| Name | adenomatosis polyposis coli |
| Symbol | APC |
| Aliases | GS; DP2; DP3; FAP; FPC; DP2.5 |
| Gene Product | - adenomatosis polyposis coli
|
| Category | - Methylation in Prostate cancer
- Mutation in Prostate cancer
|
| UniGene | Hs.75081 |
| OMIM | 175100 |
| Locus | 324 |
| Summary | The metabolic function of the APC gene is not known. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. |
| Gene Ontology | |
| Expression | | EST (227 ESTs, 90 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (4/27) |  | 5/40686 |
| bone (1/13) | | 2/26211 |
| bone marrow (2/263) | | 2/38555 |
| brain (12/204) | | 73/362011 |
| cartilage (1/5) | | 1/11018 |
| cervix (1/7) | | 1/28115 |
| colon (4/853) | | 4/165626 |
| ear (1/2) | | 2/12660 |
| embryo (1/19) | | 7/37976 |
| eye (2/33) | | 6/93836 |
| foreskin (1/4) | | 5/20040 |
| germ cell (1/7) | | 1/57383 |
| head and neck (2/990) | | 3/79796 |
| heart (2/22) | | 3/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (2/86) | | 3/132968 |
| liver (1/38) | | 1/46472 |
| lung (5/312) | | 5/245386 |
| muscle (2/21) | | 6/71297 |
| nervous (5/475) | | 8/43438 |
| oral cavity (1/18) | | 5/44567 |
| ovary (2/144) | | 3/81880 |
| pancreas (1/33) | | 1/117255 |
| placenta (2/342) | | 3/157762 |
| skin (1/31) | | 2/100815 |
| testis (5/171) | | 22/117531 |
| uncharacterized tissue (21/1773) | | 42/713325 |
| uterus (4/212) | | 7/155110 |
|
| SAGE (13062749 tags, 246 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 4/145569 |
| brain (18/19) | | 203/2866610 |
| cerebellum (1/1) | | 6/256400 |
| colon (8/8) | | 88/1260636 |
| eye (4/6) | | 24/1490641 |
| foreskin (2/2) | | 2/19256 |
| heart (1/1) | | 1/84357 |
| kidney (2/2) | | 9/189727 |
| lung (1/1) | | 4/178286 |
| mammary gland (15/19) | | 145/1025313 |
| muscle (2/2) | | 3/161581 |
| ovary (9/10) | | 49/883482 |
| pancreas (8/8) | | 51/385838 |
| prostate (13/13) |  | 125/938410 |
| skin (1/7) | | 1/12817 |
| stomach (2/3) | | 6/409395 |
| uncharacterized tissue (18/22) | | 168/2380929 |
| vascular (3/3) | | 15/373502 |
|
|
| SNP | rs377860 (G/T:coding-nonsyn); rs2253987 (C/T:intron); rs918397 (A/C:intron); rs458492 (A/G:intron); rs391816 (A/C:locus-region); rs2952615 (T/C:intron); rs1882619 (C/T:locus-region); rs1697914 (T/C:locus-region); rs459552 (A/T:coding-nonsyn); rs464338 (C/G:locus-region); rs2909958 (A/G:intron); rs548710 (T/C:intron); rs392907 (G/A:intron); rs395266 (T/C:intron); rs1804197 (A/C:mrna-utr); rs1801155 (G/C:coding-nonsyn); rs42427 (A/G:coding-nonsyn); rs1966476 (A/C:intron); rs2546106 (T/A:intron); rs544243 (T/G:intron); rs464002 (A/G:locus-region); rs2545169 (G/A:intron); rs551052 (G/A:intron); rs2901844 (A/G:intron); rs2652288 (T/C:coding-nonsyn); rs2416295 (A/G:intron); rs1816769 (C/G:intron); rs376845 (C/A:locus-region); rs2439589 (C/T:intron); rs1616230 (A/G:locus-region); rs415045 (A/T:locus-region); rs861674 (T/A:locus-region); rs1974786 (C/G:locus-region); rs1807226 (C/T:intron); rs569940 (T/C:intron); rs2707761 (C/G:intron); rs2229993 (C/G:coding-nonsyn); rs2464801 (T/C:locus-region); rs399574 (A/C:intron); rs448475 (C/G:mrna-utr); rs1109248 (A/T:intron); rs458906 (G/C:intron); rs396321 (C/T:intron); rs414362 (C/T:locus-region); rs419537 (C/T:locus-region); rs1734242 (C/G:locus-region); rs2545154 (A/G:intron); rs469336 (G/C:locus-region); rs1644239 (A/G:locus-region); rs1803556 (G/T:coding-nonsyn); rs454886 (C/T:intron); rs1661032 (T/C:locus-region); rs401908 (T/C:intron); rs2431238 (A/G:intron); rs436108 (A/C:intron); rs2455294 (G/A:locus-region); rs2304792 (A/G:intron); rs464708 (G/T:intron); rs414098 (A/G:intron); rs511906 (T/C:intron); rs1465910 (A/G:locus-region); rs380589 (T/C:intron); rs817584 (T/C:locus-region); rs467033 (T/A:intron); rs563556 (G/C:intron); rs866006 (A/C:coding-nonsyn); rs2112210 (A/G:locus-region); rs1049291 (C/T:locus-region); rs1822163 (C/T:locus-region); rs460197 (A/C:intron); rs1441375 (A/G:locus-region); rs389657 (A/G:intron); rs458967 (C/T:intron); rs2019720 (A/G:locus-region); rs397768 (G/A:mrna-utr); rs411356 (T/C:intron); rs517947 (A/C:intron); rs390092 (A/C:intron); rs1914 (A/T:intron); rs468293 (T/G:locus-region); rs2431505 (T/C:intron); rs2909784 (C/G:intron); rs1922663 (C/T:locus-region); rs392179 (A/G:intron); rs2251913 (A/G:intron); rs2546116 (T/A:intron); rs375377 (T/C:locus-region); rs501250 (C/G:intron); rs2545158 (A/G:intron); rs466901 (C/T:intron); rs1613148 (A/G:intron); rs366913 (T/C:intron); rs465687 (T/C:intron); rs351771 (G/A:intron); rs369952 (G/A:intron); rs41115 (C/T:mrna-utr); rs2289484 (T/G:intron); rs465899 (T/C:coding-nonsyn); rs3068629 (TCTG/-:intron); rs2020383 (C/T:locus-region); |
| Evidence | Methylation in Prostate cancer
Mutation in Prostate cancer
|
