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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: 19386

FusionGeneSummary for LAMB1_PITPNC1

check button Fusion gene summary
Fusion gene informationFusion gene name: LAMB1_PITPNC1
Fusion gene ID: 19386
HgeneTgene
Gene symbol

LAMB1

PITPNC1

Gene ID

3912

26207

Gene namelaminin subunit beta 1phosphatidylinositol transfer protein cytoplasmic 1
SynonymsCLM|LIS5M-RDGB-beta|MRDGBbeta|RDGB-BETA|RDGBB|RDGBB1
Cytomap

7q31.1

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionlaminin subunit beta-1laminin B1 chainlaminin, beta 1cytoplasmic phosphatidylinositol transfer protein 1M-rdgB betamammalian rdgB homolog betaretinal degeneration B beta 1retinal degeneration B homolog beta
Modification date2018052220180523
UniProtAcc

P07942

Q9UKF7

Ensembl transtripts involved in fusion geneENST00000393561, ENST00000222399, 
ENST00000393560, ENST00000474380, 
ENST00000580974, ENST00000299954, 
ENST00000335257, ENST00000581322, 
Fusion gene scores* DoF score10 X 8 X 4=32023 X 12 X 9=2484
# samples 1026
** MAII scorelog2(10/320*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/2484*10)=-3.25608164519203
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LAMB1 [Title/Abstract] AND PITPNC1 [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
HgeneLAMB1

GO:0030335

positive regulation of cell migration

16289578

HgeneLAMB1

GO:0031175

neuron projection development

15894315

HgeneLAMB1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

HgeneLAMB1

GO:0042476

odontogenesis

15894315

TgenePITPNC1

GO:0015914

phospholipid transport

22822086


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
ChiTaRS3.1BG000078LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
* 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
intron-intronENST00000393561ENST00000580974LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393561ENST00000299954LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393561ENST00000335257LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393561ENST00000581322LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000222399ENST00000580974LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000222399ENST00000299954LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000222399ENST00000335257LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000222399ENST00000581322LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393560ENST00000580974LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393560ENST00000299954LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393560ENST00000335257LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000393560ENST00000581322LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000474380ENST00000580974LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000474380ENST00000299954LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000474380ENST00000335257LAMB1chr7

107641280

-PITPNC1chr17

65408961

+
intron-intronENST00000474380ENST00000581322LAMB1chr7

107641280

-PITPNC1chr17

65408961

+

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FusionProtFeatures for LAMB1_PITPNC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LAMB1

P07942

PITPNC1

Q9UKF7

Binding to cells via a high affinity receptor, lamininis thought to mediate the attachment, migration and organizationof cells into tissues during embryonic development by interactingwith other extracellular matrix components. Involved in theorganization of the laminar architecture of cerebral cortex. It isprobably required for the integrity of the basement membrane/glialimitans that serves as an anchor point for the endfeet of radialglial cells and as a physical barrier to migrating neurons. Radialglial cells play a central role in cerebral cortical development,where they act both as the proliferative unit of the cerebralcortex and a scaffold for neurons migrating toward the pialsurface. {ECO:0000269|PubMed:23472759}. Phosphatidylinositol transfer proteins mediate themonomeric transport of lipids by shielding a lipid from theaqueous environment and binding the lipid in a hydrophobic cavity.Able to transfer phosphatidylinositol in vitro.{ECO:0000269|PubMed:10531358}.

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 LAMB1_PITPNC1


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 LAMB1_PITPNC1


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


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RelatedDrugs for LAMB1_PITPNC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LAMB1_PITPNC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLAMB1C0004352Autistic Disorder1CTD_human
HgeneLAMB1C0009324Ulcerative Colitis1CTD_human
HgeneLAMB1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneLAMB1C0014175Endometriosis1CTD_human