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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:RAPGEF2-C4orf45 (FusionGDB2 ID:71770)

Fusion Gene Summary for RAPGEF2-C4orf45

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF2-C4orf45
Fusion gene ID: 71770
HgeneTgene
Gene symbol

RAPGEF2

C4orf45

Gene ID

9693

152940

Gene nameRap guanine nucleotide exchange factor 2chromosome 4 open reading frame 45
SynonymsCNrasGEF|NRAPGEP|PDZ-GEF1|PDZGEF1|RA-GEF|RA-GEF-1|RAGEF|Rap-GEP|nRap GEP-
Cytomap

4q32.1

4q32.1

Type of geneprotein-codingprotein-coding
Descriptionrap guanine nucleotide exchange factor 2PDZ domain containing guanine nucleotide exchange factor (GEF) 1PDZ domain-containing guanine nucleotide exchange factor 1RA(Ras/Rap1A-associating)-GEFRap guanine nucleotide exchange factor (GEF) 2cyclic nucleouncharacterized protein C4orf45
Modification date2020031320200313
UniProtAcc.

Q96LM5

Ensembl transtripts involved in fusion geneENST00000504604, ENST00000264431, 
ENST00000434826, ENST00000508011, 
Fusion gene scores* DoF score10 X 9 X 5=4501 X 1 X 1=1
# samples 101
** MAII scorelog2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RAPGEF2 [Title/Abstract] AND C4orf45 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAPGEF2(160268150)-C4orf45(159814869), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneRAPGEF2

GO:0007186

G protein-coupled receptor signaling pathway

23800469

HgeneRAPGEF2

GO:0007218

neuropeptide signaling pathway

23800469

HgeneRAPGEF2

GO:0008285

negative regulation of cell proliferation

16272156

HgeneRAPGEF2

GO:0019933

cAMP-mediated signaling

23800469

HgeneRAPGEF2

GO:0031175

neuron projection development

23800469

HgeneRAPGEF2

GO:0043547

positive regulation of GTPase activity

10548487|10608844|10801446|11359771|16272156|17724123|23800469

HgeneRAPGEF2

GO:0043950

positive regulation of cAMP-mediated signaling

12391161

HgeneRAPGEF2

GO:0045860

positive regulation of protein kinase activity

11359771|23800469

HgeneRAPGEF2

GO:0050774

negative regulation of dendrite morphogenesis

16272156

HgeneRAPGEF2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

16272156|23800469

HgeneRAPGEF2

GO:0071320

cellular response to cAMP

10801446|16272156|21840392|23800469

HgeneRAPGEF2

GO:0071321

cellular response to cGMP

10801446

HgeneRAPGEF2

GO:0071880

adenylate cyclase-activating adrenergic receptor signaling pathway

12391161

HgeneRAPGEF2

GO:2000481

positive regulation of cAMP-dependent protein kinase activity

16272156

HgeneRAPGEF2

GO:2000670

positive regulation of dendritic cell apoptotic process

16272156


check buttonFusion gene breakpoints across RAPGEF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across C4orf45 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4PRADTCGA-G9-6373-01ARAPGEF2chr4

160268150

+C4orf45chr4

159814869

-
ChimerDB4PRADTCGA-G9-6373RAPGEF2chr4

160268150

+C4orf45chr4

159814869

-
ChimerDB4PRADTCGA-G9-6373-01ARAPGEF2chr4

160268150

-C4orf45chr4

159814869

-


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Fusion Gene ORF analysis for RAPGEF2-C4orf45

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
intron-3CDSENST00000504604ENST00000434826RAPGEF2chr4

160268150

+C4orf45chr4

159814869

-
intron-5UTRENST00000504604ENST00000508011RAPGEF2chr4

160268150

+C4orf45chr4

159814869

-
In-frameENST00000264431ENST00000434826RAPGEF2chr4

160268150

+C4orf45chr4

159814869

-
5CDS-5UTRENST00000264431ENST00000508011RAPGEF2chr4

160268150

+C4orf45chr4

159814869

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000264431RAPGEF2chr4160268150+ENST00000434826C4orf45chr4159814869-4232364841936791086

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
ENST00000264431ENST00000434826RAPGEF2chr4160268150+C4orf45chr4159814869-0.0014071510.9985928

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Fusion Genomic Features for RAPGEF2-C4orf45


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RAPGEF2-C4orf45


check button Go to

FGviewer for the breakpoints of chr4:160268150-chr4:159814869

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.C4orf45

Q96LM5

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+1924267_3801076.33333333333331500.0DomainN-terminal Ras-GEF
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+1924385_4701076.33333333333331500.0DomainPDZ
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+1924606_6921076.33333333333331500.0DomainRas-associating
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+1924717_9441076.33333333333331500.0DomainRas-GEF
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+1924135_2541076.33333333333331500.0Nucleotide bindingNote=cNMP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAPGEF2chr4:160268150chr4:159814869ENST00000264431+19241108_11661076.33333333333331500.0Compositional biasNote=Ser-rich


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Fusion Gene Sequence for RAPGEF2-C4orf45


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000264431_ENST00000434826_TCGA-G9-6373-01A_RAPGEF2_chr4_160268150_+_C4orf45_chr4_159814869_length(transcript)=4232nt_BP=3648nt
GTGTTAAGCCTTTTTGAGGGGAGTCTGTGTGCAGTCAGCCATTTTAGCTTTTTTCTTTTTTTTTTTTTTTTCCTCTCCTTTTCTTTTGCC
TCTTGTTCTTCAATCTCAGAAATGATCTTGTTCTCTTGGAAGACTGAGAGCTGTGTGAGGTTTTCTCAGTCTTGTCATAGCCTAGGATGG
TTAGAGTTTCAATGTTATAAAAATGGAGACGAACACTGTTGTTCGGATTCCTTTTCTGGTCTACAAGTGTGAAGGGTTTTTAAGCTTACC
AGTAGTGACACTTTAAGCTGCAGCTTGGTTTTCCCTCCTCCCTTTTTTTTTTTCCTTTTTCTTTTAATTTAATGCTGTAGAGGGTGACTT
GCCATCGTGAGAGATTGGTACATGATGTGTAAATTCAGTTCAGCATATGTTTCTTCATTATGAAACCACTAGCAATCCCAGCTAACCATG
GAGTTATGGGCCAGCAGGAGAAACACTCACTTCCTGCAGATTTCACAAAACTGCATCTTACTGACAGTCTCCACCCACAGGTGACCCACG
TTTCTTCTAGCCATTCAGGATGTAGTATCACTAGTGATTCTGGGAGCAGCAGTCTTTCTGATATCTACCAGGCCACAGAAAGCGAGGCTG
GTGATATGGACCTGAGTGGGTTGCCAGAAACAGCAGTGGATTCCGAAGACGACGACGATGAAGAAGACATTGAGAGAGCATCAGATCCTC
TGATGAGCAGGGACATTGTGAGAGACTGCCTAGAGAAGGACCCAATTGACCGGACAGATGATGACATTGAACAACTCTTGGAATTTATGC
ACCAGTTGCCTGCTTTTGCCAATATGACAATGTCAGTGAGGCGAGAACTCTGTGCTGTGATGGTGTTCGCAGTGGTGGAAAGAGCAGGGA
CCATAGTGTTAAATGATGGTGAAGAGCTGGACTCCTGGTCAGTGATTCTCAATGGATCTGTGGAAGTGACTTATCCAGATGGAAAAGCAG
AAATACTGTGCATGGGAAATAGTTTTGGTGTCTCTCCTACCATGGACAAAGAATACATGAAAGGAGTGATGAGAACAAAGGTGGATGACT
GCCAGTTTGTCTGCATAGCCCAGCAAGATTACTGCCGTATTCTCAATCAAGTAGAAAAGAACATGCAAAAAGTTGAAGAGGAAGGAGAGA
TTGTTATGGTGAAAGAACACCGAGAACTTGATCGAACTGGAACAAGAAAGGGACACATTGTCATCAAGGGTACCTCAGAAAGGTTAACAA
TGCATTTGGTGGAAGAGCATTCAGTAGTAGATCCAACATTCATAGAAGACTTTCTGTTGACCTATAGGACTTTTCTTTCTAGCCCAATGG
AAGTGGGCAAAAAGTTATTGGAGTGGTTTAATGACCCGAGCCTCAGGGATAAGGTTACACGGGTAGTATTATTGTGGGTAAATAATCACT
TCAATGACTTTGAAGGAGATCCTGCAATGACTCGATTTTTAGAAGAATTTGAAAACAATCTGGAAAGAGAGAAAATGGGTGGACACCTAA
GGCTGTTGAATATCGCGTGTGCTGCTAAAGCAAAAAGAAGATTGATGACGTTAACAAAACCATCCCGAGAAGCTCCTTTGCCTTTTATCT
TACTTGGAGGCTCTGAGAAGGGATTTGGAATCTTTGTTGACAGTGTAGATTCAGGTAGCAAAGCAACTGAAGCAGGCTTGAAACGGGGGG
ATCAGATATTAGAAGTAAATGGCCAAAACTTTGAAAACATTCAGCTGTCAAAAGCTATGGAAATTCTTAGAAATAACACACATTTATCTA
TCACTGTGAAAACCAATTTATTTGTATTTAAAGAACTTCTAACAAGATTGTCAGAAGAGAAAAGAAATGGTGCCCCCCACCTTCCTAAAA
TTGGTGACATTAAAAAGGCCAGTCGCTACTCCATTCCAGATCTTGCTGTAGATGTAGAACAGGTGATAGGACTTGAAAAAGTGAACAAAA
AAAGTAAAGCCAACACTGTGGGAGGAAGGAACAAGCTGAAAAAGATACTCGACAAGACTCGGATCAGTATCTTGCCACAGAAACCATACA
ATGATATTGGGATTGGTCAGTCTCAAGATGACAGCATAGTAGGATTAAGGCAGACAAAGCACATCCCAACTGCATTGCCTGTCAGTGGAA
CCTTATCATCCAGTAATCCTGATTTATTGCAGTCACATCATCGCATTTTAGACTTCAGTGCTACTCCTGACTTGCCAGATCAAGTGCTAA
GGGTTTTTAAGGCTGATCAGCAAAGCCGCTACATCATGATCAGTAAGGACACTACAGCAAAGGAAGTGGTCATTCAGGCTATCAGGGAGT
TTGCTGTTACTGCCACCCCGGATCAATATTCACTATGTGAGGTCTCTGTCACACCTGAGGGAGTAATCAAACAAAGAAGACTTCCAGATC
AGCTTTCCAAACTTGCAGACAGAATACAACTGAGTGGAAGGTATTATCTGAAAAACAACATGGAAACAGAAACTCTTTGTTCAGATGAAG
ATGCTCAGGAGTTGTTGAGAGAGAGTCAAATTTCCCTCCTTCAGCTCAGCACTGTGGAAGTTGCAACACAGCTCTCTATGCGAAATTTTG
AACTCTTTCGCAACATTGAACCTACTGAATATATAGATGATTTATTTAAACTCAGATCAAAAACCAGCTGTGCCAACCTGAAGAGATTTG
AAGAAGTCATTAACCAGGAAACATTTTGGGTAGCATCTGAAATTCTCAGAGAAACAAACCAGCTGAAGAGGATGAAGATCATTAAGCATT
TCATCAAGATAGCACTGCACTGTAGGGAATGCAAGAATTTTAACTCAATGTTTGCAATCATCAGTGGCCTAAACCTGGCACCAGTGGCAA
GACTGCGAACGACCTGGGAGAAACTTCCCAATAAATACGAAAAACTATTTCAAGATCTCCAAGACCTGTTTGATCCTTCCAGAAACATGG
CAAAATATCGTAATGTTCTCAATAGTCAAAATCTACAACCTCCCATAATCCCTCTATTCCCAGTTATCAAAAAGGATCTCACCTTCCTTC
ACGAAGGAAATGACTCAAAAGTAGACGGGCTGGTCAATTTTGAGAAGCTAAGGATGATTGCAAAAGAAATTCGTCACGTTGGCCGAATGG
CTTCAGTGAACATGGACCCTGCCCTCATGTTCAGGACTCGGAAGAAGAAATGGCGGAGTTTGGGGTCTCTCAGCCAGGGTAGTACAAATG
CAACAGTGCTAGATGTTGCTCAGACAGGTGGTCATAAAAAGCGGGTACGTCGTAGTTCCTTTCTCAATGCCAAAAAGCTTTATGAAGATG
CCCAAATGGCTCGAAAAGTGAAGCAGTACCTTTCCAATTTGGAGCTAGAAATGGACGAGGAGAGTCTTCAGACATTATCTCTGCAGTGTG
AGCCAGCAACCAACACATTGCCTAAGAATCCTGGTGACAAAAAGCCTGTCAAATCCGAGACCTCTCCAGTAGCTCCAAGGGCAGGGTCAC
AACAGAAAGCTCAGTCCCTGCCACAGCCCCAGCAGCAGCCACCACCAGCACATAAAATCAACCAGGGACTACAGGTTCCCGCCGTGTCCC
TTTATCCTTCACGGAAGAAAGTGCCCGTAAAGGATCTCCCACCTTTTGAAAAGGAAACATTAACCTCTAAATCAGCATAACTCAACCTGC
TTTTAGAAGGAGAAACTGCCTACTACTGTATAACAAAAAATAAGATCATAATAATCCACAAGTGCTTCTCATATTGCCCCAGGACAGATG
TCTTGCAAGAGTACGCTTCAGCTTAAAGCCCAAATAAACAGTTTGGAAAAAAGGTGTTGTCAGTCTTTGCAACCATTAATATTGTTTCAT
GAAACTAATTGTTATTGACTATCATACTAATAGTAGCTGTTTACTGAGTGCTTATAACATCTAACACTATTCCAAGTGCTTTACATTCAT
TCTCTAATATAATTTCATAACCATAGGAGATAGGTTCTATTATTTCCCCAGCTTTGCAGATAAGGAAATTAAGGCTTTGAAAGAGTACAT
GGTTAGGAAGTAGCAGAACTTGGATTTGACCCCAGGTTATGGGGCTCTAAAGCTAACATATATGGCTTTTAAAGTATTTTATAATATTGG
CATGGTGCTTTAGCAGTAAAAAGCAGTTATATCCCTAATTTTCAGAAGATTCTCACAGCACCCTTGTTGAACAGGTACTATCTTTCTTTT

>In-frame_ENST00000264431_ENST00000434826_TCGA-G9-6373-01A_RAPGEF2_chr4_160268150_+_C4orf45_chr4_159814869_length(amino acids)=1086AA_start in transcript=419_stop in transcript=3679
MKPLAIPANHGVMGQQEKHSLPADFTKLHLTDSLHPQVTHVSSSHSGCSITSDSGSSSLSDIYQATESEAGDMDLSGLPETAVDSEDDDD
EEDIERASDPLMSRDIVRDCLEKDPIDRTDDDIEQLLEFMHQLPAFANMTMSVRRELCAVMVFAVVERAGTIVLNDGEELDSWSVILNGS
VEVTYPDGKAEILCMGNSFGVSPTMDKEYMKGVMRTKVDDCQFVCIAQQDYCRILNQVEKNMQKVEEEGEIVMVKEHRELDRTGTRKGHI
VIKGTSERLTMHLVEEHSVVDPTFIEDFLLTYRTFLSSPMEVGKKLLEWFNDPSLRDKVTRVVLLWVNNHFNDFEGDPAMTRFLEEFENN
LEREKMGGHLRLLNIACAAKAKRRLMTLTKPSREAPLPFILLGGSEKGFGIFVDSVDSGSKATEAGLKRGDQILEVNGQNFENIQLSKAM
EILRNNTHLSITVKTNLFVFKELLTRLSEEKRNGAPHLPKIGDIKKASRYSIPDLAVDVEQVIGLEKVNKKSKANTVGGRNKLKKILDKT
RISILPQKPYNDIGIGQSQDDSIVGLRQTKHIPTALPVSGTLSSSNPDLLQSHHRILDFSATPDLPDQVLRVFKADQQSRYIMISKDTTA
KEVVIQAIREFAVTATPDQYSLCEVSVTPEGVIKQRRLPDQLSKLADRIQLSGRYYLKNNMETETLCSDEDAQELLRESQISLLQLSTVE
VATQLSMRNFELFRNIEPTEYIDDLFKLRSKTSCANLKRFEEVINQETFWVASEILRETNQLKRMKIIKHFIKIALHCRECKNFNSMFAI
ISGLNLAPVARLRTTWEKLPNKYEKLFQDLQDLFDPSRNMAKYRNVLNSQNLQPPIIPLFPVIKKDLTFLHEGNDSKVDGLVNFEKLRMI
AKEIRHVGRMASVNMDPALMFRTRKKKWRSLGSLSQGSTNATVLDVAQTGGHKKRVRRSSFLNAKKLYEDAQMARKVKQYLSNLELEMDE
ESLQTLSLQCEPATNTLPKNPGDKKPVKSETSPVAPRAGSQQKAQSLPQPQQQPPPAHKINQGLQVPAVSLYPSRKKVPVKDLPPFEKET

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Fusion Gene PPI Analysis for RAPGEF2-C4orf45


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


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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Related Drugs for RAPGEF2-C4orf45


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for RAPGEF2-C4orf45


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAPGEF2C0014550Myoclonic Epilepsy1CTD_human
HgeneRAPGEF2C0338478Idiopathic Myoclonic Epilepsy1CTD_human
HgeneRAPGEF2C0338479Symptomatic Myoclonic Epilepsy1CTD_human
HgeneRAPGEF2C0393695Early Childhood Epilepsy, Myoclonic1CTD_human
HgeneRAPGEF2C0393702Myoclonic Astatic Epilepsy1CTD_human
HgeneRAPGEF2C0393703Myoclonic Absence Epilepsy1CTD_human
HgeneRAPGEF2C0438414Myoclonic Encephalopathy1CTD_human
HgeneRAPGEF2C0751120Benign Infantile Myoclonic Epilepsy1CTD_human
HgeneRAPGEF2C0751122Infantile Severe Myoclonic Epilepsy1CTD_human
HgeneRAPGEF2C0917800Epilepsy, Myoclonic, Infantile1CTD_human