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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: 123

FusionGeneSummary for ABCA7_STK11

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCA7_STK11
Fusion gene ID: 123
HgeneTgene
Gene symbol

ABCA7

STK11

Gene ID

10347

6794

Gene nameATP binding cassette subfamily A member 7serine/threonine kinase 11
SynonymsABCA-SSN|ABCX|AD9LKB1|PJS|hLKB1
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family A member 7ATP-binding cassette, sub-family A (ABC1), member 7autoantigen SS-Nmacrophage ABC transporterserine/threonine-protein kinase STK11liver kinase B1polarization-related protein LKB1renal carcinoma antigen NY-REN-19serine/threonine-protein kinase 11serine/threonine-protein kinase LKB1
Modification date2018052320180522
UniProtAcc

Q8IZY2

Q15831

Ensembl transtripts involved in fusion geneENST00000263094, ENST00000433129, 
ENST00000435683, ENST00000533574, 
ENST00000585748, ENST00000326873, 
Fusion gene scores* DoF score5 X 5 X 3=756 X 5 X 6=180
# samples 57
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCA7 [Title/Abstract] AND STK11 [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
HgeneABCA7

GO:0033344

cholesterol efflux

14570867

HgeneABCA7

GO:0033700

phospholipid efflux

14570867

HgeneABCA7

GO:0034380

high-density lipoprotein particle assembly

14570867

HgeneABCA7

GO:0038027

apolipoprotein A-I-mediated signaling pathway

14570867

HgeneABCA7

GO:0045332

phospholipid translocation

24097981

TgeneSTK11

GO:0006468

protein phosphorylation

12805220|25329316

TgeneSTK11

GO:0007050

cell cycle arrest

12805220|17216128

TgeneSTK11

GO:0046777

protein autophosphorylation

11430832

TgeneSTK11

GO:0071493

cellular response to UV-B

25329316

TgeneSTK11

GO:0072332

intrinsic apoptotic signaling pathway by p53 class mediator

11430832


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
TCGALDBLCATCGA-UY-A8OB-01AABCA7chr19

1047653

+STK11chr19

1189408

+
* 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
Frame-shitENST00000263094ENST00000585748ABCA7chr19

1047653

+STK11chr19

1189408

+
5CDS-intronENST00000263094ENST00000326873ABCA7chr19

1047653

+STK11chr19

1189408

+
Frame-shitENST00000433129ENST00000585748ABCA7chr19

1047653

+STK11chr19

1189408

+
5CDS-intronENST00000433129ENST00000326873ABCA7chr19

1047653

+STK11chr19

1189408

+
Frame-shitENST00000435683ENST00000585748ABCA7chr19

1047653

+STK11chr19

1189408

+
5CDS-intronENST00000435683ENST00000326873ABCA7chr19

1047653

+STK11chr19

1189408

+
intron-3CDSENST00000533574ENST00000585748ABCA7chr19

1047653

+STK11chr19

1189408

+
intron-intronENST00000533574ENST00000326873ABCA7chr19

1047653

+STK11chr19

1189408

+

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FusionProtFeatures for ABCA7_STK11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCA7

Q8IZY2

STK11

Q15831

Plays a role in phagocytosis by macrophages of apoptoticcells. Binds APOA1 and may function in apolipoprotein-mediatedphospholipid efflux from cells. May also mediate cholesterolefflux. May regulate cellular ceramide homeostasis duringkeratinocytes differentiation. {ECO:0000269|PubMed:12917409,ECO:0000269|PubMed:12925201, ECO:0000269|PubMed:14570867,ECO:0000269|PubMed:14592415}. Tumor suppressor serine/threonine-protein kinase thatcontrols the activity of AMP-activated protein kinase (AMPK)family members, thereby playing a role in various processes suchas cell metabolism, cell polarity, apoptosis and DNA damageresponse. Acts by phosphorylating the T-loop of AMPK familyproteins, thus promoting their activity: phosphorylates PRKAA1,PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2,SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53.Acts as a key upstream regulator of AMPK by mediatingphosphorylation and activation of AMPK catalytic subunits PRKAA1and PRKAA2 and thereby regulates processes including: inhibitionof signaling pathways that promote cell growth and proliferationwhen energy levels are low, glucose homeostasis in liver,activation of autophagy when cells undergo nutrient deprivation,and B-cell differentiation in the germinal center in response toDNA damage. Also acts as a regulator of cellular polarity byremodeling the actin cytoskeleton. Required for cortical neuronpolarization by mediating phosphorylation and activation of BRSK1and BRSK2, leading to axon initiation and specification. Involvedin DNA damage response: interacts with p53/TP53 and recruited tothe CDKN1A/WAF1 promoter to participate in transcriptionactivation. Able to phosphorylate p53/TP53; the relevance of suchresult in vivo is however unclear and phosphorylation may beindirect and mediated by downstream STK11/LKB1 kinase NUAK1. Alsoacts as a mediator of p53/TP53-dependent apoptosis via interactionwith p53/TP53: translocates to the mitochondrion during apoptosisand regulates p53/TP53-dependent apoptosis pathways. In veinendothelial cells, inhibits PI3K/Akt signaling activity and thusinduces apoptosis in response to the oxidant peroxynitrite (invitro). Regulates UV radiation-induced DNA damage responsemediated by CDKN1A. In association with NUAK1, phosphorylatesCDKN1A in response to UV radiation and contributes to itsdegradation which is necessary for optimal DNA repair(PubMed:25329316). {ECO:0000269|PubMed:11430832,ECO:0000269|PubMed:12805220, ECO:0000269|PubMed:14517248,ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15016379,ECO:0000269|PubMed:15733851, ECO:0000269|PubMed:15987703,ECO:0000269|PubMed:17108107, ECO:0000269|PubMed:18321849,ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:25329316}. Isoform 2: Has a role in spermiogenesis. {ECO:0000250}.

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 ABCA7_STK11


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 ABCA7_STK11


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
ABCA7HNRNPD, LLGL2, SORT1, SYNCRIP, SGTB, HTR3A, GABRA3STK11CAB39, STRADA, SMARCA4, STK11IP, TP53, WDR48, FKBP5, STRADB, CAB39L, CDC37, HSP90AA1, MARK4, HSPA1A, RPAP3, USP11, LIMS1, KIF23, SMARCC1, GSK3B, MARK2, SIK1, STUB1, UBE2D2, TNIP2, APP, SNRK, AP2M1, EIF2B1, ETV4, TP63, SIRT1, PRKAA1, SPDEF, MAPRE1, CCDC136, COPS3, COPS4, H2AFX, WDR6, BCAS3, CYP17A1, KLK7, LYPD3, NAT2, RHOBTB2, S100A14, SERPINB5, ST14, THRSP, TRIM25, PRSS50, ADIPOR1, ARG2, CALM2, CFL2, CRY2, CTSB, D2HGDH, EEF1A2, ERLEC1, FAIM2, GNPDA1, ND2, MOCS2, PDXP, PHF23, PLD3, SEPT9, STK24, THOP1, TSG101, TUBA1A, TUBB4A, VPS72, TBC1D23, RPS6KB1, PRKAA2, HERC2, KDM4A, HSP90AA4P, HSP90AB3P, PIP4K2A, HSP90AB4P, C5orf24, HSP90AA5P, HSP90AB1, FAM175B, DVL2, IVD, NEMF, CSNK2A1, MAP2K1


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 ABCA7_STK11


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 ABCA7_STK11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCA7C0002395Alzheimer's Disease2CTD_human
TgeneSTK11C0031269Peutz-Jeghers Syndrome7CTD_human;ORPHANET;UNIPROT
TgeneSTK11C1336708Testicular Germ Cell Tumor3CTD_human;UNIPROT
TgeneSTK11C0001418Adenocarcinoma1CTD_human
TgeneSTK11C0007137Squamous cell carcinoma1CTD_human
TgeneSTK11C0020538Hypertensive disease1CTD_human
TgeneSTK11C0024121Lung Neoplasms1CTD_human
TgeneSTK11C0030297Pancreatic Neoplasm1CTD_human;HPO
TgeneSTK11C0149721Left Ventricular Hypertrophy1CTD_human
TgeneSTK11C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneSTK11C1257915Intestinal Polyposis1CTD_human