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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:AP3D1-KCTD19

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AP3D1-KCTD19
FusionPDB ID: 5277
FusionGDB2.0 ID: 5277
HgeneTgene
Gene symbol

AP3D1

KCTD19

Gene ID

8943

146212

Gene nameadaptor related protein complex 3 subunit delta 1potassium channel tetramerization domain containing 19
SynonymsADTD|HPS10|hBLVR-
Cytomap

19p13.3

16q22.1

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit delta-1AP-3 complex delta subunit, partial CDSadapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitdelta adaptinsubunit of putative vesicle coat adaptor complex AP-3BTB/POZ domain-containing protein KCTD19potassium channel tetramerisation domain containing 19testicular tissue protein Li 101
Modification date2020031320200313
UniProtAcc

O14617

Q17RG1

Ensembl transtripts involved in fusion geneENST idsENST00000345016, ENST00000350812, 
ENST00000355272, ENST00000356926, 
ENST00000590683, 		ENST00000562860, 
ENST00000304372, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 16 X 10=25605 X 3 X 4=60
# samples 194
** MAII scorelog2(19/2560*10)=-3.75207248655641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AP3D1 [Title/Abstract] AND KCTD19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AP3D1(2138618)-KCTD19(67354788), # samples:2
Anticipated loss of major functional domain due to fusion event.AP3D1-KCTD19 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.
AP3D1-KCTD19 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.
AP3D1-KCTD19 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.
AP3D1-KCTD19 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

check buttonFusion gene breakpoints across AP3D1 (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 KCTD19 (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
ChimerDB4PRADTCGA-VP-A875-01AAP3D1chr19

2137726

-KCTD19chr16

67354788

-
ChimerDB4PRADTCGA-VP-A875-01AAP3D1chr19

2138618

-KCTD19chr16

67354788

-
ChimerDB4PRADTCGA-VP-A875AP3D1chr19

2138618

-KCTD19chr16

67354788

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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)
ENST00000355272AP3D1chr192138618-ENST00000304372KCTD19chr1667354788-32983999031761028
ENST00000356926AP3D1chr192138618-ENST00000304372KCTD19chr1667354788-331441510631921028
ENST00000350812AP3D1chr192138618-ENST00000304372KCTD19chr1667354788-32973988931751028
ENST00000345016AP3D1chr192138618-ENST00000304372KCTD19chr1667354788-332342411532011028
ENST00000355272AP3D1chr192137726-ENST00000304372KCTD19chr1667354788-33794809032571055
ENST00000356926AP3D1chr192137726-ENST00000304372KCTD19chr1667354788-339549610632731055
ENST00000350812AP3D1chr192137726-ENST00000304372KCTD19chr1667354788-33784798932561055
ENST00000345016AP3D1chr192137726-ENST00000304372KCTD19chr1667354788-340450511532821055

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
ENST00000355272ENST00000304372AP3D1chr192138618-KCTD19chr1667354788-0.0050574610.9949425
ENST00000356926ENST00000304372AP3D1chr192138618-KCTD19chr1667354788-0.0051875810.99481237
ENST00000350812ENST00000304372AP3D1chr192138618-KCTD19chr1667354788-0.0050735970.99492645
ENST00000345016ENST00000304372AP3D1chr192138618-KCTD19chr1667354788-0.0052535210.9947465
ENST00000355272ENST00000304372AP3D1chr192137726-KCTD19chr1667354788-0.0056789450.994321
ENST00000356926ENST00000304372AP3D1chr192137726-KCTD19chr1667354788-0.0058365090.99416345
ENST00000350812ENST00000304372AP3D1chr192137726-KCTD19chr1667354788-0.0056945070.99430543
ENST00000345016ENST00000304372AP3D1chr192137726-KCTD19chr1667354788-0.0059266310.99407333

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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

>5277_5277_1_AP3D1-KCTD19_AP3D1_chr19_2137726_ENST00000345016_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1055AA_BP=130
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSES
QRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSE
FPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSN
IDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGN
GVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTL
QTLLKYPELLSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESE
NEEAFSIRRLHVVTEGPGSLVEFSRDTKETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHC
RGLCTNPGHWGSHPESPPKKKCTTINLTQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPS
TSAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGS
DGFCMFFEDSIIYTTEMDNLRHTTPTASPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISP

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>5277_5277_2_AP3D1-KCTD19_AP3D1_chr19_2137726_ENST00000350812_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1055AA_BP=130
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSES
QRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSE
FPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSN
IDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGN
GVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTL
QTLLKYPELLSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESE
NEEAFSIRRLHVVTEGPGSLVEFSRDTKETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHC
RGLCTNPGHWGSHPESPPKKKCTTINLTQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPS
TSAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGS
DGFCMFFEDSIIYTTEMDNLRHTTPTASPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISP

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>5277_5277_3_AP3D1-KCTD19_AP3D1_chr19_2137726_ENST00000355272_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1055AA_BP=130
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSES
QRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSE
FPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSN
IDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGN
GVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTL
QTLLKYPELLSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESE
NEEAFSIRRLHVVTEGPGSLVEFSRDTKETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHC
RGLCTNPGHWGSHPESPPKKKCTTINLTQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPS
TSAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGS
DGFCMFFEDSIIYTTEMDNLRHTTPTASPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISP

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>5277_5277_4_AP3D1-KCTD19_AP3D1_chr19_2137726_ENST00000356926_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1055AA_BP=130
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSES
QRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSE
FPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSN
IDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGN
GVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTL
QTLLKYPELLSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESE
NEEAFSIRRLHVVTEGPGSLVEFSRDTKETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHC
RGLCTNPGHWGSHPESPPKKKCTTINLTQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPS
TSAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGS
DGFCMFFEDSIIYTTEMDNLRHTTPTASPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISP

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>5277_5277_5_AP3D1-KCTD19_AP3D1_chr19_2138618_ENST00000345016_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1028AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFS
SCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDT
EEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNM
GGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYE
LCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLI
HGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDT
KETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINL
TQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAK
DKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWV

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>5277_5277_6_AP3D1-KCTD19_AP3D1_chr19_2138618_ENST00000350812_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1028AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFS
SCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDT
EEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNM
GGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYE
LCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLI
HGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDT
KETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINL
TQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAK
DKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWV

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>5277_5277_7_AP3D1-KCTD19_AP3D1_chr19_2138618_ENST00000355272_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1028AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFS
SCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDT
EEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNM
GGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYE
LCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLI
HGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDT
KETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINL
TQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAK
DKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWV

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>5277_5277_8_AP3D1-KCTD19_AP3D1_chr19_2138618_ENST00000356926_KCTD19_chr16_67354788_ENST00000304372_length(amino acids)=1028AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFS
SCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDT
EEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNM
GGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYE
LCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLI
HGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDT
KETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINL
TQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAK
DKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWV

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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/chr19:2138618/chr16:67354788)
- 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
AP3D1

O14617

KCTD19

Q17RG1

FUNCTION: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity). {ECO:0000250|UniProtKB:O54774, ECO:0000269|PubMed:26744459}.

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
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-33034_7191.01154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-33234_7191.01216.0RepeatNote=HEAT 1
TgeneKCTD19chr19:2137726chr16:67354788ENST0000030437201618_721.0927.0DomainNote=BTB 1
TgeneKCTD19chr19:2137726chr16:67354788ENST00000304372016398_4851.0927.0DomainNote=BTB 2
TgeneKCTD19chr19:2138618chr16:67354788ENST0000030437201618_721.0927.0DomainNote=BTB 1
TgeneKCTD19chr19:2138618chr16:67354788ENST00000304372016398_4851.0927.0DomainNote=BTB 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330659_67991.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330725_75691.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330845_86991.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332659_67991.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332725_75691.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332845_86991.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230659_67964.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230725_75664.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230845_86964.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232659_67964.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232725_75664.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232845_86964.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330828_89391.01154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332828_89391.01216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230828_89364.01154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232828_89364.01216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330142_17991.01154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330180_21691.01154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330254_29291.01154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330299_33691.01154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330338_37391.01154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330375_40991.01154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330431_46891.01154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330497_53591.01154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-330548_58591.01154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2137726chr16:67354788ENST00000345016-33077_11491.01154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332142_17991.01216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332180_21691.01216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332254_29291.01216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332299_33691.01216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332338_37391.01216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332375_40991.01216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332431_46891.01216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332497_53591.01216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-332548_58591.01216.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2137726chr16:67354788ENST00000355272-33277_11491.01216.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230142_17964.01154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230180_21664.01154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230254_29264.01154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230299_33664.01154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230338_37364.01154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-23034_7164.01154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230375_40964.01154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230431_46864.01154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230497_53564.01154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-230548_58564.01154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2138618chr16:67354788ENST00000345016-23077_11464.01154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232142_17964.01216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232180_21664.01216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232254_29264.01216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232299_33664.01216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232338_37364.01216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-23234_7164.01216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232375_40964.01216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232431_46864.01216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232497_53564.01216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-232548_58564.01216.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2138618chr16:67354788ENST00000355272-23277_11464.01216.0RepeatNote=HEAT 2


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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 >>>1812_AP3D1_2138618_KCTD19_67354788_ranked_0.pdbAP3D121377262138618ENST00000304372KCTD19chr1667354788-
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFS
SCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDT
EEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNM
GGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYE
LCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLI
HGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDT
KETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINL
TQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAK
DKGPEPTFKPYLPPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWV
1028


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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.
AP3D1_pLDDT.png
all structure
all structure
KCTD19_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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AP3D1
KCTD19


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 AP3D1-KCTD19


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 AP3D1-KCTD19


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