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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:EML4-CASK

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EML4-CASK
FusionPDB ID: 26456
FusionGDB2.0 ID: 26456
HgeneTgene
Gene symbol

EML4

CASK

Gene ID

27436

8573

Gene nameEMAP like 4calcium/calmodulin dependent serine protein kinase
SynonymsC2orf2|ELP120|EMAP-4|EMAPL4|ROPP120CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK
Cytomap

2p21

Xp11.4

Type of geneprotein-codingprotein-coding
Descriptionechinoderm microtubule-associated protein-like 4echinoderm microtubule associated protein like 4restrictedly overexpressed proliferation-associated proteinropp 120peripheral plasma membrane protein CASKcalcium/calmodulin-dependent serin protein kinasecalcium/calmodulin-dependent serine protein kinase (MAGUK family)calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinaseprotein lin
Modification date2020031320200327
UniProtAcc

Q9HC35

Q8WXE0

Ensembl transtripts involved in fusion geneENST idsENST00000482660, ENST00000318522, 
ENST00000401738, ENST00000402711, 
ENST00000453191, 
ENST00000318588, 
ENST00000361962, ENST00000378158, 
ENST00000378163, ENST00000378166, 
ENST00000421587, ENST00000442742, 
ENST00000378154, ENST00000472704, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score22 X 32 X 18=1267215 X 14 X 9=1890
# samples 4317
** MAII scorelog2(43/12672*10)=-4.88116377049015
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EML4 [Title/Abstract] AND CASK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EML4(42396776)-CASK(41420897), # samples:4
Anticipated loss of major functional domain due to fusion event.EML4-CASK 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.
EML4-CASK 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.
EML4-CASK 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.
EML4-CASK 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.
* 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
TgeneCASK

GO:0010839

negative regulation of keratinocyte proliferation

18664494


check buttonFusion gene breakpoints across EML4 (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 CASK (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
ChimerDB4GBMTCGA-06-0158-01AEML4chr2

42396776

-CASKchrX

41420897

-
ChimerDB4GBMTCGA-06-0158-01AEML4chr2

42396776

+CASKchrX

41420897

-
ChimerDB4GBMTCGA-06-0158EML4chr2

42396776

+CASKchrX

41420897

-


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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)
ENST00000318522EML4chr242396776+ENST00000421587CASKchrX41420897-69032872621416384
ENST00000318522EML4chr242396776+ENST00000318588CASKchrX41420897-69572872621470402
ENST00000318522EML4chr242396776+ENST00000361962CASKchrX41420897-69212872621434390
ENST00000318522EML4chr242396776+ENST00000378163CASKchrX41420897-26412872621485407
ENST00000318522EML4chr242396776+ENST00000378158CASKchrX41420897-22022872621434390
ENST00000318522EML4chr242396776+ENST00000378166CASKchrX41420897-18012872621470402
ENST00000318522EML4chr242396776+ENST00000442742CASKchrX41420897-14862872621401379
ENST00000402711EML4chr242396776+ENST00000421587CASKchrX41420897-69002842591413384
ENST00000402711EML4chr242396776+ENST00000318588CASKchrX41420897-69542842591467402
ENST00000402711EML4chr242396776+ENST00000361962CASKchrX41420897-69182842591431390
ENST00000402711EML4chr242396776+ENST00000378163CASKchrX41420897-26382842591482407
ENST00000402711EML4chr242396776+ENST00000378158CASKchrX41420897-21992842591431390
ENST00000402711EML4chr242396776+ENST00000378166CASKchrX41420897-17982842591467402
ENST00000402711EML4chr242396776+ENST00000442742CASKchrX41420897-14832842591398379
ENST00000401738EML4chr242396776+ENST00000421587CASKchrX41420897-67921761511305384
ENST00000401738EML4chr242396776+ENST00000318588CASKchrX41420897-68461761511359402
ENST00000401738EML4chr242396776+ENST00000361962CASKchrX41420897-68101761511323390
ENST00000401738EML4chr242396776+ENST00000378163CASKchrX41420897-25301761511374407
ENST00000401738EML4chr242396776+ENST00000378158CASKchrX41420897-20911761511323390
ENST00000401738EML4chr242396776+ENST00000378166CASKchrX41420897-16901761511359402
ENST00000401738EML4chr242396776+ENST00000442742CASKchrX41420897-13751761511290379

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
ENST00000318522ENST00000421587EML4chr242396776+CASKchrX41420897-0.0003777260.9996222
ENST00000318522ENST00000318588EML4chr242396776+CASKchrX41420897-0.0002251360.9997749
ENST00000318522ENST00000361962EML4chr242396776+CASKchrX41420897-0.0002690440.9997309
ENST00000318522ENST00000378163EML4chr242396776+CASKchrX41420897-0.0001479630.99985206
ENST00000318522ENST00000378158EML4chr242396776+CASKchrX41420897-0.0003421450.99965787
ENST00000318522ENST00000378166EML4chr242396776+CASKchrX41420897-0.0010163540.9989837
ENST00000318522ENST00000442742EML4chr242396776+CASKchrX41420897-0.0029488140.9970511
ENST00000402711ENST00000421587EML4chr242396776+CASKchrX41420897-0.0003777910.9996222
ENST00000402711ENST00000318588EML4chr242396776+CASKchrX41420897-0.0002252940.99977475
ENST00000402711ENST00000361962EML4chr242396776+CASKchrX41420897-0.0002692050.99973077
ENST00000402711ENST00000378163EML4chr242396776+CASKchrX41420897-0.0001480450.99985194
ENST00000402711ENST00000378158EML4chr242396776+CASKchrX41420897-0.0003456810.9996543
ENST00000402711ENST00000378166EML4chr242396776+CASKchrX41420897-0.0010035890.99899644
ENST00000402711ENST00000442742EML4chr242396776+CASKchrX41420897-0.0028446350.9971553
ENST00000401738ENST00000421587EML4chr242396776+CASKchrX41420897-0.0003642630.9996357
ENST00000401738ENST00000318588EML4chr242396776+CASKchrX41420897-0.0002160910.99978393
ENST00000401738ENST00000361962EML4chr242396776+CASKchrX41420897-0.0002581110.99974185
ENST00000401738ENST00000378163EML4chr242396776+CASKchrX41420897-0.0001407880.9998592
ENST00000401738ENST00000378158EML4chr242396776+CASKchrX41420897-0.0003193060.99968076
ENST00000401738ENST00000378166EML4chr242396776+CASKchrX41420897-0.0008514630.9991485
ENST00000401738ENST00000442742EML4chr242396776+CASKchrX41420897-0.0022678910.99773204

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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

>26456_26456_1_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000318588_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_2_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000361962_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_3_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000378158_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_4_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000378163_length(amino acids)=407AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYY
FVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKES

--------------------------------------------------------------

>26456_26456_5_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000378166_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_6_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000421587_length(amino acids)=384AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVFDQ
LDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHE
DAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDET

--------------------------------------------------------------

>26456_26456_7_EML4-CASK_EML4_chr2_42396776_ENST00000318522_CASK_chrX_41420897_ENST00000442742_length(amino acids)=379AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNADLVT
YEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYG
TKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRHLE

--------------------------------------------------------------

>26456_26456_8_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000318588_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_9_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000361962_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_10_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000378158_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_11_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000378163_length(amino acids)=407AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYY
FVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKES

--------------------------------------------------------------

>26456_26456_12_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000378166_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_13_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000421587_length(amino acids)=384AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVFDQ
LDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHE
DAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDET

--------------------------------------------------------------

>26456_26456_14_EML4-CASK_EML4_chr2_42396776_ENST00000401738_CASK_chrX_41420897_ENST00000442742_length(amino acids)=379AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNADLVT
YEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYG
TKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRHLE

--------------------------------------------------------------

>26456_26456_15_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000318588_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_16_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000361962_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_17_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000378158_length(amino acids)=390AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSIYVRAQF
EYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDK
YLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYL
EYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIIN

--------------------------------------------------------------

>26456_26456_18_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000378163_length(amino acids)=407AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYY
FVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKES

--------------------------------------------------------------

>26456_26456_19_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000378166_length(amino acids)=402AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHD
QMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQR

--------------------------------------------------------------

>26456_26456_20_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000421587_length(amino acids)=384AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVFDQ
LDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHE
DAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDET

--------------------------------------------------------------

>26456_26456_21_EML4-CASK_EML4_chr2_42396776_ENST00000402711_CASK_chrX_41420897_ENST00000442742_length(amino acids)=379AA_BP=7
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEYDPAKDDLIP
CKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNADLVT
YEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYG
TKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRHLE

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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/chr2:42396776/chrX:41420897)
- 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
EML4

Q9HC35

CASK

Q8WXE0

FUNCTION: Essential for the formation and stability of microtubules (MTs) (PubMed:16890222, PubMed:31409757). Required for the organization of the mitotic spindle and for the proper attachment of kinetochores to MTs (PubMed:25789526). Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression (PubMed:25789526). {ECO:0000269|PubMed:16890222, ECO:0000269|PubMed:25789526, ECO:0000269|PubMed:31409757}.

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
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526612_682527.3333333333334910.0DomainSH3
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526739_911527.3333333333334910.0DomainGuanylate kinase-like
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527612_682527.3333333333334927.0DomainSH3
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527739_911527.3333333333334927.0DomainGuanylate kinase-like
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527612_682527.3333333333334922.0DomainSH3
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527739_911527.3333333333334922.0DomainGuanylate kinase-like
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425612_682521.3333333333334898.0DomainSH3
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425739_911521.3333333333334898.0DomainGuanylate kinase-like
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526612_682527.3333333333334899.0DomainSH3
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526739_911527.3333333333334899.0DomainGuanylate kinase-like

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+1231_2498.333333333333334982.0RegionMicrotubule-binding
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+1221_2498.333333333333334924.0RegionMicrotubule-binding
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123259_2978.333333333333334982.0RepeatNote=WD 1
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123301_3488.333333333333334982.0RepeatNote=WD 2
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123356_3968.333333333333334982.0RepeatNote=WD 3
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123403_4388.333333333333334982.0RepeatNote=WD 4
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123445_4848.333333333333334982.0RepeatNote=WD 5
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123500_5388.333333333333334982.0RepeatNote=WD 6
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123543_5798.333333333333334982.0RepeatNote=WD 7
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123582_6218.333333333333334982.0RepeatNote=WD 8
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123625_6628.333333333333334982.0RepeatNote=WD 9
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123668_7048.333333333333334982.0RepeatNote=WD 10
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123711_7508.333333333333334982.0RepeatNote=WD 11
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123760_8188.333333333333334982.0RepeatNote=WD 12
HgeneEML4chr2:42396776chrX:41420897ENST00000318522+123825_8648.333333333333334982.0RepeatNote=WD 13
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122259_2978.333333333333334924.0RepeatNote=WD 1
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122301_3488.333333333333334924.0RepeatNote=WD 2
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122356_3968.333333333333334924.0RepeatNote=WD 3
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122403_4388.333333333333334924.0RepeatNote=WD 4
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122445_4848.333333333333334924.0RepeatNote=WD 5
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122500_5388.333333333333334924.0RepeatNote=WD 6
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122543_5798.333333333333334924.0RepeatNote=WD 7
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122582_6218.333333333333334924.0RepeatNote=WD 8
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122625_6628.333333333333334924.0RepeatNote=WD 9
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122668_7048.333333333333334924.0RepeatNote=WD 10
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122711_7508.333333333333334924.0RepeatNote=WD 11
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122760_8188.333333333333334924.0RepeatNote=WD 12
HgeneEML4chr2:42396776chrX:41420897ENST00000402711+122825_8648.333333333333334924.0RepeatNote=WD 13
TgeneCASKchr2:42396776chrX:41420897ENST00000378158152612_276527.3333333333334910.0DomainProtein kinase
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526343_398527.3333333333334910.0DomainL27 1
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526402_455527.3333333333334910.0DomainL27 2
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526489_564527.3333333333334910.0DomainPDZ
TgeneCASKchr2:42396776chrX:41420897ENST00000378163152712_276527.3333333333334927.0DomainProtein kinase
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527343_398527.3333333333334927.0DomainL27 1
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527402_455527.3333333333334927.0DomainL27 2
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527489_564527.3333333333334927.0DomainPDZ
TgeneCASKchr2:42396776chrX:41420897ENST00000378166152712_276527.3333333333334922.0DomainProtein kinase
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527343_398527.3333333333334922.0DomainL27 1
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527402_455527.3333333333334922.0DomainL27 2
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527489_564527.3333333333334922.0DomainPDZ
TgeneCASKchr2:42396776chrX:41420897ENST00000421587142512_276521.3333333333334898.0DomainProtein kinase
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425343_398521.3333333333334898.0DomainL27 1
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425402_455521.3333333333334898.0DomainL27 2
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425489_564521.3333333333334898.0DomainPDZ
TgeneCASKchr2:42396776chrX:41420897ENST00000442742152612_276527.3333333333334899.0DomainProtein kinase
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526343_398527.3333333333334899.0DomainL27 1
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526402_455527.3333333333334899.0DomainL27 2
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526489_564527.3333333333334899.0DomainPDZ
TgeneCASKchr2:42396776chrX:41420897ENST00000378158152618_26527.3333333333334910.0Nucleotide bindingATP
TgeneCASKchr2:42396776chrX:41420897ENST00000378163152718_26527.3333333333334927.0Nucleotide bindingATP
TgeneCASKchr2:42396776chrX:41420897ENST00000378166152718_26527.3333333333334922.0Nucleotide bindingATP
TgeneCASKchr2:42396776chrX:41420897ENST00000421587142518_26521.3333333333334898.0Nucleotide bindingATP
TgeneCASKchr2:42396776chrX:41420897ENST00000442742152618_26527.3333333333334899.0Nucleotide bindingATP
TgeneCASKchr2:42396776chrX:41420897ENST000003781581526305_315527.3333333333334910.0RegionNote=Calmodulin-binding
TgeneCASKchr2:42396776chrX:41420897ENST000003781631527305_315527.3333333333334927.0RegionNote=Calmodulin-binding
TgeneCASKchr2:42396776chrX:41420897ENST000003781661527305_315527.3333333333334922.0RegionNote=Calmodulin-binding
TgeneCASKchr2:42396776chrX:41420897ENST000004215871425305_315521.3333333333334898.0RegionNote=Calmodulin-binding
TgeneCASKchr2:42396776chrX:41420897ENST000004427421526305_315527.3333333333334899.0RegionNote=Calmodulin-binding


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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)
PDB file >>>823_EML4_42396776_CASK_41420897_ranked_0.pdbEML44239677642396776ENST00000442742CASKchrX41420897-
MDGFAGSLGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQ
PKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCT
WFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYY
FVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKES
407


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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.
EML4_pLDDT.png
all structure
all structure
CASK_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.
all structure


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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
EML4NEK6, ARL4D, ARIH2, ELAVL1, EML4, ILK, PRPS1, TUBB2A, TUBB2B, FBXW11, NTRK1, SPICE1, DCTN1, TFEB, Nek9, NUDC, EML1, FBXO28, TUBB3, CTAGE5, TUBB, TKT, PHKG2, NEK7, SKP1, EFTUD2, FGF11, MYC, CDK9, KIAA1429, ATG16L1, Bach1, N, HCVgp1, TUBA1B, DDRGK1, TP53, KIF2A, MAPRE1, MAPRE3, TRIM36, TUBA4A, WDR5, C15orf59, C1QTNF1, PABPN1L, BAG2, CAPSL, PRPS2, HSPA8, TUBB6, KXD1, ZNF174, GPS2, NEK9,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EML4all structure
CASK


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 EML4-CASK


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 EML4-CASK


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
HgeneEML4C0007131Non-Small Cell Lung Carcinoma6CTD_human
HgeneEML4C0027627Neoplasm Metastasis2CTD_human
HgeneEML4C0152013Adenocarcinoma of lung (disorder)2CTD_human
HgeneEML4C0006118Brain Neoplasms1CTD_human
HgeneEML4C0153633Malignant neoplasm of brain1CTD_human
HgeneEML4C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneEML4C0750974Brain Tumor, Primary1CTD_human
HgeneEML4C0750977Recurrent Brain Neoplasm1CTD_human
HgeneEML4C0750979Primary malignant neoplasm of brain1CTD_human
HgeneEML4C1527390Neoplasms, Intracranial1CTD_human