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	Fusion Gene Summary
	Fusion Gene Breakpoints
	Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness
	Fusion Genomic Features
	Fusion Gene ORF Annotations
	Fusion Protein Retained/Non-Retained Functional Features
	Fusion Transcript Sequences
	Fusion Protein Sequences
	Personalized Fusion Protein Sequences
	Fusion Gene Expressed Samples
	Related Drugs

Fusion gene:ZNF350_SLC12A5 (FusionGDB2 ID:HG59348TG57468)

Fusion Gene Summary for ZNF350_SLC12A5

Fusion gene summary

Fusion gene information	Fusion gene name: ZNF350_SLC12A5
	Fusion gene ID: hg59348tg57468
		Hgene	Tgene
	Gene symbol	ZNF350	SLC12A5
	Gene ID	59348	57468
	Gene name	zinc finger protein 350	solute carrier family 12 member 5
	Synonyms	ZBRK1\|ZFQR	DEE34\|EIEE34\|EIG14\|KCC2\|hKCC2
	Cytomap	19q13.41	20q13.12
	Type of gene	protein-coding	protein-coding
	Description	zinc finger protein 350KRAB zinc finger protein ZFQRzinc finger and BRCA1-interacting protein with a KRAB domain 1zinc finger protein ZBRK1	solute carrier family 12 member 5K-Cl cotransporter 2electroneutral potassium-chloride cotransporter 2erythroid K-Cl cotransporter 2neuronal K-Cl cotransportersolute carrier family 12 (potassium/chloride transporter), member 5
	Modification date	20240305	20240317
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000243644, ENST00000600703,
Fusion gene scores	* DoF score	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 5 X 5 X 5=125	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 1 X 2 X 1=2
	# samples	8	1
	** MAII score	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score10) log2(8/12510)=-0.643856189774725 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score10) log2(1/210)=2.32192809488736
Context	PubMed: ZNF350 [Title/Abstract] AND SLC12A5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ZNF350(52477598)-SLC12A5(44669011), # samples:1

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Fusion Gene Breakpoints for ZNF350_SLC12A5

RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.

Hgene	Hchr	Hbp	Tgene	Tchr	Tbp
ZNF350	chr19	52477598	SLC12A5	chr20	52477598
ZNF350	chr19	52477599	SLC12A5	chr20	44669012

DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

SV type

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for ZNF350_SLC12A5

To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.

* We have 10 tumorigenic mechanism categories of fusion genes as shown below.

Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions	Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity	Epigenetic Reprogramming / Histone Modifier Dysregulation	Chromatin Remodeling Dysregulation	Condensate-Driven Transcriptional Rewiring / LLP	Promoter / Enhancer Hijacking	Dominant-Negative Antagonism	Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation	Subcellular Mislocalization / Spatial Dysregulation	Nuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.

Fusion Gene Name	Mechanism Category	Mechanism PubMed	Tumorigenic Scenarios	Tumorigenic Scenario PubMed	Targeting Points	Targeting PubMed	Mechanism Background	Mechanism Background PubMed
ZNF350-SLC12A5	Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity M2		ZNF350 transcription factor couples to KCC2 (SLC12A5) potassium-chloride cotransporter, coordinating aberrant transactivation with transmembrane ionic volume and chloride regulation.		Transcriptional CDK inhibitors; transporter blockers		Carcinomas and solid tumors

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.

Fusion Gene Name	Mechanism Category	Mechanism PubMed	Tumorigenic Scenarios	Tumorigenic Scenario PubMed	Targeting Points	Targeting PubMed	Mechanism Background	Mechanism Background PubMed
ZNF350-SLC12A5	Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity M2		ZNF350 transcription factor couples to KCC2 (SLC12A5) potassium-chloride cotransporter, coordinating aberrant transactivation with transmembrane ionic volume and chloride regulation.	Evidence level: Limited indirect gene evidence; Confidence: Low; PMID: 36609444; Title: A potassium-chloride co-transporter promotes tumor progression and castration resistance of prostate cancer through m6A reader YTHDC1.; PMID: 32449280; Title: SLC12A5 interacts and enhances SOX18 activity to promote bladder urothelial carcinoma progression via upregulating MMP7.	Transcriptional CDK inhibitors; transporter blockers	Evidence level: Indirect gene evidence; Confidence: Medium; PMID: 36609444; Title: A potassium-chloride co-transporter promotes tumor progression and castration resistance of prostate cancer through m6A reader YTHDC1.	Carcinomas and solid tumors	Evidence level: Indirect gene evidence; Confidence: Medium; PMID: 32449280; Title: SLC12A5 interacts and enhances SOX18 activity to promote bladder urothelial carcinoma progression via upregulating MMP7.; PMID: 36645171; Title: SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes.

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

Hgene	Tgene
.	.

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
Hgene	ZNF350	GO:0000122	negative regulation of transcription by RNA polymerase II	11090615
Hgene	ZNF350	GO:0006355	regulation of DNA-templated transcription	11090615
Hgene	ZNF350	GO:0045892	negative regulation of DNA-templated transcription	11090615
Tgene	SLC12A5	GO:0006811	monoatomic ion transport	12106695
Tgene	SLC12A5	GO:0006971	hypotonic response	12106695
Tgene	SLC12A5	GO:0030644	intracellular chloride ion homeostasis	26333769
Tgene	SLC12A5	GO:0060996	dendritic spine development	24668262

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Fusion Genomic Features for ZNF350_SLC12A5

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of In-frame fusion genes. 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
ZNF350	chr19	52477598	-	SLC12A5	chr20	44669011	+	2.43e-05	1.00e+00

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5UTR-3CSD fusion genes (N-truncated cases).

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
ZNF350	chr19	52477598	-	SLC12A5	chr20	44669011	+	2.43e-05	1.00e+00

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5CDS-3UTR fusion genes (C-truncated cases).

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).

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Fusion Gene ORF Annotations for ZNF350_SLC12A5

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	ENST00000600703	ENST00000454036	ZNF350	chr19	52477598	-	SLC12A5	chr20	44669011	+
Frame-shift	ENST00000243644	ENST00000454036	ZNF350	chr19	52477598	-	SLC12A5	chr20	44669011	+

ORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length
(transcript)

Seq length
(peptide)

ORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.

Henst	Tenst	Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	Seq length (transcript)	Seq length (peptide)
ENST00000600703	ENST00000454036	ZNF350	chr19	52477598	SLC12A5	chr20	44669011	0	120

ORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length
(transcript)

Seq length
(peptide)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

No-coding score

Coding score

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).

Henst	Tenst	Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	No-coding score	Coding score
ENST00000600703	ENST00000454036	ZNF350	chr19	52477598	SLC12A5	chr20	44669011	0.00e+00	1.05e-06

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

No-coding score

Coding score

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Fusion Protein Retained/Non-Retained Functional Features for ZNF350_SLC12A5

Protein Level Annotation from FGviewer
* 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 (visualization across fusion protein length).

No matching images found for ${hg}_${tg}.

- In-frame and retained protein feature among the 13 regional features (texts).

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

- Retained PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Fusion Transcript Sequence for ZNF350_SLC12A5

In-frame Fusion Transcript Sequences.

N-Truncated Transcript (5UTR-3CDS) Sequences

>ZNF350_SLC12A5_ENST00000600703_ENST00000454036_52477598_44669011 length=2836nt 
 Breakpoint=0nt
GCTTACCTCTTCCCAGCCATGGCCATCTTCAAGGCAGAAGATGCCAGTGGGGAGGCAGCAGCCATGCTGAACAACATGCGTGTTTACGGCACCTGTGTGCTCACCTGCATGGCCACTGTGGTGTTTGTGGGTGTCAAGTATGTCAACAAG
TTTGCCCTTGTCTTCCTGGGTTGTGTCATCCTCTCCATCCTGGCCATCTATGCTGGGGTCATCAAGTCTGCCTTCGACCCACCCAACTTCCCGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCATGGCTTTGATGTCTGTGCCAAG
CTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTTTTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGAAACAATGTCACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATC
AAAGAGAACCTCTGGAGCTCCTACCTGACCAAGGGCGTGATTGTGGAGAGGAGTGGGATGACCTCGGTGGGCCTGGCCGATGGCACTCCTATCGACATGGACCACCCTTATGTCTTCAGTGATATGACCTCCTACTTCACCCTGCTGGTT
GGCATCTACTTCCCCTCAGTCACAGGGATCATGGCTGGTTCTAACCGCTCTGGGGACCTGAGGGATGCCCAGAAGTCAATCCCCACTGGCACCATCCTGGCCATCGCCACCACCTCTGCTGTCTACATCAGCTCCGTTGTTCTGTTTGGG
GCCTGCATTGAGGGGGTCGTCCTGCGGGACAAGTTTGGCGAAGCTGTGAATGGCAACCTCGTGGTGGGCACTCTGGCCTGGCCATCTCCATGGGTAATTGTCATCGGATCCTTCTTCTCCACCTGTGGGGCTGGGCTGCAGAGCCTCACG
GGGGCCCCACGCCTGCTGCAGGCCATCTCGAGGGATGGCATTGTGCCCTTCCTGCAGGTCTTTGGCCATGGCAAGGCCAATGGAGAGCCGACCTGGGCCCTGCTCCTGACTGCCTGCATCTGCGAGATTGGCATCCTCATTGCATCCCTC
GACGAGGTGGCCCCCATCCTCTCTATGTTCTTCCTGATGTGCTACATGTTTGTGAATCTGGCCTGTGCAGTGCAGACGCTGCTGAGGACACCCAACTGGAGGCCACGCTTTCGATATTACCACTGGACCCTCTCCTTCCTGGGCATGAGC
CTCTGCCTGGCCCTCATGTTCATCTGCTCCTGGTATTATGCACTGGTAGCCATGCTCATTGCTGGACTCATCTACAAGTACATTGAGTACCGTGGGGCAGAGAAGGAGTGGGGCGATGGGATACGAGGTCTGTCTCTCAGTGCGGCTCGC
TATGCCCTCTTACGCCTGGAGGAAGGGCCCCCACACACCAAGAACTGGAGGCCACAGCTGCTGGTGCTGGTGCGTGTGGACCAAGACCAGAATGTGGTGCACCCCCAGCTGCTCTCACTGACCTCCCAGCTGAAGGCGGGGAAGGGCCTG
ACCATCGTGGGCTCTGTCCTTGAGGGCACCTTTCTGGAAAATCATCCACAGGCCCAGCGGGCAGAAGAGTCTATCAGGCGCCTGATGGAGGCAGAGAAGGTGAAGGGCTTCTGCCAGGTGGTGATCTCCTCCAACTTGCGTGATGGCGTG
TCCCATCTGATCCAGTCCGGGGGCCTCGGGGGGCTGCAGCACAACACTGTGCTTGTTGGCTGGCCCCGCAACTGGCGCCAGAAGGAAGATCATCAGACGTGGAGGAACTTCATTGAGCTGGTCCGGGAAACCACAGCTGGCCACTTAGCC
CTGCTGGTCACCAAGAACGTTTCCATGTTTCCTGGGAACCCTGAGCGCTTCTCTGAGGGCAGCATCGACGTTTGGTGGATTGTGCACGATGGAGGCATGCTCATGCTGCTGCCCTTCCTGCTGCGGCACCACAAGGTCTGGCGGAAGTGC
AAGATGCGTATCTTCACTGTGGCCCAGATGGATGACAATAGCATCCAGATGAAGAAGGATCTGACCACATTTCTGTATCATTTACGCATCACTGCGGAGGTCGAGGTGGTGGAGATGCATGAGAGCGACATCTCAGCTTACACCTATGAG
AAGACGTTGGTGATGGAGCAGCGTTCCCAGATCCTCAAACAGATGCATTTAACCAAGAATGAGCGGGAGCGGGAGATCCAGAGTATCACAGATGAGTCACGAGGCTCAATCCGGAGAAAGAATCCAGCCAACACGCGGCTCCGCCTGAAC
GTCCCAGAAGAGACGGCTGGTGACAGTGAAGAGAAGCCAGAGGAGGAGGTGCAGCTGATCCACGATCAGAGTGCTCCCAGCTGCCCCAGCAGCTCCCCGTCCCCAGGGGAGGAGCCTGAGGGGGAAGGGGAGACAGATCCGGAGAAGGTG
CATCTCACCTGGACCAAGGACAAGTCGGTGGCAGAGAAGAATAAGGGCCCCAGTCCTGTCTCCTCTGAGGGCATCAAGGACTTCTTCAGCATGAAGCCGGAGTGGGAGAACTTGAACCAGTCCAACGTGCGGCGCATGCACACGGCCGTG
CGGCTGAACGAGGTCATCGTGAAGAAATCCCGGGACGCCAAGCTTGTTTTGCTCAACATGCCTGGGCCTCCCCGCAACCGCAATGGTGATGAAAACTACATGGAGTTTCTCGAGGTCCTCACAGAGCACCTGGACCGGGTGATGCTGGTC
CGCGGCGGCGGCCGCGAGGTCATCACCATCTACTCCTGAGAACCAGGACCTGCCACCCGGGCCCGAGCGCGCCCGGCCCGCGGCTCCGGAGCCCTCGCCGCGCCCCCCGCCGCTGTCACCGTTTACATACAGACCC

C-Truncated Transcript (5CDS-3UTR) Sequences

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Fusion Protein Sequence for ZNF350_SLC12A5

In-frame Fusion Protein Sequences.

N-Truncated Protein (5UTR-3CDS) Sequences

>ZNF350_SLC12A5_ENST00000600703_ENST00000454036_52477598_44669011 length=120nt
LSFYSGHSSFSMYCMLFVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTGLIQGALVAILVAVYVSDFFKERTSFKERKEEDSHTTLHETPTTGNHYPSNHQP

C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for ZNF350_SLC12A5

TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

Num

Gene Group

Domain Loci

Fusion Protein ID

Fusion Gene Name

Partner

Mutated Residue in WT Protein

Seq. Length

Mutated Residue in Fusion Protein

CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

Num

Gene Group

Domain Loci

Fusion Protein ID

Fusion Gene Name

Partner

Mutated Residue in WT Protein

Seq. Length

Mutated Residue in Fusion Protein

TCGA All Mutated Fusion Protein Sequences

Fusion Protein ID

Sample ID

Mutated Partner

AAchange in WT

Seq. Length

AAchange in Fusion

CCLE All Mutated Fusion Protein Sequences

Fusion Protein ID

Sample ID

Mutated Partner

AAchange in WT

Seq. Length

AAchange in Fusion

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Fusion Gene Exprssed Samples for ZNF350_SLC12A5

RNA-seq based fusion gene expressed samples.

Source	Study	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB		OV	TCGA-23-1024-01A	ZNF350	chr19	52477598	-	SLC12A5	chr20	52477598	+
TCGAfusionPortal		OV	TCGA-23-1024-01A	ZNF350	chr19	52477599	-	SLC12A5	chr20	44669012	+
WashU		OV	TCGA-23-1024-01A	ZNF350	chr19	52477599	-	SLC12A5	chr20	44669012	+

DNA-seq based fusion gene expressed samples.

Source

Study

Disease

Sample

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

SV type

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Related Drugs for ZNF350_SLC12A5

PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug']
* For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.

PMID

Fusion Gene Name

Drug

Study Title

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status