310A>G; p.T104A; 19:35164173-35164173 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.427C>T; p.R143W; 19:35166265-35166265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>T; p.R176C; 19:35169604-35169604 |
skin | malignant_melanoma | Substitution - Missense |
c.511C>A; p.R171R; 19:35169589-35169589 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.438G>A; p.G146G; 19:35166276-35166276 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.497G>A; p.C166Y; 19:35169575-35169575 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.497G>A; p.C166Y; 19:35169575-35169575 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.177A>G; p.P59P; 19:35158378-35158378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.377C>T; p.P126L; 19:35164240-35164240 |
liver | carcinoma | Substitution - Missense |
c.188G>A; p.W63*; 19:35158389-35158389 |
breast | carcinoma | Substitution - Nonsense |
c.462C>T; p.F154F; 19:35166300-35166300 |
skin | malignant_melanoma | Substitution - coding silent |
c.28C>G; p.L10V; 19:35155578-35155578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.28C>G; p.L10V; 19:35155578-35155578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.229C>A; p.Q77K; 19:35160738-35160738 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.229C>A; p.Q77K; 19:35160738-35160738 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.46A>G; p.I16V; 19:35155596-35155596 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.46A>G; p.I16V; 19:35155596-35155596 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.103T>G; p.S35A; 19:35157462-35157462 |
thyroid | other; neoplasm | Substitution - Missense |
c.315G>A; p.T105T; 19:35164178-35164178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.315G>A; p.T105T; 19:35164178-35164178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.315G>A; p.T105T; 19:35164178-35164178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |