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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:FGFR2-AHCYL1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FGFR2-AHCYL1
FusionPDB ID: 30273
FusionGDB2.0 ID: 30273
HgeneTgene
Gene symbol

FGFR2

AHCYL1

Gene ID

2263

10768

Gene namefibroblast growth factor receptor 2adenosylhomocysteinase like 1
SynonymsBBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA
Cytomap

10q26.13

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14S-adenosylhomocysteine hydrolase-like protein 1DC-expressed AHCY-like moleculeIP(3)Rs binding protein released with IP(3)S-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2adenosylhomocysteinase 2adoHcyase 2dendritic cell
Modification date2020032220200313
UniProtAcc

P21802

O43865

Ensembl transtripts involved in fusion geneENST idsENST00000346997, ENST00000351936, 
ENST00000356226, ENST00000357555, 
ENST00000358487, ENST00000360144, 
ENST00000369056, ENST00000369059, 
ENST00000369060, ENST00000369061, 
ENST00000457416, ENST00000478859, 
ENST00000359354, ENST00000490349, 
ENST00000475081, ENST00000359172, 
ENST00000393614, ENST00000369799, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score24 X 20 X 12=576011 X 13 X 4=572
# samples 3812
** MAII scorelog2(38/5760*10)=-3.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/572*10)=-2.25298074116987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FGFR2 [Title/Abstract] AND AHCYL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FGFR2(123243212)-AHCYL1(110551654), # samples:2
Anticipated loss of major functional domain due to fusion event.FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
FGFR2-AHCYL1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneFGFR2

GO:0008284

positive regulation of cell proliferation

8663044

HgeneFGFR2

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044|15629145

HgeneFGFR2

GO:0018108

peptidyl-tyrosine phosphorylation

15629145|16844695

HgeneFGFR2

GO:0046777

protein autophosphorylation

15629145

TgeneAHCYL1

GO:0006378

mRNA polyadenylation

19224921

TgeneAHCYL1

GO:0031440

regulation of mRNA 3'-end processing

19224921

TgeneAHCYL1

GO:0038166

angiotensin-activated signaling pathway

20584908

TgeneAHCYL1

GO:0051592

response to calcium ion

18829453


check buttonFusion gene breakpoints across FGFR2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across AHCYL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAB821309FGFR2chr10

123243212

-AHCYL1chr1

110551654

+
ChiTaRS5.0N/ALP131425FGFR2chr10

123243212

-AHCYL1chr1

110551654

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000369061FGFR2chr10123243212-ENST00000369799AHCYL1chr1110551654+564321154835871179
ENST00000346997FGFR2chr10123243212-ENST00000369799AHCYL1chr1110551654+583523071237791255
ENST00000369056FGFR2chr10123243212-ENST00000369799AHCYL1chr1110551654+585623282438001258

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000369061ENST00000369799FGFR2chr10123243212-AHCYL1chr1110551654+0.0002585390.9997415
ENST00000346997ENST00000369799FGFR2chr10123243212-AHCYL1chr1110551654+0.0001999040.99980015
ENST00000369056ENST00000369799FGFR2chr10123243212-AHCYL1chr1110551654+0.0003525470.9996475

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>30273_30273_1_FGFR2-AHCYL1_FGFR2_chr10_123243212_ENST00000346997_AHCYL1_chr1_110551654_ENST00000369799_length(amino acids)=1255AA_BP=765
MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGE
YLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP
AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVV
GGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVL
PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVSAESSSSMNSNTPLVRITTRLS
STADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIG
KHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNV
LVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGHRM
DKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEQIQFADDMQEFTKFPTKTGRRSLSRSISQSSTDSYSSAASYTDSS
DDEVSPREKQQTNSKGSSNFCVKNIKQAEFGRREIEIAEQDMSALISLRKRAQGEKPLAGAKIVGCTHITAQTAVLIETLCALGAQCRWS
ACNIYSTQNEVAAALAEAGVAVFAWKGESEDDFWWCIDRCVNMDGWQANMILDDGGDLTHWVYKKYPNVFKKIRGIVEESVTGVHRLYQL
SKAGKLCVPAMNVNDSVTKQKFDNLYCCRESILDGLKRTTDVMFGGKQVVVCGYGEVGKGCCAALKALGAIVYITEIDPICALQACMDGF
RVVKLNEVIRQVDVVITCTGNKNVVTREHLDRMKNSCIVCNMGHSNTEIDVTSLRTPELTWERVRSQVDHVIWPDGKRVVLLAEGRLLNL

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>30273_30273_2_FGFR2-AHCYL1_FGFR2_chr10_123243212_ENST00000369056_AHCYL1_chr1_110551654_ENST00000369799_length(amino acids)=1258AA_BP=768
MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGE
YLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP
AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVV
GGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPK
QQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITT
RLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMK
MIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAA
RNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEG
HRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEQIQFADDMQEFTKFPTKTGRRSLSRSISQSSTDSYSSAASYT
DSSDDEVSPREKQQTNSKGSSNFCVKNIKQAEFGRREIEIAEQDMSALISLRKRAQGEKPLAGAKIVGCTHITAQTAVLIETLCALGAQC
RWSACNIYSTQNEVAAALAEAGVAVFAWKGESEDDFWWCIDRCVNMDGWQANMILDDGGDLTHWVYKKYPNVFKKIRGIVEESVTGVHRL
YQLSKAGKLCVPAMNVNDSVTKQKFDNLYCCRESILDGLKRTTDVMFGGKQVVVCGYGEVGKGCCAALKALGAIVYITEIDPICALQACM
DGFRVVKLNEVIRQVDVVITCTGNKNVVTREHLDRMKNSCIVCNMGHSNTEIDVTSLRTPELTWERVRSQVDHVIWPDGKRVVLLAEGRL

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>30273_30273_3_FGFR2-AHCYL1_FGFR2_chr10_123243212_ENST00000369061_AHCYL1_chr1_110551654_ENST00000369799_length(amino acids)=1179AA_BP=689
MKALRVVHARRGSVQMGLTSTWRYGRGPGIGTVTMVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGE
SLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSE
NSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENE
YGSINHTYHLDVVAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSM
NSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDL
SDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLA
SQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIP
VEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEQIQFADDMQEFTKFPTKTGRRSLSRSISQSS
TDSYSSAASYTDSSDDEVSPREKQQTNSKGSSNFCVKNIKQAEFGRREIEIAEQDMSALISLRKRAQGEKPLAGAKIVGCTHITAQTAVL
IETLCALGAQCRWSACNIYSTQNEVAAALAEAGVAVFAWKGESEDDFWWCIDRCVNMDGWQANMILDDGGDLTHWVYKKYPNVFKKIRGI
VEESVTGVHRLYQLSKAGKLCVPAMNVNDSVTKQKFDNLYCCRESILDGLKRTTDVMFGGKQVVVCGYGEVGKGCCAALKALGAIVYITE
IDPICALQACMDGFRVVKLNEVIRQVDVVITCTGNKNVVTREHLDRMKNSCIVCNMGHSNTEIDVTSLRTPELTWERVRSQVDHVIWPDG
KRVVLLAEGRLLNLSCSTVPTFVLSITATTQALALIELYNAPEGRYKQDVYLLPKKMDEYVASLHLPSFDAHLTELTDDQAKYLGLNKNG

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:123243212/chr1:110551654)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR2

P21802

AHCYL1

O43865

FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}.FUNCTION: Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate, competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. Promotes the formation of contact points between the endoplasmic reticulum (ER) and mitochondria, facilitating transfer of Ca(2+) from the ER to mitochondria (PubMed:27995898). Under normal cellular conditions, functions cooperatively with BCL2L10 to limit ITPR1-mediated Ca(2+) release but, under apoptotic stress conditions, dephosphorylated which promotes dissociation of both AHCYL1 and BCL2L10 from mitochondria-associated endoplasmic reticulum membranes, inhibits BCL2L10 interaction with ITPR1 and leads to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898). In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates from ITPR1 to interact with CFTR and SLC26A6, mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity). {ECO:0000250|UniProtKB:B5DFN2, ECO:0000250|UniProtKB:Q80SW1, ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:16793548, ECO:0000269|PubMed:18829453, ECO:0000269|PubMed:19224921, ECO:0000269|PubMed:20584908, ECO:0000269|PubMed:25237103, ECO:0000269|PubMed:27995898}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617154_247765.0820.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617256_358765.0820.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-161725_125765.0820.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718154_247765.0786.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718256_358765.0786.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-171825_125765.0786.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516154_247650.0705.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516256_358650.0705.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-151625_125650.0705.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617154_247678.0708.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617256_358678.0708.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-161725_125678.0708.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718154_247767.0822.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718256_358767.0822.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-171825_125767.0822.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718481_770767.0822.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617154_247679.0681.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617256_358679.0681.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-161725_125679.0681.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617154_247768.0770.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617256_358768.0770.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-161725_125768.0770.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617481_770768.0770.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516154_247651.0706.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516256_358651.0706.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-151625_125651.0706.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415154_247655.0710.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415256_358655.0710.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-141525_125655.0710.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718154_247768.0823.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718256_358768.0823.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-171825_125768.0823.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718481_770768.0823.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617487_495765.0820.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617565_567765.0820.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718487_495765.0786.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718565_567765.0786.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516487_495650.0705.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516565_567650.0705.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617487_495678.0708.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617565_567678.0708.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718487_495767.0822.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718565_567767.0822.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617487_495679.0681.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617565_567679.0681.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617487_495768.0770.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617565_567768.0770.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516487_495651.0706.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516565_567651.0706.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415487_495655.0710.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415565_567655.0710.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718487_495768.0823.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718565_567768.0823.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617161_178765.0820.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718161_178765.0786.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516161_178650.0705.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617161_178678.0708.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718161_178767.0822.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617161_178679.0681.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617161_178768.0770.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516161_178651.0706.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415161_178655.0710.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718161_178768.0823.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-161722_377765.0820.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-171822_377765.0786.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-151622_377650.0705.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-161722_377678.0708.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-171822_377767.0822.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-161722_377679.0681.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-161722_377768.0770.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-151622_377651.0706.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-141522_377655.0710.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-171822_377768.0823.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617378_398765.0820.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718378_398765.0786.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516378_398650.0705.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617378_398678.0708.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718378_398767.0822.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617378_398679.0681.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617378_398768.0770.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516378_398651.0706.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415378_398655.0710.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718378_398768.0823.0TransmembraneHelical
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000359172017318_3220484.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000359172017397_3990484.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000369799017318_32240.0531.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000369799017397_39940.0531.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000393614017318_3220484.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000393614017397_3990484.0Nucleotide bindingNAD
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000359172017281_4480484.0RegionNAD binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000359172017520_5300484.0RegionPDZ-binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST0000035917201765_920484.0RegionPEST
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000369799017281_44840.0531.0RegionNAD binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000369799017520_53040.0531.0RegionPDZ-binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST0000036979901765_9240.0531.0RegionPEST
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000393614017281_4480484.0RegionNAD binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST00000393614017520_5300484.0RegionPDZ-binding
TgeneAHCYL1chr10:123243212chr1:110551654ENST0000039361401765_920484.0RegionPEST

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617481_770765.0820.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718481_770765.0786.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516481_770650.0705.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617481_770678.0708.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17154_2470255.0DomainNote=Ig-like C2-type 2
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17256_3580255.0DomainNote=Ig-like C2-type 3
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-1725_1250255.0DomainNote=Ig-like C2-type 1
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17481_7700255.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617481_770679.0681.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516481_770651.0706.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415481_770655.0710.0DomainProtein kinase
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17487_4950255.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17565_5670255.0Nucleotide bindingATP
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17161_1780255.0RegionNote=Heparin-binding
HgeneFGFR2chr10:123243212chr1:110551654ENST00000346997-1617399_821765.0820.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000351936-1718399_821765.0786.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000356226-1516399_821650.0705.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000357555-1617399_821678.0708.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000358487-1718399_821767.0822.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-1722_3770255.0Topological domainExtracellular
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17399_8210255.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000360144-1617399_821679.0681.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369056-1617399_821768.0770.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369060-1516399_821651.0706.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000369061-1415399_821655.0710.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000457416-1718399_821768.0823.0Topological domainCytoplasmic
HgeneFGFR2chr10:123243212chr1:110551654ENST00000359354-17378_3980255.0TransmembraneHelical


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
FGFR2_pLDDT.png
all structure
all structure
AHCYL1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
FGFR2
AHCYL1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to FGFR2-AHCYL1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to FGFR2-AHCYL1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR2C2931196Craniofacial dysostosis type 123CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0220658Pfeiffer Syndrome21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0001193Apert syndrome19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0795998JACKSON-WEISS SYNDROME10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0175699Saethre-Chotzen Syndrome8CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFGFR2C1852406Cutis Gyrata Syndrome of Beare And Stevenson8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C2936791Antley-Bixler Syndrome, Autosomal Dominant7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C1510455Acrocephalosyndactylia6CTD_human;ORPHANET
HgeneFGFR2C0265269Lacrimoauriculodentodigital syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0010278Craniosynostosis4CTD_human;GENOMICS_ENGLAND
HgeneFGFR2C1863389Apert-Crouzon Disease4CTD_human
HgeneFGFR2C1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0006142Malignant neoplasm of breast3CTD_human;UNIPROT
HgeneFGFR2C0030044Acrocephaly3CTD_human
HgeneFGFR2C0036341Schizophrenia3PSYGENET
HgeneFGFR2C0221356Brachycephaly3CTD_human
HgeneFGFR2C0265534Scaphycephaly3CTD_human
HgeneFGFR2C0265535Trigonocephaly3CTD_human
HgeneFGFR2C0376634Craniofacial Abnormalities3CTD_human
HgeneFGFR2C0678222Breast Carcinoma3CTD_human
HgeneFGFR2C1257931Mammary Neoplasms, Human3CTD_human
HgeneFGFR2C1458155Mammary Neoplasms3CTD_human
HgeneFGFR2C1833340Synostotic Posterior Plagiocephaly3CTD_human
HgeneFGFR2C1860819Metopic synostosis3CTD_human
HgeneFGFR2C2931150Synostotic Anterior Plagiocephaly3CTD_human
HgeneFGFR2C3281247BENT BONE DYSPLASIA SYNDROME3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C4551902Craniosynostosis, Type 13CTD_human
HgeneFGFR2C4704874Mammary Carcinoma, Human3CTD_human
HgeneFGFR2C0008925Cleft Palate2CTD_human
HgeneFGFR2C0011570Mental Depression2PSYGENET
HgeneFGFR2C0011581Depressive disorder2PSYGENET
HgeneFGFR2C0024623Malignant neoplasm of stomach2CGI;CTD_human
HgeneFGFR2C0038356Stomach Neoplasms2CGI;CTD_human
HgeneFGFR2C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneFGFR2C1837218Cleft palate, isolated2CTD_human
HgeneFGFR2C0000772Multiple congenital anomalies1CTD_human
HgeneFGFR2C0003090Ankylosis1CTD_human
HgeneFGFR2C0005586Bipolar Disorder1PSYGENET
HgeneFGFR2C0008924Cleft upper lip1CTD_human
HgeneFGFR2C0010273Craniofacial Dysostosis1CTD_human
HgeneFGFR2C0011757Developmental Coordination Disorder1CTD_human
HgeneFGFR2C0014170Endometrial Neoplasms1CTD_human
HgeneFGFR2C0018553Hamartoma Syndrome, Multiple1CTD_human
HgeneFGFR2C0020796Profound Mental Retardation1CTD_human
HgeneFGFR2C0023890Liver Cirrhosis1CTD_human
HgeneFGFR2C0024121Lung Neoplasms1CTD_human
HgeneFGFR2C0025363Mental Retardation, Psychosocial1CTD_human
HgeneFGFR2C0026613Motor Skills Disorders1CTD_human
HgeneFGFR2C0033975Psychotic Disorders1PSYGENET
HgeneFGFR2C0037268Skin Abnormalities1CTD_human
HgeneFGFR2C0037274Dermatologic disorders1CTD_human
HgeneFGFR2C0038219Status Dysraphicus1CTD_human
HgeneFGFR2C0040427Tooth Abnormalities1CTD_human
HgeneFGFR2C0080178Spina Bifida1CTD_human
HgeneFGFR2C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR2C0206698Cholangiocarcinoma1CTD_human
HgeneFGFR2C0206762Limb Deformities, Congenital1CTD_human
HgeneFGFR2C0239946Fibrosis, Liver1CTD_human
HgeneFGFR2C0242379Malignant neoplasm of lung1CTD_human
HgeneFGFR2C0265326Bannayan-Riley-Ruvalcaba Syndrome1CTD_human
HgeneFGFR2C0266508Rachischisis1CTD_human
HgeneFGFR2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneFGFR2C0349204Nonorganic psychosis1PSYGENET
HgeneFGFR2C0391826Lhermitte-Duclos disease1CTD_human
HgeneFGFR2C0476089Endometrial Carcinoma1CGI;CTD_human
HgeneFGFR2C0524730Odontome1CTD_human
HgeneFGFR2C0699791Stomach Carcinoma1CGI;GENOMICS_ENGLAND
HgeneFGFR2C0917816Mental deficiency1CTD_human
HgeneFGFR2C1450010Plagiocephaly, Nonsynostotic1CTD_human
HgeneFGFR2C1860042Antley-Bixler Syndrome with Disordered Steroidogenesis1CTD_human
HgeneFGFR2C1867564SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY1GENOMICS_ENGLAND
HgeneFGFR2C1959582PTEN Hamartoma Tumor Syndrome1CTD_human
HgeneFGFR2C2350233Antley-Bixler Syndrome Phenotype1CTD_human
HgeneFGFR2C3267076Familial scaphocephaly syndrome1GENOMICS_ENGLAND
HgeneFGFR2C3714756Intellectual Disability1CTD_human
HgeneFGFR2C3805278Extrahepatic Cholangiocarcinoma1CTD_human