| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 8100 |
Name | IFT88 |
Synonymous | intraflagellar transport 88;IFT88;intraflagellar transport 88 |
Definition | TPR repeat protein 10|intraflagellar transport 88 homolog|intraflagellar transport protein 88 homolog|polaris homolog|probe hTg737 (polycystic kidney disease, autosomal recessive)|recessive polycystic kidney disease protein Tg737 homolog|tetratricopeptide |
Position | 13q12.1 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.10. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.1226+1G>A; p.?; 13:20615880-20615880 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2275G>A; p.G759S; 13:20690710-20690710 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2485G>T; p.D829Y; 13:20691158-20691158 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1682C>T; p.A561V; 13:20641371-20641371 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708G>A; p.K236K; 13:20598737-20598737 |
breast | carcinoma | Substitution - coding silent |
c.989G>A; p.R330Q; 13:20601854-20601854 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.989G>A; p.R330Q; 13:20601854-20601854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.569A>T; p.Q190L; 13:20597067-20597067 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1335G>T; p.E445D; 13:20631024-20631024 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1439G>A; p.S480N; 13:20638357-20638357 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1967C>A; p.S656Y; 13:20644949-20644949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1439G>A; p.S480N; 13:20638357-20638357 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1654A>G; p.K552E; 13:20641343-20641343 |
skin | malignant_melanoma | Substitution - Missense |
c.517G>T; p.A173S; 13:20597015-20597015 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.724G>T; p.G242*; 13:20598753-20598753 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.114C>T; p.I38I; 13:20574472-20574472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2026A>C; p.S676R; 13:20653925-20653925 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.640A>G; p.S214G; 13:20598669-20598669 |
breast | carcinoma | Substitution - Missense |
c.1714G>A; p.E572K; 13:20643459-20643459 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.463A>C; p.N155H; 13:20596187-20596187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.421G>C; p.D141H; 13:20592400-20592400 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.712T>C; p.F238L; 13:20598741-20598741 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2038C>G; p.Q680E; 13:20656373-20656373 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.190A>G; p.K64E; 13:20589820-20589820 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.115G>A; p.E39K; 13:20574473-20574473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404T>A; p.L135*; 13:20592383-20592383 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.1031C>T; p.P344L; 13:20601896-20601896 |
skin | malignant_melanoma | Substitution - Missense |
c.1020G>C; p.L340F; 13:20601885-20601885 |
breast | carcinoma | Substitution - Missense |
c.1537G>A; p.A513T; 13:20638455-20638455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.574G>A; p.E192K; 13:20597072-20597072 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1673G>A; p.R558Q; 13:20641362-20641362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405G>A; p.G802D; 13:20691078-20691078 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.401C>T; p.P134L; 13:20592380-20592380 |
skin | malignant_melanoma | Substitution - Missense |
c.1205C>A; p.S402Y; 13:20615858-20615858 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.504A>T; p.G168G; 13:20596228-20596228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1058T>G; p.I353S; 13:20601923-20601923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1786C>A; p.Q596K; 13:20643531-20643531 |
prostate | adenoma | Substitution - Missense |
c.817C>G; p.P273A; 13:20599543-20599543 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1637C>G; p.A546G; 13:20641326-20641326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>A; p.V218I; 13:20598681-20598681 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.180+8delA; p.?; 13:20583027-20583027 |
stomach | adenocarcinoma | Unknown |
c.1722G>A; p.M574I; 13:20643467-20643467 |
breast | carcinoma | Substitution - Missense |
c.178C>T; p.P60S; 13:20583017-20583017 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2480G>A; p.G827E; 13:20691153-20691153 |
skin | malignant_melanoma | Substitution - Missense |
c.1819C>T; p.R607C; 13:20643564-20643564 |
skin | malignant_melanoma | Substitution - Missense |
c.797G>A; p.R266Q; 13:20599523-20599523 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>C; p.L135L; 13:20592382-20592382 |
thyroid | other; neoplasm | Substitution - coding silent |
c.589C>T; p.P197S; 13:20597087-20597087 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.255A>C; p.A85A; 13:20590984-20590984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.262A>G; p.I88V; 13:20590991-20590991 |
pancreas | carcinoma | Substitution - Missense |
c.1323C>T; p.N441N; 13:20625846-20625846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1473T>C; p.Y491Y; 13:20638391-20638391 |
prostate | carcinoma | Substitution - coding silent |
c.768A>C; p.R256S; 13:20599494-20599494 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1149G>A; p.M383I; 13:20615802-20615802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.136G>T; p.A46S; 13:20582975-20582975 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.661A>G; p.M221V; 13:20598690-20598690 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2467G>C; p.D823H; 13:20691140-20691140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1965T>G; p.A655A; 13:20644947-20644947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2038C>A; p.Q680K; 13:20656373-20656373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2038C>A; p.Q680K; 13:20656373-20656373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2229_2230insG; p.S746fs*10; 13:20670999-20671000 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1662C>T; p.H554H; 13:20641351-20641351 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.426-1_426insT; p.E144fs*13; 13:20596149-20596150 |
breast | carcinoma | Unknown |
c.931G>A; p.A311T; 13:20601796-20601796 |
prostate | carcinoma | Substitution - Missense |
c.475G>A; p.E159K; 13:20596199-20596199 |
breast | carcinoma | Substitution - Missense |
c.1562G>T; p.R521I; 13:20638480-20638480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1182C>G; p.L394L; 13:20615835-20615835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1294G>C; p.V432L; 13:20625817-20625817 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.88A>G; p.N30D; 13:20574446-20574446 |
liver | carcinoma | Substitution - Missense |
c.392C>T; p.P131L; 13:20592371-20592371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302C>G; p.Y434*; 13:20625825-20625825 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.398C>T; p.S133F; 13:20592377-20592377 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.976G>A; p.A326T; 13:20601841-20601841 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1789G>T; p.V597F; 13:20643534-20643534 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188G>T; p.E730*; 13:20663590-20663590 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2470G>T; p.E824*; 13:20691143-20691143 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1384G>T; p.A462S; 13:20631073-20631073 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2192T>C; p.I731T; 13:20663594-20663594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1187C>T; p.A396V; 13:20615840-20615840 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.43C>T; p.H15Y; 13:20574401-20574401 |
liver | carcinoma | Substitution - Missense |
c.2160A>C; p.R720S; 13:20663562-20663562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1930T>A; p.F644I; 13:20644912-20644912 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1063_1064CC>TT; p.P355L; 13:20601928-20601929 |
skin | malignant_melanoma | Substitution - Missense |
c.942G>A; p.L314L; 13:20601807-20601807 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1352delA; p.K453fs*5; 13:20631041-20631041 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1005G>C; p.K335N; 13:20601870-20601870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2102G>A; p.R701H; 13:20663504-20663504 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.26A>T; p.Q9L; 13:20574384-20574384 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434delA; p.I147fs*1; 13:20596158-20596158 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1104delA; p.N370fs*20; 13:20605070-20605070 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.901A>G; p.I301V; 13:20601766-20601766 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.225T>C; p.A75A; 13:20589855-20589855 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1118T>C; p.L373P; 13:20605084-20605084 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1465G>C; p.D489H; 13:20638383-20638383 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.630C>T; p.F210F; 13:20598659-20598659 |
skin | malignant_melanoma | Substitution - coding silent |
c.557T>A; p.V186D; 13:20597055-20597055 |
liver | carcinoma | Substitution - Missense |
c.767G>T; p.R256I; 13:20599493-20599493 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.767G>T; p.R256I; 13:20599493-20599493 |
breast | carcinoma | Substitution - Missense |
c.767G>T; p.R256I; 13:20599493-20599493 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.95A>G; p.Y32C; 13:20574453-20574453 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>G; p.K139E; 13:20592394-20592394 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.117G>T; p.E39D; 13:20574475-20574475 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1187C>A; p.A396D; 13:20615840-20615840 |
pancreas | carcinoma | Substitution - Missense |
c.372C>T; p.P124P; 13:20592351-20592351 |
skin | malignant_melanoma | Substitution - coding silent |
c.2290G>A; p.A764T; 13:20690725-20690725 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2246A>C; p.K749T; 13:20671016-20671016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1366A>G; p.R456G; 13:20631055-20631055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.886C>T; p.Q296*; 13:20601751-20601751 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2113C>T; p.R705C; 13:20663515-20663515 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2039A>G; p.Q680R; 13:20656374-20656374 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2113C>T; p.R705C; 13:20663515-20663515 |
skin | malignant_melanoma | Substitution - Missense |
c.2113C>T; p.R705C; 13:20663515-20663515 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2113C>T; p.R705C; 13:20663515-20663515 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.645G>C; p.Q215H; 13:20598674-20598674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299A>G; p.T433T; 13:20625822-20625822 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.433G>A; p.E145K; 13:20596157-20596157 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876C>T; p.P626S; 13:20644858-20644858 |
skin | malignant_melanoma | Substitution - Missense |
c.243G>T; p.K81N; 13:20590972-20590972 |
breast | carcinoma | Substitution - Missense |
c.1797T>A; p.S599S; 13:20643542-20643542 |
skin | malignant_melanoma | Substitution - coding silent |
c.2448C>A; p.I816I; 13:20691121-20691121 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2448C>A; p.I816I; 13:20691121-20691121 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1835C>G; p.S612C; 13:20643580-20643580 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |