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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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Fusion gene ID: 36924

FusionGeneSummary for SYNGAP1_COL11A2

check button Fusion gene summary
Fusion gene informationFusion gene name: SYNGAP1_COL11A2
Fusion gene ID: 36924
HgeneTgene
Gene symbol

SYNGAP1

COL11A2

Gene ID

8831

1302

Gene namesynaptic Ras GTPase activating protein 1collagen type XI alpha 2 chain
SynonymsMRD5|RASA1|RASA5|SYNGAPDFNA13|DFNB53|FBCG2|HKE5|OSMEDA|OSMEDB|PARP|STL3
Cytomap

6p21.32

6p21.32

Type of geneprotein-codingprotein-coding
Descriptionras/Rap GTPase-activating protein SynGAPRas GTPase-activating protein SynGAPneuronal RasGAPsynaptic Ras GTPase activating protein 1 homologsynaptic Ras GTPase activating protein, 135kDacollagen alpha-2(XI) chaincollagen, type XI, alpha 2pro-a2 chain of collagen type XI
Modification date2018051920180523
UniProtAcc

Q96PV0

P13942

Ensembl transtripts involved in fusion geneENST00000293748, ENST00000418600, 
ENST00000496374, ENST00000428982, 
ENST00000461459, ENST00000551507, 
ENST00000455687, ENST00000395071, 
ENST00000414753, 
ENST00000374708, 
ENST00000374712, ENST00000374713, 
ENST00000357486, ENST00000361917, 
ENST00000395197, ENST00000374714, 
ENST00000341947, ENST00000477772, 
ENST00000395194, ENST00000383087, 
ENST00000551559, ENST00000549289, 
ENST00000550561, ENST00000549811, 
ENST00000547261, ENST00000549381, 
ENST00000547999, ENST00000551542, 
ENST00000439039, ENST00000448717, 
ENST00000550517, ENST00000551536, 
ENST00000550998, ENST00000547883, 
ENST00000552556, ENST00000551758, 
ENST00000551572, ENST00000551786, 
ENST00000494246, ENST00000452937, 
ENST00000447349, ENST00000551637, 
ENST00000549885, ENST00000553210, 
ENST00000550955, ENST00000552765, 
ENST00000552473, ENST00000547846, 
ENST00000549088, ENST00000496392, 
ENST00000447741, ENST00000383219, 
ENST00000549290, ENST00000548739, 
ENST00000552971, ENST00000547561, 
ENST00000553240, ENST00000549836, 
ENST00000549491, ENST00000550101, 
ENST00000383088, ENST00000425729, 
ENST00000551234, ENST00000551413, 
ENST00000551262, ENST00000546402, 
ENST00000552796, ENST00000552134, 
ENST00000547597, ENST00000546998, 
ENST00000496849, ENST00000435763, 
ENST00000486982, ENST00000548637, 
ENST00000548137, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: SYNGAP1 [Title/Abstract] AND COL11A2 [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
TgeneCOL11A2

GO:0030199

collagen fibril organization

9188673


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
TCGARVPAADTCGA-IB-AAUN-01ASYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
* 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-shiftENST00000293748ENST00000374708SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000374712SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000374713SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000357486SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000361917SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000395197SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000374714SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000293748ENST00000341947SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000477772SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000395194SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000383087SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551559SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549289SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000550561SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549811SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547261SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549381SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547999SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551542SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000439039SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000448717SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000550517SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551536SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000550998SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547883SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552556SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551758SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551572SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551786SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000494246SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000452937SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000447349SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551637SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549885SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000553210SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000550955SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552765SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552473SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547846SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549088SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000496392SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000447741SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000383219SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549290SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000548739SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552971SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547561SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000553240SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549836SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000549491SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000550101SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000383088SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000425729SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551234SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551413SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000551262SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000546402SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552796SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000552134SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000547597SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000546998SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000496849SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000435763SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000486982SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000548637SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000293748ENST00000548137SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000374708SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000374712SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000374713SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000357486SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000361917SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000395197SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000374714SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
Frame-shiftENST00000418600ENST00000341947SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000477772SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000395194SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000383087SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551559SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549289SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000550561SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549811SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547261SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549381SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547999SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551542SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000439039SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000448717SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000550517SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551536SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000550998SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547883SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552556SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551758SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551572SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551786SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000494246SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000452937SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000447349SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551637SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549885SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000553210SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000550955SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552765SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552473SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547846SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549088SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000496392SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000447741SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000383219SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549290SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000548739SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552971SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547561SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000553240SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549836SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000549491SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000550101SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000383088SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000425729SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551234SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551413SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000551262SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000546402SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552796SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000552134SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000547597SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000546998SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000496849SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000435763SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000486982SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000548637SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
5CDS-intronENST00000418600ENST00000548137SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
3UTR-3CDSENST00000496374ENST00000374708SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
3UTR-3CDSENST00000496374ENST00000374712SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
3UTR-3CDSENST00000496374ENST00000374713SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
3UTR-3CDSENST00000496374ENST00000357486SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
3UTR-3CDSENST00000496374ENST00000361917SYNGAP1chr6

33393680

+COL11A2chr6

33133983

-
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FusionProtFeatures for SYNGAP1_COL11A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYNGAP1

Q96PV0

COL11A2

P13942

Major constituent of the PSD essential for postsynapticsignaling. Inhibitory regulator of the Ras-cAMP pathway. Member ofthe NMDAR signaling complex in excitatory synapses, it may play arole in NMDAR-dependent control of AMPAR potentiation, AMPARmembrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dualGTPase-activating specificity for Ras and Rap. May be involved incertain forms of brain injury, leading to long-term learning andmemory deficits (By similarity). {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 SYNGAP1_COL11A2


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 SYNGAP1_COL11A2


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
SYNGAP1ULK1, ULK2, DLG4, DLG3, SAAL1COL11A2WDR20, TK1, PIN1, ANXA7


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 SYNGAP1_COL11A2


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 SYNGAP1_COL11A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSYNGAP1C0004352Autistic Disorder1CTD_human
HgeneSYNGAP1C0014544Epilepsy1CTD_human
HgeneSYNGAP1C0036341Schizophrenia1PSYGENET
HgeneSYNGAP1C2675473Mental Retardation, Autosomal Dominant 51CTD_human;UNIPROT
HgeneSYNGAP1C3714756Intellectual Disability1CTD_human;HPO
TgeneCOL11A2C1855310Megaepiphyseal dwarfism2CTD_human;ORPHANET;UNIPROT
TgeneCOL11A2C1864746Deafness, Autosomal Recessive 532CTD_human;UNIPROT
TgeneCOL11A2C0007302Cartilage Diseases1CTD_human
TgeneCOL11A2C0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
TgeneCOL11A2C0206762Limb Deformities, Congenital1CTD_human
TgeneCOL11A2C0376634Craniofacial Abnormalities1CTD_human
TgeneCOL11A2C1848488Pierre Robin syndrome with fetal chondrodysplasia1CTD_human;ORPHANET;UNIPROT
TgeneCOL11A2C1866095Deafness, Autosomal Dominant 131CTD_human;UNIPROT