	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 16148

FusionGeneSummary for HGS_BAIAP2

Fusion gene summary

Fusion gene information	Fusion gene name: HGS_BAIAP2
	Fusion gene ID: 16148
		Hgene	Tgene
	Gene symbol	HGS	BAIAP2
	Gene ID	9146	10458
	Gene name	hepatocyte growth factor-regulated tyrosine kinase substrate	BAI1 associated protein 2
	Synonyms	HRS	BAP2\|FLAF3\|IRSP53
	Cytomap	17q25.3	17q25.3
	Type of gene	protein-coding	protein-coding
	Description	hepatocyte growth factor-regulated tyrosine kinase substratehuman growth factor-regulated tyrosine kinase substrateprotein pp110	brain-specific angiogenesis inhibitor 1-associated protein 2IRS-58IRSp53/58fas ligand-associated factor 3insulin receptor substrate of 53 kDainsulin receptor substrate p53/p58insulin receptor substrate protein of 53 kDa
	Modification date	20180522	20180523
	UniProtAcc	O14964	Q9UQB8
	Ensembl transtripts involved in fusion gene	ENST00000329138,	ENST00000392411, ENST00000321280, ENST00000428708, ENST00000575712, ENST00000575245, ENST00000435091, ENST00000321300, ENST00000573894, ENST00000416299,
Fusion gene scores	* DoF score	4 X 5 X 3=60	10 X 7 X 6=420
	# samples	5	10
	** MAII score	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/420*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HGS [Title/Abstract] AND BAIAP2 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	HGS	GO:0046426	negative regulation of JAK-STAT cascade	12444102

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	STAD	TCGA-BR-4357-01A	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+

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

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000329138	ENST00000392411	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-intron	ENST00000329138	ENST00000321280	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-intron	ENST00000329138	ENST00000428708	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-intron	ENST00000329138	ENST00000575712	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-3UTR	ENST00000329138	ENST00000575245	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-3UTR	ENST00000329138	ENST00000435091	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-3UTR	ENST00000329138	ENST00000321300	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-intron	ENST00000329138	ENST00000573894	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+
5CDS-intron	ENST00000329138	ENST00000416299	HGS	chr17	79658601	+	BAIAP2	chr17	79089570	+

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FusionProtFeatures for HGS_BAIAP2

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
HGS O14964	BAIAP2 Q9UQB8
Involved in intracellular signal transduction mediatedby cytokines and growth factors. When associated with STAM, itsuppresses DNA signaling upon stimulation by IL-2 and GM-CSF.Could be a direct effector of PI3-kinase in vesicular pathway viaearly endosomes and may regulate trafficking to early and lateendosomes by recruiting clathrin. May concentrate ubiquitinatedreceptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body(MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0complex binds ubiquitin and acts as sorting machinery thatrecognizes ubiquitinated receptors and transfers them to furthersequential lysosomal sorting/trafficking processes. May contributeto the efficient recruitment of SMADs to the activin receptorcomplex. Involved in receptor recycling via its association withthe CART complex, a multiprotein complex required for efficienttransferrin receptor recycling but not for EGFR degradation.	Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of theactin cytoskeleton by WASF family members and the Arp2/3 complex.Plays a role in neurite growth. Acts syngeristically with ENAH topromote filipodia formation. Plays a role in the reorganization ofthe actin cytoskeleton in response to bacterial infection.Participates in actin bundling when associated with EPS8,promoting filopodial protrusions. {ECO:0000269\|PubMed:11130076,ECO:0000269\|PubMed:11696321, ECO:0000269\|PubMed:14752106,ECO:0000269\|PubMed:17115031, ECO:0000269\|PubMed:19366662}.

Retention 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.

>>>>>>

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

HGS

chr17:79658601

chr17:79089570

ENST00000329138

15_143

220

778

Domain

VHS

Hgene

HGS

chr17:79658601

chr17:79089570

ENST00000329138

160_220

220

778

Zinc finger

FYVE-type

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321280

132_153

-35

522

Coiled coil

Ontology_term=ECO:0000255

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000575712

132_153

-33

513

Coiled coil

Ontology_term=ECO:0000255

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321280

1_250

-35

522

Domain

IMD

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321280

374_437

-35

522

Domain

SH3

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000575712

1_250

-33

513

Domain

IMD

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000575712

374_437

-33

513

Domain

SH3

- In-frame and not-retained protein feature among the 13 regional features.

>>>

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

HGS

chr17:79658601

chr17:79089570

ENST00000329138

346_394

220

778

Compositional bias

Note=Pro-rich

Hgene

HGS

chr17:79658601

chr17:79089570

ENST00000329138

505_772

220

778

Compositional bias

Note=Gln-rich

Hgene

HGS

chr17:79658601

chr17:79089570

ENST00000329138

258_277

220

778

Domain

UIM

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321300

132_153

511

553

Coiled coil

Ontology_term=ECO:0000255

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000428708

132_153

511

535

Coiled coil

Ontology_term=ECO:0000255

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000435091

132_153

527

623

Coiled coil

Ontology_term=ECO:0000255

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321300

1_250

511

553

Domain

IMD

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000321300

374_437

511

553

Domain

SH3

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000428708

1_250

511

535

Domain

IMD

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000428708

374_437

511

535

Domain

SH3

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000435091

1_250

527

623

Domain

IMD

Tgene

BAIAP2

chr17:79658601

chr17:79089570

ENST00000435091

374_437

527

623

Domain

SH3

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FusionGeneSequence for HGS_BAIAP2

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.

>In-frame_HGS_ENST00000329138_chr17_79658601_+_BAIAP2_ENST00000392411_chr17_79089570_+_244aa
MGRGSGTFERLLDKATSQLLLETDWESILQICDLIRQGDTQAKYAVNSIKKKVNDKNPHVALYALEVMESVVKNCGQTVHDEVANKQTME
ELKDLLKRQVEVNVRNKILYLIQAWAHAFRNEPKYKVVQDTYQIMKVEGHVFPEFKESDAMFAAERAPDWVDAEECHRCRVQFGVMTRKH

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

>In-frame_HGS_ENST00000329138_chr17_79658601_+_BAIAP2_ENST00000392411_chr17_79089570_+_732nt
ATGGGGCGAGGCAGCGGCACCTTCGAGCGTCTCCTAGACAAGGCGACCAGCCAGCTCCTGTTGGAGACAGATTGGGAGTCCATTTTGCAG
ATCTGCGACCTGATCCGCCAAGGGGACACACAAGCAAAATATGCTGTGAATTCCATCAAGAAGAAAGTCAACGACAAGAACCCACACGTC
GCCTTGTATGCCCTGGAGGTCATGGAATCTGTGGTAAAGAACTGTGGCCAGACAGTTCATGATGAGGTGGCCAACAAGCAGACCATGGAG
GAGCTGAAGGACCTGCTGAAGAGACAAGTGGAGGTAAACGTCCGTAACAAGATCCTGTACCTGATCCAGGCCTGGGCGCATGCCTTCCGG
AACGAGCCCAAGTACAAGGTGGTCCAGGACACCTACCAGATCATGAAGGTGGAGGGGCACGTCTTTCCAGAATTCAAAGAGAGCGATGCC
ATGTTTGCTGCCGAGAGAGCCCCAGACTGGGTGGACGCTGAGGAATGCCACCGCTGCAGGGTGCAGTTCGGGGTGATGACCCGTAAGCAC
CACTGCCGGGCGTGTGGGCAGATATTCTGTGGAAAGTGTTCTTCCAAGTACTCCACCATCCCCAAGTTTGGCATCGAGAAGGAGGTGCGC
GTGTGTGAGCCCTGCTACGAGCAGCTGAACAGGAATCCCTTTGCCCACGTCCAGCTGAAGCCGACAGTGACCAACGACAGGTCTGCCCCC

* Fusion transcript sequences (Full-length transcript).

>In-frame_HGS_ENST00000329138_chr17_79658601_+_BAIAP2_ENST00000392411_chr17_79089570_+_1006nt
CCTCGCGGCTCTAGGGCCGGCGCGGTGACGTGCGCGTGCGCGCACTGGAGGGAAAAGGCGGAAGCGGAAGTCGGGGGGCGCGCCAGCTCG
TAGCAGGGGAGCGCCCGCGGCGTCGGGTTTGGGCTGGAGGTCGCCATGGGGCGAGGCAGCGGCACCTTCGAGCGTCTCCTAGACAAGGCG
ACCAGCCAGCTCCTGTTGGAGACAGATTGGGAGTCCATTTTGCAGATCTGCGACCTGATCCGCCAAGGGGACACACAAGCAAAATATGCT
GTGAATTCCATCAAGAAGAAAGTCAACGACAAGAACCCACACGTCGCCTTGTATGCCCTGGAGGTCATGGAATCTGTGGTAAAGAACTGT
GGCCAGACAGTTCATGATGAGGTGGCCAACAAGCAGACCATGGAGGAGCTGAAGGACCTGCTGAAGAGACAAGTGGAGGTAAACGTCCGT
AACAAGATCCTGTACCTGATCCAGGCCTGGGCGCATGCCTTCCGGAACGAGCCCAAGTACAAGGTGGTCCAGGACACCTACCAGATCATG
AAGGTGGAGGGGCACGTCTTTCCAGAATTCAAAGAGAGCGATGCCATGTTTGCTGCCGAGAGAGCCCCAGACTGGGTGGACGCTGAGGAA
TGCCACCGCTGCAGGGTGCAGTTCGGGGTGATGACCCGTAAGCACCACTGCCGGGCGTGTGGGCAGATATTCTGTGGAAAGTGTTCTTCC
AAGTACTCCACCATCCCCAAGTTTGGCATCGAGAAGGAGGTGCGCGTGTGTGAGCCCTGCTACGAGCAGCTGAACAGGAATCCCTTTGCC
CACGTCCAGCTGAAGCCGACAGTGACCAACGACAGGTCTGCCCCCCTCCTCAGCTGATGGCCACATCTGCAGTGCTGCCCATCTGGTGGC
TTCCCCCGCCCTTCCCATGTAGCCTGTTCTGTCATCATCTGTGCGTTCCTGTGTAGAGAACATCCAGGCCCCGGCTGCCTGGTCTTGCCC

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FusionGenePPI for HGS_BAIAP2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
HGS	CLTC, HAP1, VPS37C, EXOC7, KRT19, GKAP1, USHBP1, EHMT2, EXOC8, NMI, MIF4GD, LDOC1, CCDC33, BEGAIN, LURAP1, DAZAP2, UBE2I, STAM2, MED7, KRT18, UBQLN1, TADA2A, STAM, TSG101, NF2, DLG4, EPS15, SNX1, PAK1, MAP3K7, LYST, NEDD4, SCAMP3, APP, APLP2, ATP2A2, ARL6IP1, BSG, TIMMDC1, BRINP3, VMP1, SUN2, AHCYL1, CASK, TJP2, HSPA8, MAP3K10, STXBP1, SCRN1, CRMP1, DCTN2, GFAP, MARK4, PPP1R16A, RHOBTB3, TUBB2A, ESRRG, ILKAP, PPP1R7, RSU1, UBA1, ACLY, CBS, DECR1, MAT2A, MTHFD1L, OSBPL5, PLD3, PFKM, HNRNPDL, RPS3A, SF3B3, LINC00265, PTCD3, ZNF302, MEST, TMCC2, ATP1A1, TRAP1, GGA2, TUBB, IL2RB, EGFR, UBC, APC, VPS4A, ITCH, OCLN, GJA1, ABCA1, JAG1, SH3KBP1, ARRB1, IL4R, SCNN1A, NEDD4L, TMEM189, CEP55, TOM1L1, TFRC, INSR, VEGFA, TLR4, CD4, ARMC8, SMAD1, SMAD3, SMAD2, SMAD4, FGFR2, BST2, SMAD5, PELP1, TRAK1, UBQLN4, ATXN1L, GFI1B, VPS35, SNAP25, VAMP2, STX12, SPRY2, ACTN4, TRIM3, MYO5A, CIT, RANGRF, RNF11, GRB2, SNX5, PTPN23, MKNK1, YWHAB, IL2RA, AES, HGH1, SF3A3, SLK, TTC4, REPIN1, WDR77, UBE4B, DTX3L, LRIG1, MET, DGCR6, NPAS2, PITX1, CSTF2, KRT6A, KRT15, KRT31, MAGEB4, SUMO1, KRT38, LITAF, JAKMIP2, ABI2, BCAS2, NDC80, POGZ, CSTF2T, ARFIP2, SNX7, NUP54, CTTNBP2NL, ING5, INTS4, CCDC114, MAPK1IP1L, MRFAP1L1, KRT40, P4HA3, CEP57L1, CCDC103, PEF1, SHMT2, MOV10, NXF1, ADRB2, AVPR2, ARRB2, ARRDC3, NEDD8, SCNN1B, MAP3K1, LAPTM4B, LTBR, SNX2, HNRNPK, SEC23A, SNX12, SNX3, NTRK1, TMEM17, GOLT1B, ROCK1, VPS33B, NOTCH1, SYK, PMEPA1, PTPRN2, HSPBP1, ERBB3	BAIAP2	NCKIPSD, EPS8, YWHAG, C14orf1, SHANK1, CDC42, ENAH, ATN1, WASF1, WASF2, RAC1, PAK1, NEDD4, BRD4, APP, RHOA, YWHAE, RTN4, WASL, SRPK2, YWHAB, HECW2, KDM1A, WWOX, MARK2, TP53BP2, SF3B4, BAIAP2, PRR13, C19orf25, ZDHHC17, EGFR, NCK2, NCKAP1, CYFIP2, CYFIP1, BAIAP2L1, RAP1GDS1, KIAA1522, ABI1, GRB10, PCM1, NIN, CRY1, CSNK1E, DECR1, MPZL1, RAB11FIP2, PPIL2, TFB1M, RBM26, CHMP6, RAB11FIP1, BAI1, CDH1, PTPRA, PTPRE, KCTD3, KIF13B, ZBTB21, KSR1, CBY1, RAB3IP, TRIM25

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	HGS	chr17:79658601	chr17:79089570	ENST00000329138	+	8	22	480_777	220	778	NF2
Hgene	HGS	chr17:79658601	chr17:79089570	ENST00000329138	+	8	22	445_543	220	778	SNAP25 and TRAK2
Hgene	HGS	chr17:79658601	chr17:79089570	ENST00000329138	+	8	22	225_543	220	778	SNX1
Hgene	HGS	chr17:79658601	chr17:79089570	ENST00000329138	+	8	22	454_572	220	778	STAM

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for HGS_BAIAP2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	HGS	O14964	DB04272	Citric Acid	Hepatocyte growth factor-regulated tyrosine kinase substrate	small molecule	approved\|nutraceutical\|vet_approved

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RelatedDiseases for HGS_BAIAP2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 16148

FusionGeneSummary for HGS_BAIAP2

FusionProtFeatures for HGS_BAIAP2

FusionGeneSequence for HGS_BAIAP2

FusionGenePPI for HGS_BAIAP2

RelatedDrugs for HGS_BAIAP2

RelatedDiseases for HGS_BAIAP2