SRSF7

Summary

SRSF7 (serine and arginine rich splicing factor 7, HGNC:10789) is a protein-coding gene on chromosome 2p22.1, encoding Serine/arginine-rich splicing factor 7 (Q16629). Required for pre-mRNA splicing. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6432 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 34 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001031684

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10789
Approved symbol	SRSF7
Name	serine and arginine rich splicing factor 7
Location	2p22.1
Locus type	gene with protein product
Status	Approved
Aliases	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20
Ensembl gene	ENSG00000115875
Ensembl biotype	protein_coding
OMIM	600572
Entrez	6432

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 21 protein_coding, 6 nonsense_mediated_decay, 2 retained_intron

ENST00000313117, ENST00000409276, ENST00000415527, ENST00000425778, ENST00000425941, ENST00000431066, ENST00000432873, ENST00000443213, ENST00000446327, ENST00000452806, ENST00000477635, ENST00000487773, ENST00000908960, ENST00000908961, ENST00000908962, ENST00000908963, ENST00000908964, ENST00000926870, ENST00000926871, ENST00000926872, ENST00000926873, ENST00000926874, ENST00000926875, ENST00000926876, ENST00000926877, ENST00000926878, ENST00000926879, ENST00000926880, ENST00000926881

RefSeq mRNA: 3 — MANE Select: NM_001031684 NM_001031684, NM_001195446, NM_001363802

CCDS: CCDS33183, CCDS56115, CCDS86832

Canonical transcript exons

ENST00000313117 — 8 exons

Exon	Start	End
ENSE00001797651	38743599	38745187
ENSE00003513477	38750014	38750194
ENSE00003541158	38746694	38746747
ENSE00003567745	38749529	38749705
ENSE00003623012	38748579	38748653
ENSE00003633960	38748047	38748157
ENSE00003654240	38746144	38746179
ENSE00003842732	38751229	38751361

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 186.9772 / max 2929.3158, expressed in 1828 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27889	186.9233	1828
27888	0.0539	13

Top tissues by expression

302 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	98.87	gold quality
granulocyte	CL:0000094	98.85	gold quality
ventricular zone	UBERON:0003053	98.83	gold quality
embryo	UBERON:0000922	98.79	gold quality
left uterine tube	UBERON:0001303	98.69	gold quality
lymph node	UBERON:0000029	98.64	gold quality
mucosa of stomach	UBERON:0001199	98.58	gold quality
peritoneum	UBERON:0002358	98.56	gold quality
omental fat pad	UBERON:0010414	98.56	gold quality
monocyte	CL:0000576	98.51	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.43	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	98.29	gold quality
mononuclear cell	CL:0000842	98.28	gold quality
vermiform appendix	UBERON:0001154	98.28	gold quality
spleen	UBERON:0002106	98.27	gold quality
right uterine tube	UBERON:0001302	98.26	gold quality
leukocyte	CL:0000738	98.20	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.18	gold quality
rectum	UBERON:0001052	98.12	gold quality
right ovary	UBERON:0002118	98.11	gold quality
trabecular bone tissue	UBERON:0002483	98.09	gold quality
sigmoid colon	UBERON:0001159	98.07	gold quality
body of stomach	UBERON:0001161	98.05	gold quality
left ovary	UBERON:0002119	98.03	gold quality
body of uterus	UBERON:0009853	98.00	gold quality
caecum	UBERON:0001153	97.98	gold quality
left lobe of thyroid gland	UBERON:0001120	97.96	gold quality
transverse colon	UBERON:0001157	97.95	gold quality
superficial temporal artery	UBERON:0001614	97.93	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-95	yes	3024.30
E-HCAD-4	yes	105.62
E-CURD-122	yes	49.26
E-CURD-46	yes	43.94
E-CURD-88	yes	43.52
E-HCAD-1	yes	41.60
E-MTAB-8142	yes	36.32
E-GEOD-135922	yes	26.20
E-HCAD-13	yes	19.81
E-MTAB-9689	no	570.33
E-MTAB-7051	no	202.29
E-HCAD-8	no	42.08
E-MTAB-9388	no	12.20
E-MTAB-8271	no	6.77
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, SRSF1, SRSF2

miRNA regulators (miRDB)

112 targeting SRSF7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AR-3P	99.85	71.26	3889

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 19)

• SR proteins 9G8, SC35, ASF/SF2, and SRp40 have effects on the utilization of the A1 to A5 splicing sites of HIV-1 RNA (PMID:15123677)
• SR proteins 9G8 and ASF/SF2 exhibit higher affinity for TAP/NXF1 when hypophosphorylated (PMID:15210956)
• SR proteins ASF/SF2, SC35 and 9G8 can down-regulate the late steps of HIV-1 replication via negative impact on RNA splicing and virion production. (PMID:15907217)
• These results indicate that 9G8 plays a key role in regulation of exon 10 splicing and imply a pathogenic role in neurodegenerative diseases. (PMID:17137791)
• 9G8 was shown to enhance expression of unspliced RNA containing either the Mason-Pfizer monkey virus constitutive transport element (PMID:17513303)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• eIF3f mediates restriction of HIV-1 expression through a set of factors that includes eIF3f, the SR protein 9G8, and the cyclin-dependent kinase 11 (CDK11). (PMID:19854136)
• The authors report that siRNA knockdown of SRp20 or 9G8 resulted in about a 10 fold decrease in herpes simplex virus 1 yields and in nuclear accumulation of polyA+ RNA. (PMID:20227104)
• Coexpression of Dyrk1A and splicing factor 9G8 leads to their translocation from the nucleus to the cytoplasm and suppresses their ability to regulate tau exon 10 splicing. (PMID:21215488)
• Upregulation of total tau expression (SFRS7-independent) and tau exon 10 splicing (SFRS7-dependent), as shown in this study to be both affected by STOX1A, is known to have implications in neurodegeneration. (PMID:21755018)
• Cyclic AMP-dependent protein kinase regulates 9G8-mediated alternative splicing of tau exon 10 (PMID:22677170)
• Genome-wide identification of CD95 antigen alternative splicing regulators, such as SRSF7, reveals links with iron homeostasis. (PMID:25482508)
• role of SRSF7 in cell proliferation through regulating p21 levels. (PMID:27644562)
• SRSF7 expression in cancer cells is regulated by microRNAs: short, non-coding RNAs that bind to 3’UTR of target genes and downregulate their expression. SRSF7 regulate proliferation of renal cancer cells.SRSF7 regulates expression of osteopontin. (PMID:27664584)
• Long non-coding RNA MALAT1 regulates proliferation, apoptosis, migration and invasion via miR-374b-5p/SRSF7 axis in non-small cell lung cancer. (PMID:32141554)
• Sequence-dependent recruitment of SRSF1 and SRSF7 to intronless lncRNA NKILA promotes nuclear export via the TREX/TAP pathway. (PMID:34096602)
• Specific Regulation of m[6]A by SRSF7 Promotes the Progression of Glioblastoma. (PMID:34954129)
• The splicing factor 9G8 regulates the expression of NADPH-producing enzyme genes in Drosophila. (PMID:35780586)
• SRSF7 downregulation induces cellular senescence through generation of MDM2 variants. (PMID:38159247)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	srsf7b	ENSDARG00000101057
mus_musculus	Srsf7	ENSMUSG00000024097
rattus_norvegicus	Srsf7	ENSRNOG00000027360
drosophila_melanogaster	x16	FBGN0028554
drosophila_melanogaster	Rbp1-like	FBGN0030479
drosophila_melanogaster	Rbp1	FBGN0260944

Paralogs (8): SRSF5 (ENSG00000100650), RSRC2 (ENSG00000111011), SRSF9 (ENSG00000111786), SRSF3 (ENSG00000112081), SRSF4 (ENSG00000116350), RSRP1 (ENSG00000117616), SRSF6 (ENSG00000124193), SRSF1 (ENSG00000136450)

Protein

Protein identifiers

Serine/arginine-rich splicing factor 7 — Q16629 (reviewed: Q16629)

Alternative names: Splicing factor 9G8, Splicing factor, arginine/serine-rich 7

All UniProt accessions (6): A0A0B4J1Z1, C9JAB2, Q16629, F8WEA1, H7BZZ6, H7C1N1

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific.

Subunit / interactions. Found in large molecular weight complexes containing CCNL1 and the p110 isoforms of either CDC2L1 or CDC2L2. Interacts with CCNL2 and CPSF6. Interacts with NXF1. Interacts with YTHDC1.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Brain, liver, kidney and lung.

Post-translational modifications. Extensively phosphorylated on serine residues in the RS domain.

Similarity. Belongs to the splicing factor SR family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q16629-1	1	yes
Q16629-2	2
Q16629-3	3
Q16629-4	4

RefSeq proteins (3): NP_001026854, NP_001182375, NP_001350731 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR001878	Znf_CCHC	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034651	SRSF7_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR036875	Znf_CCHC_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (42 total): modified residue 12, repeat 6, splice variant 5, strand 4, region of interest 3, compositionally biased region 3, mutagenesis site 2, helix 2, chain 1, domain 1, cross-link 1, sequence conflict 1, zinc finger region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2HVZ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16629-F1	57.54	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (13): 24, 32, 163, 165, 167, 181, 183, 192, 194, 196, 231, 233, 24

Mutagenesis-validated functional residues (2):

Position	Phenotype
87–88	abolishes interaction with nxf1.
97–98	abolishes interaction with nxf1.

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
R-HSA-72187	mRNA 3’-end processing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-72172	mRNA Splicing
R-HSA-72202	Transport of Mature Transcript to Cytoplasm
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 359 (showing top): E2F_Q4, ZHAN_LATE_DIFFERENTIATION_GENES_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, E2F4DP1_01, GOBP_RESPONSE_TO_PEPTIDE, NKX25_02, MODULE_151, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, AREB6_03, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KENNY_CTNNB1_TARGETS_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TATTATA_MIR374

GO Biological Process (6): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), RNA splicing (GO:0008380), negative regulation of mRNA splicing, via spliceosome (GO:0048025), mRNA transport (GO:0051028), cellular response to leukemia inhibitory factor (GO:1990830)

GO Molecular Function (7): RNA binding (GO:0003723), mRNA binding (GO:0003729), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear speck (GO:0016607), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Processing of Capped Intron-Containing Pre-mRNA	3
mRNA Splicing	2
Transport of Mature Transcript to Cytoplasm	1
Metabolism of RNA	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of mRNA splicing, via spliceosome	2
RNA processing	2
binding	2
cellular anatomical structure	2
alternative mRNA splicing, via spliceosome	1
mRNA metabolic process	1
mRNA splicing, via spliceosome	1
negative regulation of RNA splicing	1
negative regulation of mRNA processing	1
RNA transport	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
nucleic acid binding	1
RNA binding	1
transition metal ion binding	1
protein binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

2194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRSF7	YTHDC1	Q96MU7	853
SRSF7	SRSF1	Q07955	785
SRSF7	U2AF2	P26368	748
SRSF7	TRA2B	P62995	742
SRSF7	SRSF11	Q05519	730
SRSF7	HNRNPA1	P09651	728
SRSF7	PTBP1	P26599	722
SRSF7	RBMX	P38159	722
SRSF7	NXF1	Q9UBU9	711
SRSF7	HNRNPC	P07910	708
SRSF7	TRA2A	Q13595	701
SRSF7	HNRNPF	P52597	697
SRSF7	HNRNPA2B1	P22626	683
SRSF7	U2AF1	Q01081	658
SRSF7	HNRNPL	P14866	650

IntAct

212 interactions, top by confidence:

A	B	Type	Score
MAPK14	RPS6KA4	psi-mi:“MI:0914”(association)	0.870
LARP7	CCNT1	psi-mi:“MI:0914”(association)	0.850
PPIE	AQR	psi-mi:“MI:0914”(association)	0.810
SRSF7	LUC7L2	psi-mi:“MI:0915”(physical association)	0.780
RALY	HNRNPC	psi-mi:“MI:0914”(association)	0.740
SRSF7	SDCBP	psi-mi:“MI:0915”(physical association)	0.720
SDCBP	SRSF7	psi-mi:“MI:0915”(physical association)	0.720
RNPS1	SRSF7	psi-mi:“MI:0915”(physical association)	0.670
SRSF7	NXF1	psi-mi:“MI:0915”(physical association)	0.670
SRSF7	RBBP6	psi-mi:“MI:0915”(physical association)	0.660
RBBP6	SRSF7	psi-mi:“MI:0403”(colocalization)	0.660
EIF4A3	HNRNPA1	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
THOC1	DDX39A	psi-mi:“MI:0914”(association)	0.640
SRPK2	SRSF7	psi-mi:“MI:0217”(phosphorylation reaction)	0.640
SRSF7	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.640
PNN	SAP18	psi-mi:“MI:0914”(association)	0.620
SRSF7	CDK6	psi-mi:“MI:0217”(phosphorylation reaction)	0.570
SRSF7	LUC7L	psi-mi:“MI:0915”(physical association)	0.560
SRSF7	PRPF38A	psi-mi:“MI:0915”(physical association)	0.560
CLK1	SRSF7	psi-mi:“MI:0915”(physical association)	0.560
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530

BioGRID (531): SRSF7 (Affinity Capture-MS), SRSF7 (Two-hybrid), LUC7L2 (Two-hybrid), SRSF7 (Affinity Capture-RNA), SRSF7 (Affinity Capture-RNA), SRSF7 (Affinity Capture-RNA), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS)

ESM2 similar proteins: A2RVS6, F4JHI7, O22315, O75494, O81126, O81127, P30352, P84103, P84104, P92964, P92965, P92966, Q01130, Q06A98, Q07955, Q09511, Q0VCY7, Q10021, Q13242, Q13595, Q16629, Q18409, Q23120, Q23121, Q3MHR5, Q3SZR8, Q3T106, Q3YLA6, Q5PPI1, Q5R1W5, Q5R7H2, Q62093, Q69KL9, Q6DII2, Q6K4N0, Q6K9C3, Q6NYA0, Q6PDM2, Q6PDU1, Q6PFR5

Diamond homologs: A0A0D1DZT6, A2RVS6, A5A6M3, D4AE41, F4JHI7, G3V6S8, O22315, O22703, O35326, O75494, O81127, O93235, P19682, P26686, P28644, P30352, P33240, P38159, P60824, P60825, P60826, P78814, P84103, P84104, P84586, P92964, Q01130, Q02427, Q04836, Q06AT9, Q07955, Q08170, Q09167, Q0VCY7, Q10021, Q13242, Q13243, Q13247, Q14011, Q16629

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SRSF7	up-regulates	NXF1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 191 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transport of Mature Transcript to Cytoplasm	8	22.7×	6e-08
Mitochondrial translation	19	19.5×	1e-17
Mitochondrial ribosome-associated quality control	21	19.2×	6e-19
Mitochondrial translation initiation	20	18.9×	3e-18
Mitochondrial translation elongation	20	18.9×	3e-18
Mitochondrial translation termination	20	16.4×	4e-17
mRNA 3’-end processing	11	16.2×	3e-09
RNA Polymerase II Transcription Termination	9	14.8×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of mRNA splicing, via spliceosome	5	26.1×	1e-04
regulation of mRNA processing	5	26.1×	1e-04
negative regulation of mRNA splicing, via spliceosome	5	22.5×	2e-04
mitochondrial translation	20	20.4×	6e-18
spliceosomal complex assembly	5	17.7×	6e-04
mRNA export from nucleus	10	17.4×	7e-08
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	6	16.5×	1e-04
regulation of alternative mRNA splicing, via spliceosome	9	12.9×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1110 predictions. Top by Δscore:

Variant	Effect	Δscore
2:38745183:AACGA:A	acceptor_gain	1.0000
2:38745184:ACGA:A	acceptor_gain	1.0000
2:38745185:CGA:C	acceptor_gain	1.0000
2:38745185:CGAC:C	acceptor_gain	1.0000
2:38745186:GA:G	acceptor_gain	1.0000
2:38745188:C:CC	acceptor_gain	1.0000
2:38746138:GCTTA:G	donor_loss	1.0000
2:38746140:TTA:T	donor_loss	1.0000
2:38746141:TA:T	donor_loss	1.0000
2:38746142:A:AT	donor_loss	1.0000
2:38746143:C:CA	donor_loss	1.0000
2:38746143:CCTT:C	donor_gain	1.0000
2:38746176:TCGG:T	acceptor_gain	1.0000
2:38746177:CGG:C	acceptor_gain	1.0000
2:38746177:CGGC:C	acceptor_gain	1.0000
2:38746178:GG:G	acceptor_gain	1.0000
2:38746178:GGCT:G	acceptor_loss	1.0000
2:38746180:C:CC	acceptor_gain	1.0000
2:38746180:C:T	acceptor_loss	1.0000
2:38746181:T:A	acceptor_loss	1.0000
2:38746690:CTAC:C	donor_loss	1.0000
2:38746692:A:AT	donor_loss	1.0000
2:38746693:C:A	donor_loss	1.0000
2:38746693:CCTG:C	donor_gain	1.0000
2:38746743:GGGAT:G	acceptor_gain	1.0000
2:38746744:GGAT:G	acceptor_gain	1.0000
2:38746745:GAT:G	acceptor_gain	1.0000
2:38746746:AT:A	acceptor_gain	1.0000
2:38746747:TCTT:T	acceptor_loss	1.0000
2:38746748:C:CC	acceptor_gain	1.0000

AlphaMissense

1457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:38749559:C:G	C119S	1.000
2:38749559:C:T	C119Y	1.000
2:38749560:A:G	C119R	1.000
2:38749560:A:T	C119S	1.000
2:38749573:A:C	H114Q	1.000
2:38749573:A:T	H114Q	1.000
2:38749589:C:G	C109S	1.000
2:38749589:C:T	C109Y	1.000
2:38749590:A:G	C109R	1.000
2:38749590:A:T	C109S	1.000
2:38749597:G:C	C106W	1.000
2:38749598:C:A	C106F	1.000
2:38749598:C:G	C106S	1.000
2:38749598:C:T	C106Y	1.000
2:38749599:A:G	C106R	1.000
2:38749599:A:T	C106S	1.000
2:38749679:A:T	V79D	1.000
2:38750035:G:T	A63E	1.000
2:38750036:C:G	A63P	1.000
2:38750061:G:C	F54L	1.000
2:38750061:G:T	F54L	1.000
2:38750062:A:G	F54S	1.000
2:38750063:A:G	F54L	1.000
2:38750068:A:T	V52E	1.000
2:38750070:A:C	F51L	1.000
2:38750070:A:T	F51L	1.000
2:38750071:A:C	F51C	1.000
2:38750071:A:G	F51S	1.000
2:38750072:A:C	F51V	1.000
2:38750072:A:G	F51L	1.000

dbSNP variants (sampled 300 via entrez): RS1000090074 (2:38751610 C>G), RS1000194351 (2:38752077 G>A), RS1000454538 (2:38743567 G>A), RS1000687535 (2:38747193 C>A,G,T), RS1001088482 (2:38752696 A>C,T), RS1001372875 (2:38743335 T>C), RS1001848963 (2:38745588 G>A), RS1001871334 (2:38746862 G>A,C), RS1001902859 (2:38745748 TAAG>T), RS1001984391 (2:38750400 A>G), RS1002072205 (2:38751056 A>G), RS1002323656 (2:38746464 T>C), RS1003023182 (2:38750497 C>G,T), RS1003034614 (2:38750932 AG>A,AGG), RS1003394720 (2:38751099 C>A,T)

Disease associations

OMIM: gene MIM:600572 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066160 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.12	Kd	7.578	nM	CHEMBL3752910
8.12	ED50	7.578	nM	CHEMBL3752910
6.70	IC50	200	nM	MOLIBRESIB
6.59	Kd	258.1	nM	CHEMBL5653589
6.59	ED50	258.1	nM	CHEMBL5653589

PubChem BioAssay actives

3 with measured affinity, of 10 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149494: Binding affinity to human SRSF7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0076	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178460: Inhibition of SFRS7 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.2000	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149494: Binding affinity to human SRSF7 incubated for 45 mins by Kinobead based pull down assay	kd	0.2581	uM

CTD chemical–gene interactions

103 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	5
methylmercuric chloride	decreases expression, increases expression	2
bisphenol A	decreases expression	2
trichostatin A	affects expression, increases expression	2
arsenite	affects binding, decreases reaction, increases methylation	2
sodium arsenite	affects splicing, increases abundance, decreases expression, affects cotreatment	2
cobaltous chloride	decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cadmium	decreases expression, increases abundance, increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Hydrogen Peroxide	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
beauvericin	affects cotreatment, increases expression	1
2,4,6-tribromophenol	decreases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
decabromobiphenyl ether	decreases expression	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652536	Binding	Binding affinity to human SRSF7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.