FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:MCC-PPAP2A (FusionGDB2 ID:51828)

Fusion Gene Summary for MCC-PPAP2A

check button Fusion gene summary
Fusion gene informationFusion gene name: MCC-PPAP2A
Fusion gene ID: 51828
HgeneTgene
Gene symbol

MCC

PPAP2A

Gene ID

4163

8611

Gene nameMCC regulator of WNT signaling pathwayphospholipid phosphatase 1
SynonymsMCC1LLP1a|LPP1|PAP-2a|PAP2|PPAP2A
Cytomap

5q22.2

5q11.2

Type of geneprotein-codingprotein-coding
Descriptioncolorectal mutant cancer proteinMCC, WNT signaling pathway regulatormutated in colorectal cancersphospholipid phosphatase 1lipid phosphate phosphohydrolase 1aphosphatidate phosphohydrolase type 2aphosphatidic acid phosphatase 2aphosphatidic acid phosphatase type 2Aphosphatidic acid phosphohydrolase type 2atype-2 phosphatidic acid phosphatase al
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000302475, ENST00000514701, 
ENST00000515367, ENST00000408903, 
ENST00000264775, ENST00000307259, 
ENST00000515132, 
Fusion gene scores* DoF score11 X 8 X 5=44010 X 5 X 6=300
# samples 1210
** MAII scorelog2(12/440*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/300*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCC [Title/Abstract] AND PPAP2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMCC(112630026)-PPAP2A(54763977), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMCC

GO:0045184

establishment of protein localization

18591935

HgeneMCC

GO:0050680

negative regulation of epithelial cell proliferation

18591935

HgeneMCC

GO:0090090

negative regulation of canonical Wnt signaling pathway

18591935

TgenePPAP2A

GO:0006644

phospholipid metabolic process

9305923|9705349|15461590

TgenePPAP2A

GO:0006670

sphingosine metabolic process

9705349

TgenePPAP2A

GO:0006672

ceramide metabolic process

9305923|9705349

TgenePPAP2A

GO:0046839

phospholipid dephosphorylation

9305923|9705349|15461590|16464866


check buttonFusion gene breakpoints across MCC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PPAP2A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerERR315482MCCchr5

112630026

-PPAP2Achr5

54763977

-


Top

Fusion Gene ORF analysis for MCC-PPAP2A

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000302475ENST00000264775MCCchr5

112630026

-PPAP2Achr5

54763977

-
In-frameENST00000302475ENST00000307259MCCchr5

112630026

-PPAP2Achr5

54763977

-
5CDS-5UTRENST00000302475ENST00000515132MCCchr5

112630026

-PPAP2Achr5

54763977

-
5UTR-3CDSENST00000514701ENST00000264775MCCchr5

112630026

-PPAP2Achr5

54763977

-
5UTR-3CDSENST00000514701ENST00000307259MCCchr5

112630026

-PPAP2Achr5

54763977

-
5UTR-5UTRENST00000514701ENST00000515132MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-3CDSENST00000515367ENST00000264775MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-3CDSENST00000515367ENST00000307259MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-5UTRENST00000515367ENST00000515132MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-3CDSENST00000408903ENST00000264775MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-3CDSENST00000408903ENST00000307259MCCchr5

112630026

-PPAP2Achr5

54763977

-
intron-5UTRENST00000408903ENST00000515132MCCchr5

112630026

-PPAP2Achr5

54763977

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000302475MCCchr5112630026-ENST00000264775PPAP2Achr554763977-16186215641265233
ENST00000302475MCCchr5112630026-ENST00000307259PPAP2Achr554763977-15876215641265233

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000302475ENST00000264775MCCchr5112630026-PPAP2Achr554763977-0.0056751170.99432486
ENST00000302475ENST00000307259MCCchr5112630026-PPAP2Achr554763977-0.0059209380.9940791

Top

Fusion Genomic Features for MCC-PPAP2A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for MCC-PPAP2A


check button Go to

FGviewer for the breakpoints of chr5:112630026-chr5:54763977

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516120_12871.0286.0RegionPhosphatase sequence motif I
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516168_17171.0286.0RegionPhosphatase sequence motif II
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516216_22771.0286.0RegionPhosphatase sequence motif III
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916120_12870.0285.0RegionPhosphatase sequence motif I
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916168_17170.0285.0RegionPhosphatase sequence motif II
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916216_22770.0285.0RegionPhosphatase sequence motif III
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516116_16471.0286.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516186_19971.0286.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516221_22971.0286.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516251_28471.0286.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST000002647751675_9471.0286.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916116_16470.0285.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916186_19970.0285.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916221_22970.0285.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916251_28470.0285.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST000003072591675_9470.0285.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516165_18571.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516200_22071.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST0000026477516230_25071.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST000002647751695_11571.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916165_18570.0285.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916200_22070.0285.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST0000030725916230_25070.0285.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST000003072591695_11570.0285.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMCCchr5:112630026chr5:54763977ENST00000302475-117766_78219.0830.0MotifNuclear localization signal
HgeneMCCchr5:112630026chr5:54763977ENST00000302475-117826_82919.0830.0MotifNote=PDZ-binding
HgeneMCCchr5:112630026chr5:54763977ENST00000408903-119766_78201020.0MotifNuclear localization signal
HgeneMCCchr5:112630026chr5:54763977ENST00000408903-119826_82901020.0MotifNote=PDZ-binding
TgenePPAP2Achr5:112630026chr5:54763977ENST00000264775165_771.0286.0MotifPDZ-binding%3B involved in localization to the apical cell membrane
TgenePPAP2Achr5:112630026chr5:54763977ENST00000307259165_770.0285.0MotifPDZ-binding%3B involved in localization to the apical cell membrane
TgenePPAP2Achr5:112630026chr5:54763977ENST00000264775161_671.0286.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST000002647751628_5371.0286.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST00000307259161_670.0285.0Topological domainCytoplasmic
TgenePPAP2Achr5:112630026chr5:54763977ENST000003072591628_5370.0285.0Topological domainExtracellular
TgenePPAP2Achr5:112630026chr5:54763977ENST000002647751654_7471.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST00000264775167_2771.0286.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST000003072591654_7470.0285.0TransmembraneHelical
TgenePPAP2Achr5:112630026chr5:54763977ENST00000307259167_2770.0285.0TransmembraneHelical


Top

Fusion Gene Sequence for MCC-PPAP2A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000302475_ENST00000264775_ERR315482_MCC_chr5_112630026_-_PPAP2A_chr5_54763977_length(transcript)=1618nt_BP=621nt
AGAAACCACTTACAACTCCAGACGATTCGAAGGGGAAACTTCGGCGTGAAGTGCAGCTCCGCTCCGGCTCCCTCTAGCTTTCTTTCCTTC
TCTGGAATCCGAGGCGCGGATCTTCCTCGCCCCACCGCCCTAGTTTTTTCGGGAGCTCGCCGGTGCCCTCTAGGGTGTCGGCTCGTGCTG
GGAAGTGCCCTCCATCCTGGTAATGGGGGGCGGCGAGGCACCGTAGGAGTGGCGAGGCGGCGCCCAGGGTGGCACTGCCCCGGAACGGGG
CGCTGGGTGCGCGCGGGAGGGTCCCCGCGCGGGCTCCGCCGCTGCCGCAGCTGCGAGCGCGCCGCGCCACCGAGCCTCCTGCAGCAATGG
CTCGTCCGTGAAACGCGAGCCACGGCTGCTCTTTTTAAGAGTGCCTGCATCCTCCGTTTGCGCTTCGCAACTGTCCTGGGTGAAAATGGC
TGTCTAGACTAAAATGTGGCAGAAGGGACCAAGCAGTGGATATTGAGCCTGTGAAGTCCAACTCTTAAGCTCCGAGACCTGGGGGACTGA
GAGCCCAGCTCTGAAAAGTGCATCATGAATTCCGGAGTTGCCATGAAATATGGAAACGACTCCTCGGCCGAGCTGAGTGAGATTATTCTT
GGAGAAACCCTGTCTGTTTACTGTAACCTTTTGCACTCAAATTCCTTTATCAGGAATAACTACATAGCCACTATTTACAAAGCCATTGGA
ACCTTTTTATTTGGTGCAGCTGCTAGTCAGTCCCTGACTGACATTGCCAAGTATTCAATAGGCAGACTGCGGCCTCACTTCTTGGATGTT
TGTGATCCAGATTGGTCAAAAATCAACTGCAGCGATGGTTACATTGAATACTACATATGTCGAGGGAATGCAGAAAGAGTTAAGGAAGGC
AGGTTGTCCTTCTATTCAGGCCACTCTTCGTTTTCCATGTACTGCATGCTGTTTGTGGCACTTTATCTTCAAGCCAGGATGAAGGGAGAC
TGGGCAAGACTCTTACGCCCCACACTGCAATTTGGTCTTGTTGCCGTATCCATTTATGTGGGCCTTTCTCGAGTTTCTGATTATAAACAC
CACTGGAGCGATGTGTTGACTGGACTCATTCAGGGAGCTCTGGTTGCAATATTAGTTGCTGTATATGTATCGGATTTCTTCAAAGAAAGA
ACTTCTTTTAAAGAAAGAAAAGAGGAGGACTCTCATACAACTCTGCATGAAACACCAACAACTGGGAATCACTATCCGAGCAATCACCAG
CCTTGAAAGGCAGCAGGGTGCCCAGGTGAAGCTGGCCTGTTTTCTAAAGGAAAATGATTGCCACAAGGCAAGAGGATGCATCTTTCTTCC
TGGTGTACAAGCCTTTAAAGACTTCTGCTGCTGCTATGCCTCTTGGATGCACACTTTGTGTGTACATAGTTACCTTTAACTCAGTGGTTA
TCTAATAGCTCTAAACTCATTAAAAAAACTCCAAGCCTTCCACCAAAACAGTGCCCCACCTGTATACATTTTTATTAAAAAAATGTAATG

>In-frame_ENST00000302475_ENST00000264775_ERR315482_MCC_chr5_112630026_-_PPAP2A_chr5_54763977_length(amino acids)=233AA_start in transcript=564_stop in transcript=1265
MNSGVAMKYGNDSSAELSEIILGETLSVYCNLLHSNSFIRNNYIATIYKAIGTFLFGAAASQSLTDIAKYSIGRLRPHFLDVCDPDWSKI
NCSDGYIEYYICRGNAERVKEGRLSFYSGHSSFSMYCMLFVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTG

--------------------------------------------------------------
>In-frame_ENST00000302475_ENST00000307259_ERR315482_MCC_chr5_112630026_-_PPAP2A_chr5_54763977_length(transcript)=1587nt_BP=621nt
AGAAACCACTTACAACTCCAGACGATTCGAAGGGGAAACTTCGGCGTGAAGTGCAGCTCCGCTCCGGCTCCCTCTAGCTTTCTTTCCTTC
TCTGGAATCCGAGGCGCGGATCTTCCTCGCCCCACCGCCCTAGTTTTTTCGGGAGCTCGCCGGTGCCCTCTAGGGTGTCGGCTCGTGCTG
GGAAGTGCCCTCCATCCTGGTAATGGGGGGCGGCGAGGCACCGTAGGAGTGGCGAGGCGGCGCCCAGGGTGGCACTGCCCCGGAACGGGG
CGCTGGGTGCGCGCGGGAGGGTCCCCGCGCGGGCTCCGCCGCTGCCGCAGCTGCGAGCGCGCCGCGCCACCGAGCCTCCTGCAGCAATGG
CTCGTCCGTGAAACGCGAGCCACGGCTGCTCTTTTTAAGAGTGCCTGCATCCTCCGTTTGCGCTTCGCAACTGTCCTGGGTGAAAATGGC
TGTCTAGACTAAAATGTGGCAGAAGGGACCAAGCAGTGGATATTGAGCCTGTGAAGTCCAACTCTTAAGCTCCGAGACCTGGGGGACTGA
GAGCCCAGCTCTGAAAAGTGCATCATGAATTCCGGAGTTGCCATGAAATATGGAAACGACTCCTCGGCCGAGCTGAGTGAGATTATTCTT
GGAGAAACCCTGTCTGTTTACTGTAACCTTTTGCACTCAAATTCCTTTATCAGGAATAACTACATAGCCACTATTTACAAAGCCATTGGA
ACCTTTTTATTTGGTGCAGCTGCTAGTCAGTCCCTGACTGACATTGCCAAGTATTCAATAGGCAGACTGCGGCCTCACTTCTTGGATGTT
TGTGATCCAGATTGGTCAAAAATCAACTGCAGCGATGGTTACATTGAATACTACATATGTCGAGGGAATGCAGAAAGAGTTAAGGAAGGC
AGGTTGTCCTTCTATTCAGGCCACTCTTCGTTTTCCATGTACTGCATGCTGTTTGTGGCACTTTATCTTCAAGCCAGGATGAAGGGAGAC
TGGGCAAGACTCTTACGCCCCACACTGCAATTTGGTCTTGTTGCCGTATCCATTTATGTGGGCCTTTCTCGAGTTTCTGATTATAAACAC
CACTGGAGCGATGTGTTGACTGGACTCATTCAGGGAGCTCTGGTTGCAATATTAGTTGCTGTATATGTATCGGATTTCTTCAAAGAAAGA
ACTTCTTTTAAAGAAAGAAAAGAGGAGGACTCTCATACAACTCTGCATGAAACACCAACAACTGGGAATCACTATCCGAGCAATCACCAG
CCTTGAAAGGCAGCAGGGTGCCCAGGTGAAGCTGGCCTGTTTTCTAAAGGAAAATGATTGCCACAAGGCAAGAGGATGCATCTTTCTTCC
TGGTGTACAAGCCTTTAAAGACTTCTGCTGCTGCTATGCCTCTTGGATGCACACTTTGTGTGTACATAGTTACCTTTAACTCAGTGGTTA
TCTAATAGCTCTAAACTCATTAAAAAAACTCCAAGCCTTCCACCAAAACAGTGCCCCACCTGTATACATTTTTATTAAAAAAATGTAATG

>In-frame_ENST00000302475_ENST00000307259_ERR315482_MCC_chr5_112630026_-_PPAP2A_chr5_54763977_length(amino acids)=233AA_start in transcript=564_stop in transcript=1265
MNSGVAMKYGNDSSAELSEIILGETLSVYCNLLHSNSFIRNNYIATIYKAIGTFLFGAAASQSLTDIAKYSIGRLRPHFLDVCDPDWSKI
NCSDGYIEYYICRGNAERVKEGRLSFYSGHSSFSMYCMLFVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTG

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for MCC-PPAP2A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for MCC-PPAP2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for MCC-PPAP2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCCC0004352Autistic Disorder1CTD_human
HgeneMCCC0007113Rectal Carcinoma1CTD_human
HgeneMCCC0020796Profound Mental Retardation1CTD_human
HgeneMCCC0025363Mental Retardation, Psychosocial1CTD_human
HgeneMCCC0032580Adenomatous Polyposis Coli1CTD_human
HgeneMCCC0034885Rectal Neoplasms1CTD_human
HgeneMCCC0917816Mental deficiency1CTD_human
HgeneMCCC2713442Polyposis, Adenomatous Intestinal1CTD_human
HgeneMCCC2713443Familial Intestinal Polyposis1CTD_human
HgeneMCCC3714756Intellectual Disability1CTD_human