	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 826

FusionGeneSummary for ADCY2_SAMM50

Fusion gene summary

Fusion gene information	Fusion gene name: ADCY2_SAMM50
	Fusion gene ID: 826
		Hgene	Tgene
	Gene symbol	ADCY2	SAMM50
	Gene ID	108	25813
	Gene name	adenylate cyclase 2	SAMM50 sorting and assembly machinery component
	Synonyms	AC2\|HBAC2	CGI-51\|OMP85\|SAM50\|TOB55\|TRG-3\|YNL026W
	Cytomap	5p15.31	22q13.31
	Type of gene	protein-coding	protein-coding
	Description	adenylate cyclase type 23',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 2adenylate cyclase 2 (brain)adenylate cyclase IIadenylate cyclase type IIadenylyl cyclase 2type II adenylate cyclase	sorting and assembly machinery component 50 homologsorting and assembly machinery 50kDatransformation-related gene 3 protein
	Modification date	20180522	20180527
	UniProtAcc	Q08462	Q9Y512
	Ensembl transtripts involved in fusion gene	ENST00000338316, ENST00000537121, ENST00000513693,	ENST00000350028, ENST00000493161, ENST00000396202,
Fusion gene scores	* DoF score	20 X 19 X 5=1900	5 X 5 X 4=100
	# samples	21	5
	** MAII score	log2(21/1900*10)=-3.17753818555219 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ADCY2 [Title/Abstract] AND SAMM50 [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
Tgene	SAMM50	GO:0045040	protein import into mitochondrial outer membrane	15644312

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	LD	SKCM	TCGA-FS-A4F4-06A	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+

* 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	ENST00000338316	ENST00000350028	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
5CDS-intron	ENST00000338316	ENST00000493161	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
5CDS-5UTR	ENST00000338316	ENST00000396202	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-3CDS	ENST00000537121	ENST00000350028	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-intron	ENST00000537121	ENST00000493161	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-5UTR	ENST00000537121	ENST00000396202	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-3CDS	ENST00000513693	ENST00000350028	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-intron	ENST00000513693	ENST00000493161	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+
intron-5UTR	ENST00000513693	ENST00000396202	ADCY2	chr5	7414883	+	SAMM50	chr22	44359166	+

Top

FusionProtFeatures for ADCY2_SAMM50

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

Hgene	Tgene
ADCY2 Q08462	SAMM50 Q9Y512
Catalyzes the formation of the signaling molecule cAMPin response to G-protein signaling (PubMed:15385642). Down-streamsignaling cascades mediate changes in gene expression patterns andlead to increased IL6 production. Functions in signaling cascadesdownstream of the muscarinic acetylcholine receptors (Bysimilarity). {ECO:0000250\|UniProtKB:P26769,ECO:0000269\|PubMed:15385642}.	Plays a crucial role in the maintenance of the structureof mitochondrial cristae and the proper assembly of themitochondrial respiratory chain complexes (PubMed:22252321,PubMed:25781180). Required for the assembly of TOMM40 into the TOMcomplex (PubMed:15644312). {ECO:0000269\|PubMed:15644312,ECO:0000269\|PubMed:22252321, ECO:0000269\|PubMed:25781180}.

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

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

1_45

136

1092

Topological domain

Cytoplasmic

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

108_128

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

46_66

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

76_96

136

1092

Transmembrane

Helical

Tgene

SAMM50

chr5:7414883

chr22:44359166

ENST00000350028

45_125

470

Domain

POTRA

- 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

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

1019_1021

136

1092

Nucleotide binding

ATP

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

1026_1030

136

1092

Nucleotide binding

ATP

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

295_300

136

1092

Nucleotide binding

ATP

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

337_339

136

1092

Nucleotide binding

ATP

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

208_601

136

1092

Topological domain

Cytoplasmic

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

822_1091

136

1092

Topological domain

Cytoplasmic

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

133_153

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

159_179

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

187_207

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

602_622

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

628_652

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

680_701

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

734_755

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

763_780

136

1092

Transmembrane

Helical

Hgene

ADCY2

chr5:7414883

chr22:44359166

ENST00000338316

801_821

136

1092

Transmembrane

Helical

Top

FusionGeneSequence for ADCY2_SAMM50

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_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_599aa
MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDHVAFLITVPTALAIFF
AIFILVCIESVFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVH
FDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEG
SMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGV
WRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGG
MLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGP

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

>In-frame_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_1797nt
ATGTGGCAGGAGGCGATGCGGCGCCGCCGCTACCTGCGGGACCGCTCCGAGGAGGCGGCGGGCGGCGGAGACGGGCTGCCGCGGTCCCGG
GACTGGCTCTACGAGTCCTACTACTGCATGAGCCAGCAGCACCCGCTCATCGTCTTCCTGCTGCTCATCGTCATGGGCTCCTGCCTCGCC
CTGCTCGCCGTCTTCTTCGCGCTCGGGCTGGAAGTTGAAGACCATGTGGCGTTTCTAATAACAGTTCCAACTGCCCTGGCGATTTTCTTT
GCGATATTTATCCTGGTCTGCATCGAGTCTGTGTTTAAGAAGCTGCTGCGCCTCTTCTCGTTGGTGATATGGATATGCCTTGTTGCCATG
GGATACCTGTTCATGTGTTTTGGAGGCACCGTCTCTCCCTGGGACCAGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGA
TTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCAT
TTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGG
AAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCA
CTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGC
AGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCG
TATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGG
AGCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTA
TGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCC
ATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGG
GATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGA
ATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCAC
AGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGG
CCAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCC
AAAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAA

* Fusion transcript sequences (Full-length transcript).

>In-frame_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_2036nt
AGGCGGCGCGGGGGTGGGACGCGGGCGGCCGCGGCGAGCGGCGCTGCCCGGGCCGGGCGCGCACGGCGGGCGCCCTGTGAGCGGCCCCGA
TGTGGCAGGAGGCGATGCGGCGCCGCCGCTACCTGCGGGACCGCTCCGAGGAGGCGGCGGGCGGCGGAGACGGGCTGCCGCGGTCCCGGG
ACTGGCTCTACGAGTCCTACTACTGCATGAGCCAGCAGCACCCGCTCATCGTCTTCCTGCTGCTCATCGTCATGGGCTCCTGCCTCGCCC
TGCTCGCCGTCTTCTTCGCGCTCGGGCTGGAAGTTGAAGACCATGTGGCGTTTCTAATAACAGTTCCAACTGCCCTGGCGATTTTCTTTG
CGATATTTATCCTGGTCTGCATCGAGTCTGTGTTTAAGAAGCTGCTGCGCCTCTTCTCGTTGGTGATATGGATATGCCTTGTTGCCATGG
GATACCTGTTCATGTGTTTTGGAGGCACCGTCTCTCCCTGGGACCAGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGAT
TAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATT
TTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGGA
AATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCAC
TTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGCA
GTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGT
ATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGA
GCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTAT
GGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCA
TGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGGG
ATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGAA
TGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCACA
GCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGC
CAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCCA
AAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAAC
TTAATTACTGCGTCCCCATGGGAGTACAGACAGGCGACAGGATATGTGATGGCGTCCAGTTTGGAGCTGGGATAAGGTTCCTGTAGCCGA
CACCCCTACAGGAGAAGCTCTGGGACTGGGGCAGCAGCAAGGCGCCCATGCCACACACCGTCTCTCGAGGAAACGCGGTTCAGCGATTCT

Top

FusionGenePPI for ADCY2_SAMM50

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
ADCY2	ADCY5, GNAS	SAMM50	MEOX2, MINOS1, TOMM22, NDUFS8, MRPL11, NDUFS3, SSBP1, SDHA, HSPA8, MRPS11, CYC1, SURF1, RPS23, NDUFB8, TOMM40, HNRNPM, SQRDL, SERINC1, HNRNPUL1, RHOT2, SLC25A17, CLN3, NPM1, CHCHD3, SUZ12, EGFR, TIMMDC1, MTX2, C19orf70, APOOL, C15orf48, NDUFA4, DUSP22, MTM1, RAB8A

- 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	ADCY2	chr5:7414883	chr22:44359166	ENST00000338316	+	2	25	905_922	136	1092	GNAS
Hgene	ADCY2	chr5:7414883	chr22:44359166	ENST00000338316	+	2	25	990_993	136	1092	GNAS

- 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

Top

RelatedDrugs for ADCY2_SAMM50

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	ADCY2	Q08462	DB09121	Aurothioglucose	Adenylate cyclase type 2	small molecule	approved\|withdrawn

Top

RelatedDiseases for ADCY2_SAMM50

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ADCY2	C0004096	Asthma	1	CTD_human
Hgene	ADCY2	C0005586	Bipolar Disorder	1	PSYGENET

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 826

FusionGeneSummary for ADCY2_SAMM50

FusionProtFeatures for ADCY2_SAMM50

FusionGeneSequence for ADCY2_SAMM50

FusionGenePPI for ADCY2_SAMM50

RelatedDrugs for ADCY2_SAMM50

RelatedDiseases for ADCY2_SAMM50