SRSF1

Summary

SRSF1 (serine and arginine rich splicing factor 1, HGNC:10780) is a protein-coding gene on chromosome 17q22, encoding Serine/arginine-rich splicing factor 1 (Q07955). Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13.

Source: NCBI Gene 6426 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 20 total — 7 pathogenic, 1 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 13 downstream targets (CollecTRI)
• MANE Select transcript: NM_006924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10780
Approved symbol	SRSF1
Name	serine and arginine rich splicing factor 1
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	ASF, SF2, SRp30a, SF2p33, MGC5228
Ensembl gene	ENSG00000136450
Ensembl biotype	protein_coding
OMIM	600812
Entrez	6426

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000258962, ENST00000578430, ENST00000581497, ENST00000581979, ENST00000582730, ENST00000583741, ENST00000584668, ENST00000584773, ENST00000585096

RefSeq mRNA: 2 — MANE Select: NM_006924 NM_001078166, NM_006924

CCDS: CCDS11600, CCDS58580

Canonical transcript exons

ENST00000258962 — 4 exons

Exon	Start	End
ENSE00003493110	58006343	58006527
ENSE00003656061	58000919	58005600
ENSE00003674217	58005801	58005973
ENSE00003685625	58006944	58007246

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 99.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 116.9632 / max 975.9728, expressed in 1825 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167173	108.1643	1825
167167	2.2362	1034
167175	1.6219	701
167170	1.0666	647
167169	0.9846	568
167166	0.8035	492
167168	0.7943	439
167171	0.4835	247
208276	0.4425	219
167174	0.3657	161

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	99.12	gold quality
ventricular zone	UBERON:0003053	99.07	gold quality
colonic epithelium	UBERON:0000397	98.71	gold quality
cortical plate	UBERON:0005343	98.46	gold quality
left ovary	UBERON:0002119	98.21	gold quality
body of uterus	UBERON:0009853	98.10	gold quality
rectum	UBERON:0001052	98.03	gold quality
adrenal tissue	UBERON:0018303	97.96	gold quality
calcaneal tendon	UBERON:0003701	97.93	gold quality
right ovary	UBERON:0002118	97.92	gold quality
endocervix	UBERON:0000458	97.87	gold quality
right uterine tube	UBERON:0001302	97.68	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.68	gold quality
monocyte	CL:0000576	97.65	gold quality
left uterine tube	UBERON:0001303	97.62	gold quality
adenohypophysis	UBERON:0002196	97.62	gold quality
ectocervix	UBERON:0012249	97.61	gold quality
left lobe of thyroid gland	UBERON:0001120	97.58	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.46	gold quality
right lobe of thyroid gland	UBERON:0001119	97.43	gold quality
minor salivary gland	UBERON:0001830	97.36	gold quality
lower esophagus	UBERON:0013473	97.34	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.34	gold quality
left adrenal gland cortex	UBERON:0035825	97.32	gold quality
right coronary artery	UBERON:0001625	97.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.27	gold quality
left adrenal gland	UBERON:0001234	97.25	gold quality
transverse colon	UBERON:0001157	97.23	gold quality
mononuclear cell	CL:0000842	97.21	gold quality
metanephros cortex	UBERON:0010533	97.21	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	16.72
E-ANND-3	yes	10.71
E-MTAB-6819	no	1442.81
E-GEOD-93593	no	6.73

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

13 targets.

Target	Regulation
AURKA
AURKB
COL1A1
HNRNPH1
HNRNPL
MYC	Unknown
NFKB1	Repression
RRM2
RSRC2
SRSF1
SRSF2
SRSF7
VIM

Upstream regulators (CollecTRI, top): E2F6, MYC, NR5A1, SRSF1, SRSF2

miRNA regulators (miRDB)

265 targeting SRSF1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• encodes for a repressor domain required for its inhibitor activity on pre-mRNA splicing (PMID:11801589)
• acts as a potent regulator of G alpha(s) isoform expression (PMID:11825891)
• ASF/SF2 plays an important role in viral RNA expression and splicing at the proximal 3’ splice site. (PMID:12525645)
• c-Src splicing activation by SF2/ASF is dependent on the N1 exon enhancer element. The activity of these exonic splicing regulators, SF2/ASF and hnRNP A1, is linked to the splicing of an exon primarily controlled by intronic factors. (PMID:12612063)
• 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)
• activates the ESE (exon splicing enhancer) which regulates HIV-1 rev, env, vpu, and nef gene expression (PMID:15163745)
• hypophosphorylation of ASF in mRNPs coincides with its higher affinity for TAP (PMID:15184380)
• splicing of beta-tropomyosin exon 6B is repressed by hnRNP A1, and activated by ASF/SF2 and SC35 (PMID:15208309)
• SR proteins 9G8 and ASF/SF2 exhibit higher affinity for TAP/NXF1 when hypophosphorylated (PMID:15210956)
• SF2/ASF is part of a complex that forms upon the 79-nucleotide negative regulatory element (NRE) that is thought to be pivotal in posttranscriptional regulation of late gene expression in human papillomavirus type 16 (PMID:15367627)
• 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)
• The vivo depletion of ASF/SF2 results in a hypermutation phenotype likely due to DNA rearrangements, reflected in the rapid appearance of DNA double-strand breaks and high-molecular-weight DNA fragments. (PMID:16096057)
• Data suggest that RS-domain phosphorylation may influence the association of splicing factor 2/alternative splicing factor with mRNA, whereas RRM2 may play an important role in mediating protein-protein interactions during translation. (PMID:16210245)
• ASF/SF2 is phosphorylated by SRPK1 and Clk/Sty (PMID:16223727)
• ASF/SF2 inactivation results in a G2-phase cell cycle arrest and subsequent programmed cell death; however, internucleosomal DNA fragmentation is not detected. (PMID:16260492)
• identified SRp30a as an RNA trans-acting factor that functions as a major regulator of caspase-9 pre-mRNA processing and is required for ceramide to mediate the alternative splicing of caspase-9 (PMID:16505493)
• In this work we report the identification of a strong SF2/ASF binding site within exon 7 of the human fibrinogen Bbeta-chain gene (FGB). (PMID:16611940)
• Data demonstrate that CDC2L5 is located in the nucleoplasm, where it directly interacts with the ASF/SF2-associated protein p32, a protein involved in splicing regulation. (PMID:16721827)
• Splicing factor SF2/ASF is upregulated in various human tumors, in part due to amplification of its gene, SFRS1. (PMID:17310252)
• a novel role for SR proteins in promoting RSV polyadenylation in the context of the NRS-3’ splice site complex, which is thought to bridge the long distance between the NRS and poly(A) site. (PMID:17670832)
• data provide additional evidence that the SF2/ASF RS domain is not strictly required for constitutive splicing in vitro, contrary to prevailing models for how the domains of SR proteins function to promote splicing (PMID:17786225)
• RNPS1 is able to function together with ASF/SF2 to form ribonucleoprotein complexes on nascent transcripts, and thereby prevent formation of transcriptional R-loops. (PMID:17959926)
• These studies reveal that SRPK1 docks near the C-terminus of the RS1 segment of ASF protein and then moves in an N-terminal direction along the RS domain. (PMID:18155240)
• Increased TAP binding correlates with increased SF2/ASF binding, but not increased REF/Aly or Y14 binding. (PMID:18243119)
• ASF/SF2 and SRp55 appear to interact with the variable TF exon 5 through exonic splicing enhancers at bases 39 and 87-117. Weakening of the above ESE modulates splicing of TF exon 5. (PMID:18315555)
• SF2/ASF promotes translation initiation of bound mRNAs; this activity requires the presence of the cytoplasmic cap-binding protein eIF4E. (PMID:18439897)
• poly(ADP-ribose) targeting of topoisomerase I and ASF/SF2 functions may participate in the regulation of gene expression (PMID:18495665)
• Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically (PMID:18586677)
• Data show that adaptable molecular interactions guide phosphorylation of the SR protein ASF/SF2 by SRPK1. (PMID:18687337)
• SF2/ASF splicing factor activates the mTORC1 branch of the pathway (PMID:18832178)
• data presented here indicate that SF2/ASF has the capacity to co-regulate the nuclear and cytoplasmic processing of specific mRNAs and provide further evidence that the nuclear history of an mRNA may influence its cytoplasmic fate (PMID:18841201)
• The authors demonstrate that the HPV16 E2 transcription factor transactivates the SF2/ASF promoter. (PMID:18945764)
• ASF/SF2 and PPAR-gamma determines the ratio of UCP3 isoforms. (PMID:19073146)
• These research data identify APC mutation c.1918C>G (pR640G) as pathogenic and indicate a mechanism involving disruption of an ASF/SF2 exonic splicing enhancer element. (PMID:19111562)
• SFRS1 may broadly influence the post-transcriptional control of gene expression in vivo. (PMID:19116412)
• ASF/SF2, associate with interphase chromatin, is released from hyperphosphorylated mitotic chromosomes, but reassociate with chromatin late in M-phase (PMID:19250906)
• role for SF2/ASF as a regulator of alternative translation, meaning the generation of different proteins by the balance among two translation initiation mechanisms (PMID:19441081)
• confirm the interactions of eEF1A1, p54(nrb), hnRNP-L, GAPDH and ASF/SF2 with the right terminal stem-loop domain of HDV genomic RNA in vitro (PMID:19464723)
• while local RS/SR content steers regional preferences in the RS domain, distal contacts with SRPK1 guide initiation and directional phosphorylation within these regions. (PMID:19477182)
• ASF/SF2 and SRp20 are two antagonistic splicing factors regulating Rac1b expression in colorectal tumor cells. (PMID:19602482)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	srsf1b	ENSDARG00000017843
danio_rerio	srsf1a	ENSDARG00000057691
mus_musculus	Srsf1	ENSMUSG00000018379
rattus_norvegicus	Srsf1	ENSRNOG00000050323

Paralogs (8): SRSF5 (ENSG00000100650), RSRC2 (ENSG00000111011), SRSF9 (ENSG00000111786), SRSF3 (ENSG00000112081), SRSF7 (ENSG00000115875), SRSF4 (ENSG00000116350), RSRP1 (ENSG00000117616), SRSF6 (ENSG00000124193)

Protein

Protein identifiers

Serine/arginine-rich splicing factor 1 — Q07955 (reviewed: Q07955)

Alternative names: Alternative-splicing factor 1, Splicing factor, arginine/serine-rich 1, pre-mRNA-splicing factor SF2, P33 subunit

All UniProt accessions (5): Q07955, J3KSR8, J3KSW7, J3KTL2, J3QQV5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5’- and 3’-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5’-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5’-RGAAGAAC-3’ (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5’-CGAGGCG-3’ motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway.

Subunit / interactions. Consists of two polypeptides of p32 and p33. Identified in the spliceosome C complex. Component of a ribonucleoprotein complex containing mRNAs and RNA-binding proteins including DDX5, HNRNPH2 and SRSF1 as well as splicing regulator ARVCF. In vitro, self-associates and binds SRSF2, SNRNP70 and U2AF1 but not U2AF2. Binds SREK1/SFRS12. Interacts with SAFB/SAFB1. Interacts with PSIP1/LEDGF. Interacts with RSRC1 (via Arg/Ser-rich domain). Interacts with ZRSR2/U2AF1-RS2. Interacts with CCDC55 (via C-terminus). Interacts with SRPK1 and a sliding docking interaction is essential for its sequential and processive phosphorylation by SRPK1. Interacts with NXF1. Interacts with CCNL1, CCNL2 and CDK11B. Interacts with RRP1B. Interacts (when phosphorylated in its RS domain) with TNPO3; promoting nuclear import. Interacts with ILDR1 (via C-terminus) and ILDR2.

Subcellular location. Cytoplasm. Nucleus speckle.

Post-translational modifications. Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Phosphorylated by SRPK1 at multiple serines in its RS domain via a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds to a docking groove in the large lobe of the kinase domain of SRPK1 and this induces certain structural changes in SRPK1 and/or RRM 2 domain of SRSF1, allowing RRM 2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM 2, which then docks at the docking groove of SRPK1. This also signals RRM 2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed. Asymmetrically dimethylated at arginines, probably by PRMT1, methylation promotes localization to nuclear speckles.

Disease relevance. Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) [MIM:620489] An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, hypotonia, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients have variable skeletal and cardiac anomalies. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The RRM 2 domain plays an important role in governing both the binding mode and the phosphorylation mechanism of the RS domain by SRPK1. RS domain and RRM 2 are uniquely positioned to initiate a highly directional (C-terminus to N-terminus) phosphorylation reaction in which the RS domain slides through an extended electronegative channel separating the docking groove of SRPK1 and the active site. RRM 2 binds toward the periphery of the active site and guides the directional phosphorylation mechanism. Both the RS domain and an RRM domain are required for nucleocytoplasmic shuttling.

Miscellaneous. May be due to intron retention.

Similarity. Belongs to the splicing factor SR family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q07955-1	ASF-1	yes
Q07955-2	ASF-2
Q07955-3	ASF-3

RefSeq proteins (2): NP_001071634, NP_008855* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR029538	SRSF1_RRM2	Domain
IPR034520	SRSF1_RRM1	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050374	RRT5_SRSF_SR	Family

Pfam: PF00076

UniProt features (84 total): modified residue 21, strand 16, mutagenesis site 15, sequence variant 11, helix 6, splice variant 3, region of interest 3, domain 2, cross-link 2, compositionally biased region 2, initiator methionine 1, chain 1, turn 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
4C0O	X-RAY DIFFRACTION	2.56
3BEG	X-RAY DIFFRACTION	2.9
8QO9	ELECTRON MICROSCOPY	5.29
7ABG	ELECTRON MICROSCOPY	7.8
9R8V	ELECTRON MICROSCOPY	8.5
1X4A	SOLUTION NMR
2M7S	SOLUTION NMR
2M8D	SOLUTION NMR
2O3D	SOLUTION NMR
6HPJ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07955-F1	71.99	0.37

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 (23): 2, 38, 93, 93, 97, 97, 109, 109, 111, 133, 179, 199, 201, 202, 205, 207, 209, 231, 234, 238 …

Mutagenesis-validated functional residues (15):

Position	Phenotype
58–59	in fv1; loss of ability to activate splicing. slight reduction in splice site switching activity and no effect on rna-bi
93	predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mrnas; when associated with ala-97
97	predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mrnas; when associated with ala-93
109	predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mrnas; when associated with ala-93
162–163	in fv2; loss of ability to activate splicing. great reduction in splice site switching activity and rna-binding.
162	in av; loss of ability to activate splicing. great reduction in splice site switching activity and no effect on rna-bind
162	reduced nucleocytoplasmic shuttling; when associated with d-190.
180	reduced nucleocytoplasmic shuttling; when associated with d-162.
182–248	in mr-b; strongly inhibits splicing.
182–199	in mr-e; loss of ability to activate splicing.
192–248	in mr-a; loss of ability to activate splicing.
192–199	in mr-d; loss of ability to activate splicing.
199–224	in rs-a; loss of ability to activate splicing but retains splice site switching.
215–248	in rs-c; loss of ability to activate splicing but retains splice site switching.
226–248	in rs-b; retains both splice activation and splice site switching activity.

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: 496 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, E2F_Q4, MORF_DNMT1, ELVIDGE_HYPOXIA_DN, E2F_Q4_01, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MORF_SMC1L1, TGCGCANK_UNKNOWN, E2F4DP1_01, GOBP_CIRCULATORY_SYSTEM_PROCESS, MORF_BUB1, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, BASSO_B_LYMPHOCYTE_NETWORK

GO Biological Process (20): alternative mRNA splicing, via spliceosome (GO:0000380), regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA 5’-splice site recognition (GO:0000395), mRNA splicing, via spliceosome (GO:0000398), in utero embryonic development (GO:0001701), mRNA splice site recognition (GO:0006376), mRNA processing (GO:0006397), signal transduction involved in regulation of gene expression (GO:0023019), positive regulation of RNA splicing (GO:0033120), protein localization to nucleus (GO:0034504), regulation of RNA splicing (GO:0043484), mRNA stabilization (GO:0048255), oligodendrocyte differentiation (GO:0048709), mRNA transport (GO:0051028), cardiac muscle contraction (GO:0060048), interleukin-17-mediated signaling pathway (GO:0097400), liver regeneration (GO:0097421), protein localization to P-body (GO:0110012), RNA splicing (GO:0008380), cellular response to interleukin-17 (GO:0097398)

GO Molecular Function (7): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein kinase B binding (GO:0043422), DNA topoisomerase binding (GO:0044547), RS domain binding (GO:0050733), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear speck (GO:0016607), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681), exon-exon junction complex (GO:0035145)

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
RNA processing	2
regulation of gene expression	2
RNA splicing	2
protein localization to organelle	2
binding	2
cellular anatomical structure	2
nuclear protein-containing complex	2
mRNA splicing, via spliceosome	1
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
mRNA splice site recognition	1
mRNA cis splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
chordate embryonic development	1
spliceosomal complex assembly	1
protein-RNA complex assembly	1
mRNA metabolic process	1
signal transduction	1
positive regulation of gene expression	1
regulation of RNA splicing	1
regulation of primary metabolic process	1
regulation of mRNA stability	1
RNA stabilization	1
negative regulation of mRNA catabolic process	1
central nervous system development	1
glial cell differentiation	1
RNA transport	1
striated muscle contraction	1
heart contraction	1
cytokine-mediated signaling pathway	1
cellular response to interleukin-17	1
liver development	1
animal organ regeneration	1
cellular response to cytokine stimulus	1
response to interleukin-17	1
nucleic acid binding	1
RNA binding	1
protein kinase binding	1
enzyme binding	1

Protein interactions and networks

STRING

4722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRSF1	H3C1	P02295	988
SRSF1	SNRNP70	P08621	985
SRSF1	H3-3A	P06351	981
SRSF1	PSIP1	O75475	953
SRSF1	H3-4	Q16695	952
SRSF1	H3-7	Q5TEC6	952
SRSF1	H3-5	Q6NXT2	952
SRSF1	H3C14	Q71DI3	950
SRSF1	SRPK1	Q96SB4	949
SRSF1	U2AF2	P26368	942
SRSF1	TNPO3	Q9Y5L0	940
SRSF1	U2AF1	Q01081	938
SRSF1	HNRNPA1	P09651	935
SRSF1	SRSF2	Q01130	930
SRSF1	NXF1	Q9UBU9	913

IntAct

323 interactions, top by confidence:

A	B	Type	Score
NFYA	NFYB	psi-mi:“MI:0915”(physical association)	0.840
NFYA	NFYB	psi-mi:“MI:0914”(association)	0.840
SRSF1	NXF1	psi-mi:“MI:0915”(physical association)	0.810
NXF1	SRSF1	psi-mi:“MI:0915”(physical association)	0.810
SCYL1	SEC31A	psi-mi:“MI:0914”(association)	0.710
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
RRP1B	SRSF1	psi-mi:“MI:0915”(physical association)	0.650
RRP1B	SRSF1	psi-mi:“MI:0403”(colocalization)	0.650
EIF4A3	HNRNPA1	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
U2AF1	SRSF1	psi-mi:“MI:0915”(physical association)	0.620
U2AF1	SRSF1	psi-mi:“MI:2364”(proximity)	0.620
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
SNRNP70	SRSF1	psi-mi:“MI:0915”(physical association)	0.600
SNRNP70	SRSF1	psi-mi:“MI:2364”(proximity)	0.600
	SRSF1	psi-mi:“MI:0403”(colocalization)	0.600
	SRSF1	psi-mi:“MI:0915”(physical association)	0.600
SRSF1		psi-mi:“MI:0403”(colocalization)	0.600
NFYA	SRSF1	psi-mi:“MI:0915”(physical association)	0.600

BioGRID (783): SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-Western), SRSF1 (Affinity Capture-RNA), SRSF1 (Affinity Capture-RNA), SRSF1 (Affinity Capture-RNA), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), LNX1 (Two-hybrid)

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

14 interactions.

A	Effect	B	Mechanism
DYRK1A	unknown	SRSF1	phosphorylation
PRKACA	up-regulates	SRSF1	phosphorylation
SRSF1	up-regulates	Alternative_Splicing_Regulation
IRAK2	“down-regulates activity”	SRSF1	phosphorylation
NEK2	“down-regulates activity”	SRSF1	phosphorylation
CDK11B	“up-regulates activity”	SRSF1	phosphorylation
CLK1	“up-regulates activity”	SRSF1	phosphorylation
SRPK2	“up-regulates activity”	SRSF1	phosphorylation
SRPK1	up-regulates	SRSF1	phosphorylation
SRP54	“up-regulates activity”	SRSF1	binding
CLK2	“up-regulates activity”	SRSF1	phosphorylation
CLK3	“up-regulates activity”	SRSF1	phosphorylation
CLK4	“up-regulates activity”	SRSF1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 179 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	27.1×	4e-05
Metabolism of non-coding RNA	5	25.6×	5e-05
Abortive elongation of HIV-1 transcript in the absence of Tat	5	20.0×	1e-04
RNA Polymerase II Transcription Termination	8	14.2×	5e-06
Formation of the Early Elongation Complex	5	13.5×	5e-04
Formation of the HIV-1 Early Elongation Complex	5	13.5×	5e-04
HIV Transcription Elongation	5	13.5×	5e-04
RHO GTPases activate PKNs	5	12.8×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of transcription elongation by RNA polymerase II	5	25.0×	2e-04
spliceosomal snRNP assembly	6	22.8×	4e-05
mRNA export from nucleus	7	13.5×	1e-04
regulation of alternative mRNA splicing, via spliceosome	8	12.8×	4e-05
autophagosome maturation	5	11.5×	7e-03
mitophagy	5	10.4×	8e-03
mRNA splicing, via spliceosome	17	10.2×	9e-10
regulation of RNA splicing	7	10.0×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	1
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
2429775	NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)	Pathogenic
2429776	NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)	Pathogenic
2429777	NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)	Pathogenic
2429778	NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)	Pathogenic
2429784	NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)	Pathogenic
2429786	NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)	Pathogenic
2429787	NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)	Pathogenic
3377265	NM_006924.5(SRSF1):c.366_367del (p.Arg122fs)	Likely pathogenic

SpliceAI

1144 predictions. Top by Δscore:

Variant	Effect	Δscore
17:58005969:CAGTC:C	acceptor_gain	1.0000
17:58005970:AGTC:A	acceptor_gain	1.0000
17:58005971:GTC:G	acceptor_gain	1.0000
17:58005972:TC:T	acceptor_gain	1.0000
17:58005973:CC:C	acceptor_gain	1.0000
17:58005974:C:CC	acceptor_gain	1.0000
17:58006338:CTCA:C	donor_loss	1.0000
17:58006339:TCACC:T	donor_loss	1.0000
17:58006340:CA:C	donor_loss	1.0000
17:58006341:A:AC	donor_gain	1.0000
17:58006341:A:AG	donor_loss	1.0000
17:58006342:C:A	donor_loss	1.0000
17:58006342:C:CC	donor_gain	1.0000
17:58006523:CGTCT:C	acceptor_gain	1.0000
17:58006526:CT:C	acceptor_gain	1.0000
17:58006537:C:CT	acceptor_gain	1.0000
17:58006909:ATTT:A	donor_gain	1.0000
17:58006942:A:AC	donor_gain	1.0000
17:58006943:C:CC	donor_gain	1.0000
17:58006961:A:AC	donor_gain	1.0000
17:58006962:A:C	donor_gain	1.0000
17:58003773:C:CT	acceptor_gain	0.9900
17:58004012:A:T	acceptor_gain	0.9900
17:58005794:AACCT:A	donor_loss	0.9900
17:58005796:CCT:C	donor_loss	0.9900
17:58005797:CTACC:C	donor_loss	0.9900
17:58005798:TAC:T	donor_loss	0.9900
17:58005799:AC:A	donor_loss	0.9900
17:58005819:A:AC	donor_gain	0.9900
17:58005982:G:C	acceptor_gain	0.9900

AlphaMissense

1587 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:58005806:G:C	H183D	1.000
17:58005813:A:C	F180L	1.000
17:58005813:A:T	F180L	1.000
17:58005814:A:G	F180S	1.000
17:58005815:A:G	F180L	1.000
17:58005829:A:G	L175P	1.000
17:58005841:G:T	A171E	1.000
17:58005867:A:C	F162L	1.000
17:58005867:A:T	F162L	1.000
17:58005868:A:C	F162C	1.000
17:58005868:A:G	F162S	1.000
17:58005869:A:G	F162L	1.000
17:58005880:C:T	G158D	1.000
17:58005881:C:G	G158R	1.000
17:58005904:G:T	A150D	1.000
17:58005905:C:G	A150P	1.000
17:58005913:A:T	V147E	1.000
17:58005919:C:A	G145V	1.000
17:58005919:C:T	G145D	1.000
17:58005920:C:G	G145R	1.000
17:58005928:C:G	R142P	1.000
17:58005929:G:A	R142C	1.000
17:58005929:G:T	R142S	1.000
17:58005935:G:C	H140D	1.000
17:58005936:A:C	D139E	1.000
17:58005936:A:T	D139E	1.000
17:58005937:T:A	D139V	1.000
17:58005937:T:C	D139G	1.000
17:58005937:T:G	D139A	1.000
17:58005938:C:G	D139H	1.000

dbSNP variants (sampled 300 via entrez): RS1000187288 (17:57996837 A>C,G), RS1000191054 (17:57994134 A>G), RS1000255549 (17:57990028 T>C), RS1000286552 (17:57990465 C>A), RS1000313370 (17:57993579 G>T), RS1000390268 (17:58005730 AC>A), RS1000891438 (17:58007666 C>G), RS1000894838 (17:57996609 T>G), RS1000962650 (17:57988574 C>A,T), RS1001078570 (17:57988680 C>G,T), RS1001243110 (17:58003465 C>A,T), RS1001474886 (17:58003020 A>G), RS1001551336 (17:58007470 C>A,T), RS1001775426 (17:58009217 C>T), RS1001836922 (17:57992021 A>G)

Disease associations

OMIM: gene MIM:600812 | disease phenotypes: MIM:620489

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	Strong	Autosomal dominant

Mondo (3): intellectual disability (MONDO:0001071), neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (MONDO:0957583), autism spectrum disorder (MONDO:0005258)

Orphanet (2): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010396_130	Gut microbiota (bacterial taxa, hurdle binary method)	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295805 (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

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

pChembl	Type	Value	Unit	Molecule
7.25	Kd	56.22	nM	CHEMBL5653589
7.25	ED50	56.22	nM	CHEMBL5653589
5.58	Kd	2650	nM	MOLIBRESIB
5.40	IC50	4000	nM	MOLIBRESIB
5.04	Kd	9124	nM	CHEMBL3752910
5.04	ED50	9124	nM	CHEMBL3752910

PubChem BioAssay actives

4 with measured affinity, of 12 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149490: Binding affinity to human SRSF1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0562	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	2179156: Binding affinity against SFRS1 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	2.6500	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149490: Binding affinity to human SRSF1 incubated for 45 mins by Kinobead based pull down assay	kd	9.1245	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	5
cobaltous chloride	decreases expression	3
Cadmium Chloride	increases methylation, decreases expression, increases abundance, increases expression	3
bisphenol A	decreases expression, increases expression	2
sodium arsenite	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Cisplatin	increases expression	2
Copper	affects binding, decreases expression	2
Doxorubicin	decreases expression, increases response to substance	2
Estradiol	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
biochanin A	decreases expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
hexamethylene bisacetamide	increases expression	1
arsenite	affects binding, decreases reaction	1
methylparaben	decreases expression	1
afimoxifene	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
diallyl trisulfide	increases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1

ChEMBL screening assays

9 unique, capped per target: 9 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4155373	Binding	Binding affinity to serine/arginine-rich-splicing factor 1 in human A549 cells at 0.15 mM after 4 hrs by HPLC-MS based pull down assay relative to control	Synthesis, cytotoxic evaluation and target identification of thieno[2,3-d]pyrimidine derivatives with a dithiocarbamate side chain at C2 position. — Eur J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders