| Gene ID | 3202 |
| Symbol | HOXA5 |
| Synonymous | HOX1|HOX1.3|HOX1C |
| Full name | homeobox A5 |
| Gene description | homeo box 1C|homeo box A5|homeobox protein HOXA5|homeobox protein Hox-1C|homeobox protein Hox-A5 |
| Cytoband | 7p15.2 |
| Gene type | protein-coding |
| Synonymous | MIM:142952; HGNC:HGNC:5106; Ensembl:ENSG00000106004; HPRD:00840; Vega:OTTHUMG00000023214 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.492C>A; p.S164R; 7:27143116-27143116 |
breast | carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 7:27143160-27143160 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.179G>A; p.G60D; 7:27143429-27143429 |
skin | malignant_melanoma | Substitution - Missense |
c.322C>T; p.P108S; 7:27143286-27143286 |
skin | malignant_melanoma | Substitution - Missense |
c.756delA; p.D253fs*4; 7:27141892-27141892 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.40C>T; p.P14S; 7:27143568-27143568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.300G>T; p.P100P; 7:27143308-27143308 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.665G>A; p.R222H; 7:27141983-27141983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.312C>T; p.S104S; 7:27143296-27143296 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.194G>T; p.G65V; 7:27143414-27143414 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.480G>A; p.A160A; 7:27143128-27143128 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.443G>C; p.G148A; 7:27143165-27143165 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.97C>T; p.Q33*; 7:27143511-27143511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.34C>A; p.R12S; 7:27143574-27143574 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.86C>T; p.S29F; 7:27143522-27143522 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>G; p.H136D; 7:27143202-27143202 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.29delG; p.C10fs*21; 7:27143579-27143579 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.29delG; p.C10fs*21; 7:27143579-27143579 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.29delG; p.C10fs*21; 7:27143579-27143579 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.29delG; p.C10fs*21; 7:27143579-27143579 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.757G>T; p.D253Y; 7:27141891-27141891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.714A>G; p.Q238Q; 7:27141934-27141934 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.716T>C; p.I239T; 7:27141932-27141932 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>T; p.G11C; 7:27143577-27143577 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.P108H; 7:27143285-27143285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733A>C; p.N245H; 7:27141915-27141915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.351C>T; p.G117G; 7:27143257-27143257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.584G>T; p.G195V; 7:27142064-27142064 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.682A>G; p.I228V; 7:27141966-27141966 |
breast | carcinoma | Substitution - Missense |
c.610C>T; p.R204C; 7:27142038-27142038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.262C>T; p.Q88*; 7:27143346-27143346 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.485C>G; p.A162G; 7:27143123-27143123 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.G67R; 7:27143409-27143409 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.349G>T; p.G117C; 7:27143259-27143259 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.800C>A; p.A267D; 7:27141848-27141848 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.97C>A; p.Q33K; 7:27143511-27143511 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>A; p.A132T; 7:27143214-27143214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.460C>A; p.P154T; 7:27143148-27143148 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.583G>A; p.G195S; 7:27142065-27142065 |
skin | malignant_melanoma | Substitution - Missense |
c.160C>T; p.L54F; 7:27143448-27143448 |
ovary | carcinoma | Substitution - Missense |
c.490A>T; p.S164C; 7:27143118-27143118 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.357A>T; p.K119N; 7:27143251-27143251 |
skin | malignant_melanoma | Substitution - Missense |
c.311C>T; p.S104F; 7:27143297-27143297 |
breast | carcinoma | Substitution - Missense |
c.624G>A; p.L208L; 7:27142024-27142024 |
skin | malignant_melanoma | Substitution - coding silent |
c.595C>T; p.R199W; 7:27142053-27142053 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.R199W; 7:27142053-27142053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.694C>G; p.L232V; 7:27141954-27141954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.694C>G; p.L232V; 7:27141954-27141954 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.240G>A; p.A80A; 7:27143368-27143368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.787G>T; p.A263S; 7:27141861-27141861 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.125_126CC>AA; p.S42*; 7:27143482-27143483 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.177G>T; p.S59S; 7:27143431-27143431 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.404C>G; p.T135S; 7:27143204-27143204 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.425G>A; p.G142E; 7:27143183-27143183 |
skin | malignant_melanoma | Substitution - Missense |
c.120G>A; p.M40I; 7:27143488-27143488 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.679G>A; p.E227K; 7:27141969-27141969 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.786C>T; p.A262A; 7:27141862-27141862 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.805C>T; p.R269C; 7:27141843-27141843 |
skin | malignant_melanoma | Substitution - Missense |
c.458C>A; p.A153D; 7:27143150-27143150 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.610C>A; p.R204S; 7:27142038-27142038 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.805C>T; p.R269C; 7:27141843-27141843 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.652C>T; p.R218C; 7:27141996-27141996 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.634_636delAAG; p.K212delK; 7:27142012-27142014 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.784G>T; p.A262S; 7:27141864-27141864 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>A; p.R181H; 7:27143066-27143066 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.126C>A; p.S42S; 7:27143482-27143482 |
liver | carcinoma | Substitution - coding silent |
c.542G>A; p.R181H; 7:27143066-27143066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.126C>A; p.S42S; 7:27143482-27143482 |
liver | carcinoma | Substitution - coding silent |
c.516C>A; p.A172A; 7:27143092-27143092 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |