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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6382

FusionGeneSummary for CDC42_ALPL

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42_ALPL
Fusion gene ID: 6382
HgeneTgene
Gene symbol

CDC42

ALPL

Gene ID

998

249

Gene namecell division cycle 42alkaline phosphatase, liver/bone/kidney
SynonymsCDC42Hs|G25K|TKSAP-TNAP|APTNAP|HOPS|TNALP|TNAP|TNSALP
Cytomap

1p36.12

1p36.12

Type of geneprotein-codingprotein-coding
Descriptioncell division control protein 42 homologG25K GTP-binding proteinGTP binding protein, 25kDadJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD))dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD))growth-regulating proteinsmall alkaline phosphatase, tissue-nonspecific isozymealkaline phosphatase liver/bone/kidney isozymeliver/bone/kidney-type alkaline phosphatasetissue non-specific alkaline phosphatasetissue-nonspecific ALP
Modification date2018052620180522
UniProtAcc

P60953

P05186

Ensembl transtripts involved in fusion geneENST00000400259, ENST00000344548, 
ENST00000315554, ENST00000498236, 
ENST00000421089, 
ENST00000539907, 
ENST00000540617, ENST00000374840, 
ENST00000468526, ENST00000374832, 
ENST00000425315, ENST00000374830, 
ENST00000374829, 
Fusion gene scores* DoF score6 X 5 X 3=903 X 1 X 3=9
# samples 63
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDC42 [Title/Abstract] AND ALPL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCDC42

GO:0030036

actin cytoskeleton organization

11035016

HgeneCDC42

GO:0031274

positive regulation of pseudopodium assembly

11035016

HgeneCDC42

GO:0051489

regulation of filopodium assembly

14978216

HgeneCDC42

GO:1900026

positive regulation of substrate adhesion-dependent cell spreading

11807099


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-DA-A1HW-06ACDC42chr1

22379235

+ALPLchr1

21880471

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-intronENST00000400259ENST00000539907CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000400259ENST00000540617CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000400259ENST00000374840CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000400259ENST00000468526CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000400259ENST00000374832CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000400259ENST00000425315CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000400259ENST00000374830CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000400259ENST00000374829CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000539907CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000540617CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000344548ENST00000374840CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000468526CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000344548ENST00000374832CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000425315CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000374830CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000344548ENST00000374829CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000539907CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000540617CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000315554ENST00000374840CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000468526CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000315554ENST00000374832CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000425315CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000374830CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000315554ENST00000374829CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000539907CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000540617CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-5UTRENST00000498236ENST00000374840CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000468526CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-5UTRENST00000498236ENST00000374832CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000425315CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000374830CDC42chr1

22379235

+ALPLchr1

21880471

+
3UTR-intronENST00000498236ENST00000374829CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000539907CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000540617CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000421089ENST00000374840CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000468526CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-5UTRENST00000421089ENST00000374832CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000425315CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000374830CDC42chr1

22379235

+ALPLchr1

21880471

+
5UTR-intronENST00000421089ENST00000374829CDC42chr1

22379235

+ALPLchr1

21880471

+

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FusionProtFeatures for CDC42_ALPL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42

P60953

ALPL

P05186

Plasma membrane-associated small GTPase which cyclesbetween an active GTP-bound and an inactive GDP-bound state. Inactive state binds to a variety of effector proteins to regulatecellular responses. Involved in epithelial cell polarizationprocesses. Regulates the bipolar attachment of spindlemicrotubules to kinetochores before chromosome congression inmetaphase. Plays a role in the extension and maintenance of theformation of thin, actin-rich surface projections calledfilopodia. Mediates CDC42-dependent cell migration. Required forDOCK10-mediated spine formation in Purkinje cells and hippocampalneurons. Facilitates filopodia formation upon DOCK11-activation(By similarity). Also plays a role in phagocytosis throughorganization of the F-actin cytoskeleton associated with formingphagocytic cups. {ECO:0000250|UniProtKB:P60766,ECO:0000269|PubMed:14978216, ECO:0000269|PubMed:15642749,ECO:0000269|PubMed:17038317, ECO:0000269|PubMed:26465210}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CDC42_ALPL


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CDC42_ALPL


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
CDC42DOCK8, TRIP10, CDC42EP1, ARHGDIA, PAK4, FNBP1L, CDC42BPG, ARHGAP27, DEF6, MCF2L, ARHGAP32, PAK1, KAT5, C14orf1, PDE6D, UBR1, LRIF1, TP53, EEF1G, UNC119, BNIP2, CDC42EP3, BAIAP2, PAK2, VAV1, MAP3K10, ARHGAP1, MAP3K11, CDC42SE1, CDC42SE2, CDC42, CSPG4, IQGAP2, NCF2, MAP3K4, GDI1, TNK2, PAK7, ERRFI1, PAK6, ARHGAP26, ARHGAP10, ARHGAP17, ARHGAP44, IQGAP1, PARD6A, PARD6B, OPHN1, CLIP1, WAS, WASL, MCF2, DOCK9, CDC42EP5, CDC42EP2, PLEKHG2, ARHGDIG, PARD6G, FGD1, ARHGEF25, PLD1, ITSN1, BCR, ARRB1, ARRB2, CSN2, DIAPH2, COX1, MYO6, MYO9A, PAK3, RAP1GDS1, RPL22, S100A9, ST13, UBC, VRK2, ZNF175, CDC42BPA, MCM3AP, HERC2, RPL23, CDC42BPB, ARHGEF11, SYNE1, CDC42EP4, FMNL2, SH3D19, KIAA2026, MUC12, CBL, ARHGEF7, TNF, CBLL1, CDH1, MARK4, A2M, AHSG, APOH, CPN1, ETFA, CFHR4, LGALS1, ZNF234, GRB2, ABCA1, ELAVL1, USP6, BCAR1, SH3RF3, LRRK2, ARHGEF6, FGD3, TGFBR1, TGFBR2, RAP1A, ZNF420, DIAPH3, WIPF1, RIOK3, SSX2IP, NEK6, EPRS, LARS, RUVBL1, TCEB2, BIRC2, TRAF2, ERCC3, UNK, AHNAK, ATP6V1H, HNRNPA1, RAP1B, DUT, FARSA, NOTCH2, RAB11B, RAB14, RAB1A, RAB1B, STMN1, UQCRC2, VAPA, ARHGAP35, IFI16, DBN1, GOLT1B, LIMA1, GTSE1, FANCD2, KIFC3, MECP2, MSH3, MYH10, NDUFV3, PRDX1, RAD51, STX3, SF1, EIF2B3, SEC24C, GOLGA5, ARPC5, CEPT1, PRDX3, FKBP9, SCMH1, ZC3H4, PNISR, GOLIM4, ACAD9, ASTE1, POLR1D, NT5C3A, ZAK, SLC38A2, DNAJC10, MIEF1, EPB41L4B, RASIP1, RABL6, BBX, KIF17, ZSWIM5, WNK1, IQGAP3, MAPK9, MAPK8, CASP3, RCC2, MCM2, AGAP2, AGAP1, DLD, SOD1ALPLFBXO6, EEF1A1, SRPK2, ALOX5, SPCS2, SEC11C


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


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RelatedDrugs for CDC42_ALPL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALPLP05186DB09338MersalylAlkaline phosphatase, tissue-nonspecific isozymesmall moleculeapproved

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RelatedDiseases for CDC42_ALPL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC42C0036341Schizophrenia4PSYGENET
HgeneCDC42C0001624Adrenal Gland Neoplasms1CTD_human
HgeneCDC42C0019693HIV Infections1CTD_human
HgeneCDC42C0024667Animal Mammary Neoplasms1CTD_human
HgeneCDC42C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCDC42C0027540Necrosis1CTD_human
HgeneCDC42C4225222TAKENOUCHI-KOSAKI SYNDROME1UNIPROT
TgeneALPLC0268413Adult hypophosphatasia (disorder)27CTD_human;ORPHANET;UNIPROT
TgeneALPLC0220743Childhood hypophosphatasia (disorder)8CTD_human;ORPHANET;UNIPROT
TgeneALPLC0268412Infantile hypophosphatasia5CTD_human;HPO;ORPHANET;UNIPROT
TgeneALPLC0002382Alveolar Bone Loss1CTD_human
TgeneALPLC0006663Calcinosis1CTD_human
TgeneALPLC0018843Heat Stroke1CTD_human
TgeneALPLC0020503Hyperparathyroidism, Secondary1CTD_human
TgeneALPLC0023895Liver diseases1CTD_human
TgeneALPLC0036572Seizures1CTD_human;HPO