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- Data Summary
Gene Report
Approved Symbol | APC |
---|---|
Symbol Alias | DP2, DP3, DP2.5 |
Approved Name | adenomatous polyposis coli |
Previous Name | adenomatosis polyposis coli |
Location | 5q21-q22 |
Position | chr5:112043195-112203279, + |
External Links |
HGNC: 583 Entrez Gene: 324 UCSC: uc003kpy.3 |
No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
Source | Mapped by LD-proxy; Mapped by PBA pathway |
Literature-origin SNPs (count: 0)
LD-proxies (count: 33)
rs_ID | Location | Functional Annotation |
---|---|---|
rs565453 | Chr5:112185393(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs481789 | Chr5:112186064(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs411356 | Chr5:112172219(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs2439591 | Chr5:112089480(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs2464805 | Chr5:112101793(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs580237 | Chr5:112194032(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs2431238 | Chr5:112124369(Fwd) | NMD_transcript_variant; intron_variant |
rs2545169 | Chr5:112149757(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs2909958 | Chr5:112167941(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs2909786 | Chr5:112168065(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs2909787 | Chr5:112168130(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs368575 | Chr5:112204896(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs2545162 | Chr5:112158431(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs464708 | Chr5:112154303(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs463229 | Chr5:112201284(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs7213 | Chr5:112203564(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs351769 | Chr5:112199974(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs495794 | Chr5:112201094(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs351770 | Chr5:112199199(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs372492 | Chr5:112198015(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs431287 | Chr5:112197986(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs712668 | Chr5:112197637(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs429427 | Chr5:112194693(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs434157 | Chr5:112191642(Fwd) | NMD_transcript_variant; intron_variant |
rs497844 | Chr5:112185491(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs465899 | Chr5:112177171(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant |
rs866006 | Chr5:112176559(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant |
rs42427 | Chr5:112176325(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant |
rs41115 | Chr5:112175770(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; synonymous_variant |
rs351771 | Chr5:112164561(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant |
rs501250 | Chr5:112155793(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2545165 | Chr5:112153119(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs2952615 | Chr5:112138888(Fwd) | NMD_transcript_variant; intron_variant |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 2)
ID | Name | Type | Evidence[PMID] | No. of Genes in ADHDgene |
---|---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | Biological Process | 39 | |
GO:0051493 | regulation of cytoskeleton organization | Biological Process | 32 |
GO terms by database search (count: 71)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa05210 | Colorectal cancer | 11 | Colorectal cancer (CRC) is the second largest cause of cance...... Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in sporadic CRC progression. The first, known as chromosomal instability (CIN), results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch repair genes MLH1 and/or MSH2 by hypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour suppressor gene APC on chromosome 5q in FAP, mutated DNA mismatch repair genes in HNPCC). More... |
hsa05213 | Endometrial cancer | 12 | Endometrial cancer (EC) is the most common gynaecological ma...... Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification. More... |
hsa05217 | Basal cell carcinoma | 8 | Cancer of the skin is the most common cancer in Caucasians a...... Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC. More... |
hsa04810 | Regulation of actin cytoskeleton | 48 | |
hsa04310 | Wnt signaling pathway | 22 | Wnt proteins are secreted morphogens that are required for b...... Wnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, in many different species and organs. There are at least three different Wnt pathways: the canonical pathway, the planar cell polarity (PCP) pathway and the Wnt/Ca2+ pathway. In the canonical Wnt pathway, the major effect of Wnt ligand binding to its receptor is the stabilization of cytoplasmic beta-catenin through inhibition of the bea-catenin degradation complex. Beta-catenin is then free to enter the nucleus and activate Wnt-regulated genes through its interaction with TCF (T-cell factor) family transcription factors and concomitant recruitment of coactivators. Planar cell polarity (PCP) signaling leads to the activation of the small GTPases RHOA (RAS homologue gene-family member A) and RAC1, which activate the stress kinase JNK (Jun N-terminal kinase) and ROCK (RHO-associated coiled-coil-containing protein kinase 1) and leads to remodelling of the cytoskeleton and changes in cell adhesion and motility. WNT-Ca2+ signalling is mediated through G proteins and phospholipases and leads to transient increases in cytoplasmic free calcium that subsequently activate the kinase PKC (protein kinase C) and CAMKII (calcium calmodulin mediated kinase II) and the phosphatase calcineurin. More... |
hsa05200 | Pathways in cancer | 52 |
Region: chr5:112043195..112203279 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014