	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 34252

FusionGeneSummary for SLC25A44_LMNA

Fusion gene summary

Fusion gene information	Fusion gene name: SLC25A44_LMNA
	Fusion gene ID: 34252
		Hgene	Tgene
	Gene symbol	SLC25A44	LMNA
	Gene ID	9673	4000
	Gene name	solute carrier family 25 member 44	lamin A/C
	Synonyms	-	CDCD1\|CDDC\|CMD1A\|CMT2B1\|EMD2\|FPL\|FPLD\|FPLD2\|HGPS\|IDC\|LDP1\|LFP\|LGMD1B\|LMN1\|LMNC\|LMNL1\|MADA\|PRO1
	Cytomap	1q22	1q22
	Type of gene	protein-coding	protein-coding
	Description	solute carrier family 25 member 44	lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32
	Modification date	20180522	20180523
	UniProtAcc	Q96H78	P02545
	Ensembl transtripts involved in fusion gene	ENST00000359511, ENST00000423538, ENST00000469537,	ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738,
Fusion gene scores	* DoF score	10 X 5 X 5=250	9 X 11 X 3=297
	# samples	10	11
	** MAII score	log2(10/250*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/297*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SLC25A44 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	LMNA	GO:0090343	positive regulation of cell aging	20458013

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BG339598	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000359511	ENST00000368301	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000361308	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000347559	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000368300	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000368299	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000448611	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000368297	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000473598	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000359511	ENST00000392353	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-intron	ENST00000359511	ENST00000496738	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000368301	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000361308	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000347559	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000368300	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000368299	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000448611	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000368297	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000473598	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-3CDS	ENST00000423538	ENST00000392353	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
5UTR-intron	ENST00000423538	ENST00000496738	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000368301	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000361308	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000347559	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000368300	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000368299	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000448611	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000368297	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000473598	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-3CDS	ENST00000469537	ENST00000392353	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+
intron-intron	ENST00000469537	ENST00000496738	SLC25A44	chr1	156164038	+	LMNA	chr1	156100406	+

Top

FusionProtFeatures for SLC25A44_LMNA

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
SLC25A44 Q96H78	LMNA P02545

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Top

FusionGeneSequence for SLC25A44_LMNA

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for SLC25A44_LMNA

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
SLC25A44	ELAVL1, JUP, NME2P1, IMPDH2, LASP1, IMPDH1	LMNA	LMNB1, SREBF1, NARF, EMD, KAT5, TMPO, ZNF239, SYNE1, RB1, ALOX12, PRKCA, TOR1A, TOR1AIP1, FYCO1, BANF1, RBBP4, ING1, CTNNB1, SRRM1, SRRM2, MORF4L1, MORF4L2, MRGBP, H2AFX, MYC, UCHL5, YWHAQ, MME, CTCF, SVIL, PRKDC, STAC, SIRT7, ISG15, PPP1CC, CDK2, PCBP1, EGF, LMNA, UBE2I, PCGF2, MRPS26, FLNA, UNC13D, SF3B3, WDR18, HNRNPM, SLC25A6, PMS2, SLC25A5, NONO, GZMB, GZMA, VCP, MLIP, FN1, VCAM1, CDH1, ITGA4, URB2, PHB, LEMD3, FAM169A, LBR, TMEM201, NUMA1, ANLN, LMNB2, NUP153, NUP50, AHCTF1, POM121, TPR, NUP98, NUP155, RANBP2, NUP133, RANGAP1, MCM3AP, NUP214, HIST1H4G, SAP30BP, SCML2, HP1BP3, ZBTB33, TOX4, TRIM28, FHL1, NELFE, ZNF280C, H2AFY, GTF2A1, BAZ1B, ORC2, GTF2F2, CHD8, SUPT5H, RUVBL1, SMARCA5, PML, TOP2A, MTDH, THRAP3, CXorf56, TAGLN2, TMEM230, ARPIN, C9orf78, PDAP1, CCDC47, DNAJC1, WDR70, RNF113A, YKT6, VRK2, CISD2, CTTN, LRRC59, CD2AP, EIF5, PCMT1, SRPRB, ACE, ALDH3A2, PDLIM3, FASN, CDKAL1, HNRNPA1, DDX46, HNRNPA0, DDX42, SUGP1, HNRNPA2B1, PAPOLA, RBM10, FUS, GPATCH1, SF1, U2SURP, DGCR14, HNRNPR, TFIP11, DDX3X, PPM1G, CPSF6, PDCD5, PCNP, TPX2, WWOX, MKI67, MASTL, HCFC1, CRK, SDCBP, PGRMC2, CRKL, HN1L, GPKOW, FAM192A, NPLOC4, PARP1, MRE11A, MDC1, XRCC6, RIF1, BRIP1, TIPRL, UBE2M, SENP1, USP15, SENP6, NCL, GNL2, CDK16, FBXO6, PARK2, KCTD12, KIAA0196, KPNA6, EEF1D, GMPPB, PSMD10, ZW10, ROCK2, TP53, RAPGEF2, DUSP13, KRTAP10-7, KRTAP10-3, ENO1, SHMT2, MOV10, NXF1, C17orf49, CUL7, OBSL1, CCDC8, EED, SIRT6, ILK, IRAK1, LIMK2, MAST3, ABCE1, USP7, DYNLT1, RPA1, NTRK1, SCARNA22, ANKRA2, RFXANK, STX5, HERC2, SRPK2, CLK1, CC2D2A, HIST1H3E, PPME1, MCM2, MCM5, SNW1, CDC5L, SMURF1, BMI1, CA5A, EGFR, SUN2, CYLD, SPTA1, EIF2AK2, DLST, PDHA1, SDHA, SOD1, TRIM25, G3BP1, ANXA6, APOA2, APOD, AQP1, AQP3, ASGR1, ATP6V0C, BCL2L2, BNIP2, BNIP3, BNIP3L, BYSL, C5, CACNG1, CCNG1, MS4A1, SCARB2, ENTPD3, CD72, CD81, CD52, CETN3, CLCN7, COL8A2, CRY2, CYB561, F2RL1, FCER1A, FCER1G, FDFT1, GALNT2, GJB2, GJB5, GPR25, GRM2, HCK, HMOX1, HMOX2, IFIT2, IGFBP5, ITGAM, KCNK1, KPNA1, KPNA3, KPNA4, KRT6A, LAMB1, LCP2, SMAD1, MAL, MEOX1, MFAP1, MGST3, MIP, MUTYH, NAB2, NEU1, NINJ2, NKG7, SERPINE1, PCNA, PIK3R2, PKD2, FXYD3, PLP1, PLP2, PMP22, PNLIPRP1, CTSA, PRNP, PTPN9, RHAG, RTN1, SFTPC, SIAH1, SLC1A1, SLC2A5, SLC7A1, SLN, SPN, STX3, STX4, VAMP1, VAMP2, SYPL1, TAP1, TCEA2, TCEB3, TDO2, TFRC, THBD, TSPAN7, TNF, UPK1B, ZNF3, ZNF69, ZNF138, TRIM26, SLC30A2, SLC30A3, MALL, STX7, CHST1, AOC3, EIF3G, VAMP4, TNFSF12, CDS2, TNFRSF10C, TMEM11, NAT8, PIAS2, CLDN10, USP2, SYNGR1, PTPLA, ZMYM6, VAMP3, ITM2B, STX8, CXCL14, SEC22B, GOSR2, ZSCAN12, RANBP9, TSPAN2, LINC01587, ALG3, STX6, RTN3, ABCA9, BTN2A2, WFDC2, FAM3C, CREB3, VTI1B, SLC35A1, RABAC1, SLU7, SLMO1, VAMP5, MTHFD2, FAXDC2, USP20, STARD3, MAPRE2, CYB561D2, C14orf1, PNKP, ACOT7, MGLL, CLCA4, SACM1L, ARL6IP1, LEPROTL1, LPAR3, STX12, APOL2, IFFO1, UNC50, LRP10, OSTF1, SEC22A, FETUB, LAT, SERP1, ARHGEF16, TMEM14A, TMEM208, EMR2, CLEC4A, DERL2, GOLT1B, PLLP, SBDS, INSIG2, CLEC1A, SPG21, AIG1, SCARA3, TMEM14C, FXYD6, C11orf24, SMIM11, YIPF1, GIN1, PAQR5, CLN6, PARPBP, TMEM51, WDYHV1, FAIM, SLC38A7, TMEM140, CSGALNACT2, DDX43, UBE2Q1, LIMS2, USE1, DBNDD2, UNC45A, TMEM234, RPRM, TMPRSS4, TRIM39, KCNK13, GPR108, DUS3L, SMCO4, DDX24, AGTRAP, RTN4, NIPAL3, ZNF490, CXCL16, SELK, SENP2, TNMD, EDDM3B, LMBR1, RGS18, C5orf28, SPANXD, SPANXC, C16orf58, SLC13A3, VKORC1, ALG8, TMEM109, DERL1, FA2H, TMEM243, TMEM43, C17orf62, C3orf52, ZC2HC1C, TM4SF20, CYBRD1, GOLGA2P10, ADAM33, TSGA10, CYB5B, CFHR5, VMP1, TMEM14B, MARVELD1, TMEM222, SLC41A2, FAM161A, DNAJC30, TMEM107, JAGN1, PERM1, GPR128, SLC35B4, MFSD5, COX14, TMEM128, TMEM60, AQP10, FATE1, CCDC120, TMEM41A, ZNF439, MYADM, REEP6, SYCE1, ORMDL1, ORMDL3, TMEM203, CMTM7, KIF12, TMEM54, SLC35A4, OSBPL8, C1QTNF1, CMTM5, CMTM3, CLDND2, ZNF440, IZUMO2, C20orf141, TMEM42, TRAM1L1, DEFB127, UBQLNL, CWF19L2, TMEM86A, TMEM120B, TMEM199, CCDC155, ZNF569, SYT6, CNIH3, RMDN2, SH3RF2, TMEM65, TMEM74, ZDHHC15, SGMS2, SLC30A8, TCEANC, FAM9B, PPAPDC1A, OSTCP1, TSNARE1, AQPEP, ZNF25, TMEM218, MMD2, LHFPL5, ZDHHC24, NALCN, BRICD5, VSTM1, YIPF6, TSPAN33, STAC2, SLC35B2, SFT2D2, SERP2, C2orf82, C4orf3, CENPP, ANKRD20A5P, BRCA1, EFTUD2, LUC7L3, NPM1, PRPF19, RNPS1, SRSF1, SRSF3, SRSF4, TRA2B, ALYREF, U2AF2, MYO1C, DKC1, FBL, GAR1, NHP2, NOP58, SFPQ, MATR3, HNRNPU, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H2BB, HIST1H3A, HIST2H2AB, HIST1H4H, H2AFZ, TTN, DDX23, DDX5, DHX15, HNRNPA1L2, HNRNPA3, HNRNPC, HNRNPH1, HNRNPK, PRPF6, RALY, SF3B1, SNRNP40, SNRPD1, SNRPD2, SNRPD3, YBX1, ACIN1, DDX18, DDX21, ILF2, ILF3, MYBBP1A, NOP2, NOP56, RPF2, RPL5, RPL6, RPL11, RPS3A, RPS6, RPS7, RPS25, RSL1D1, SRSF5, SRSF9, TOP1, UBTF, CD2BP2, CSNK2A1, ELAVL1, HNRNPL, PHB2, RPS2, SAP18, SSRP1, URI1, TP53BP1

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

RelatedDrugs for SLC25A44_LMNA

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for SLC25A44_LMNA

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	LMNA	C0410190	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	19	ORPHANET;UNIPROT
Tgene	LMNA	C1449563	Cardiomyopathy, Familial Idiopathic	17	ORPHANET;UNIPROT
Tgene	LMNA	C0033300	Progeria	14	CTD_human;ORPHANET;UNIPROT
Tgene	LMNA	C1720860	Familial Partial Lipodystrophy, Type 2	10	ORPHANET;UNIPROT
Tgene	LMNA	C1834653	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	7	CTD_human;ORPHANET;UNIPROT
Tgene	LMNA	C0432291	Mandibuloacral dysostosis	5	CTD_human;ORPHANET;UNIPROT
Tgene	LMNA	C0271694	Familial partial lipodystrophy	4	CTD_human
Tgene	LMNA	C0007193	Cardiomyopathy, Dilated	3	CTD_human;HPO
Tgene	LMNA	C0796031	Malouf syndrome	3	ORPHANET;UNIPROT
Tgene	LMNA	C2750035	Emery-Dreifuss Muscular Dystrophy 3	2	UNIPROT
Tgene	LMNA	C2750785	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	2	CTD_human;ORPHANET;UNIPROT
Tgene	LMNA	C0016508	Congenital Foot Deformity	1	CTD_human
Tgene	LMNA	C0018566	Congenital Hand Deformities	1	CTD_human
Tgene	LMNA	C0018794	Heart Block	1	CTD_human
Tgene	LMNA	C0032460	Polycystic Ovary Syndrome	1	CTD_human;HPO
Tgene	LMNA	C0036420	Localized scleroderma	1	CTD_human
Tgene	LMNA	C0037188	Sinoatrial Block	1	CTD_human
Tgene	LMNA	C0042514	Tachycardia, Ventricular	1	CTD_human
Tgene	LMNA	C0085298	Sudden Cardiac Death	1	CTD_human;HPO
Tgene	LMNA	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
Tgene	LMNA	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	LMNA	C0410189	Muscular Dystrophy, Emery-Dreifuss	1	CTD_human
Tgene	LMNA	C0686353	Muscular Dystrophies, Limb-Girdle	1	CTD_human;HPO
Tgene	LMNA	C1136321	HIV-Associated Lipodystrophy Syndrome	1	CTD_human
Tgene	LMNA	C1854154	Charcot-Marie-Tooth disease, Type 2B1	1	CTD_human;ORPHANET;UNIPROT

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 34252

FusionGeneSummary for SLC25A44_LMNA

FusionProtFeatures for SLC25A44_LMNA

FusionGeneSequence for SLC25A44_LMNA

FusionGenePPI for SLC25A44_LMNA

RelatedDrugs for SLC25A44_LMNA

RelatedDiseases for SLC25A44_LMNA