SMARCC1

Summary

SMARCC1 (SWI/SNF related BAF chromatin remodeling complex subunit C1, HGNC:11104) is a protein-coding gene on chromosome 3p21.31, encoding SWI/SNF complex subunit SMARCC1 (Q92922). Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). It is a selective cancer dependency (DepMap: 10.3% of cell lines).

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors.

Source: NCBI Gene 6599 — RefSeq curated summary.

At a glance

• Gene–disease (curated): SMARCC1-associated developmental dysgenesis syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 234 total — 2 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 5
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 10.3% of screened cell lines
• MANE Select transcript: NM_003074

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11104
Approved symbol	SMARCC1
Name	SWI/SNF related BAF chromatin remodeling complex subunit C1
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	BAF155, SRG3, Rsc8, CRACC1
Ensembl gene	ENSG00000173473
Ensembl biotype	protein_coding
OMIM	601732
Entrez	6599

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 35 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000254480, ENST00000425518, ENST00000454240, ENST00000462198, ENST00000483847, ENST00000485737, ENST00000485833, ENST00000492896, ENST00000855762, ENST00000855763, ENST00000855764, ENST00000855765, ENST00000855766, ENST00000855767, ENST00000855768, ENST00000855769, ENST00000855770, ENST00000938785, ENST00000938786, ENST00000938787, ENST00000938788, ENST00000938789, ENST00000938790, ENST00000938791, ENST00000938792, ENST00000938793, ENST00000938794, ENST00000938795, ENST00000938796, ENST00000938797, ENST00000938798, ENST00000938799, ENST00000938800, ENST00000938801, ENST00000938802, ENST00000938803, ENST00000938804, ENST00000938805, ENST00000938806, ENST00000938807, ENST00000963362, ENST00000963363

RefSeq mRNA: 1 — MANE Select: NM_003074 NM_003074

CCDS: CCDS2758

Canonical transcript exons

ENST00000254480 — 28 exons

Exon	Start	End
ENSE00001232808	47585269	47588306
ENSE00001294910	47781603	47781893
ENSE00003463600	47635190	47635344
ENSE00003491143	47680437	47680508
ENSE00003495507	47622207	47622341
ENSE00003496083	47670658	47670717
ENSE00003514001	47636022	47636136
ENSE00003516949	47714415	47714490
ENSE00003536304	47638725	47638780
ENSE00003537581	47590661	47590837
ENSE00003567860	47745908	47745993
ENSE00003580005	47662334	47662592
ENSE00003592693	47701278	47701402
ENSE00003594232	47610066	47610327
ENSE00003603995	47772817	47772936
ENSE00003612831	47738029	47738110
ENSE00003615200	47678198	47678311
ENSE00003623899	47729025	47729094
ENSE00003630278	47661294	47661455
ENSE00003632563	47675475	47675588
ENSE00003640598	47706409	47706530
ENSE00003653179	47736034	47736126
ENSE00003659342	47689387	47689424
ENSE00003660671	47720666	47720735
ENSE00003662664	47710683	47710808
ENSE00003672806	47693241	47693300
ENSE00003685665	47686049	47686170
ENSE00003689371	47676629	47676782

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.6760 / max 412.5167, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42057	32.1425	1819
42056	0.4973	226
42058	0.0362	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.12	gold quality
embryo	UBERON:0000922	95.92	gold quality
ganglionic eminence	UBERON:0004023	95.78	gold quality
colonic epithelium	UBERON:0000397	95.03	gold quality
sural nerve	UBERON:0015488	93.96	gold quality
tonsil	UBERON:0002372	93.87	gold quality
penis	UBERON:0000989	93.40	gold quality
sperm	CL:0000019	93.25	gold quality
gingival epithelium	UBERON:0001949	93.18	gold quality
gingiva	UBERON:0001828	92.85	gold quality
endometrium	UBERON:0001295	92.66	gold quality
adrenal tissue	UBERON:0018303	92.63	gold quality
nipple	UBERON:0002030	92.47	gold quality
bone marrow cell	CL:0002092	91.91	gold quality
male germ cell	CL:0000015	91.88	gold quality
calcaneal tendon	UBERON:0003701	91.58	gold quality
pigmented layer of retina	UBERON:0001782	91.37	gold quality
upper leg skin	UBERON:0004262	91.30	gold quality
saphenous vein	UBERON:0007318	91.14	gold quality
cortical plate	UBERON:0005343	91.13	gold quality
stromal cell of endometrium	CL:0002255	91.07	gold quality
esophagus squamous epithelium	UBERON:0006920	91.05	gold quality
seminal vesicle	UBERON:0000998	90.91	gold quality
urinary bladder	UBERON:0001255	90.68	gold quality
pylorus	UBERON:0001166	90.65	gold quality
rectum	UBERON:0001052	90.41	gold quality
tendon	UBERON:0000043	90.37	gold quality
caecum	UBERON:0001153	90.31	gold quality
epithelium of nasopharynx	UBERON:0001951	90.29	gold quality
nasopharynx	UBERON:0001728	90.28	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	19.86
E-HCAD-10	yes	18.09
E-CURD-114	yes	9.37
E-CURD-112	yes	8.18
E-MTAB-10042	yes	5.58
E-MTAB-3929	no	329.19
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets.

Target	Regulation
AR	Activation
KLF1	Activation
KLK3
KRAS
OPRM1
RAB18	Activation
SMARCA4
SMARCB1
SMARCC1

Upstream regulators (CollecTRI, top): AR, ID3, NANOG, NCOA1, PAX3, SMARCC1, SP1, SP3, TCF12, TCF3

miRNA regulators (miRDB)

144 targeting SMARCC1, 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-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 24)

• protein levels of BAF155/170 dictate the maximum cellular amount of BAF57 (PMID:16199878)
• BAF155 and potentially INI1 are substrates for Akt phosphorylation (PMID:16568092)
• Constitutive expression of SRG3 inhibits positive selection processes in T-cell receptor transgenic mice. (PMID:17513758)
• An increased expression of SMARCC1 protein was found in prostate cancer positively correlated with tumour dedifferentiation, progression, metastasis and time to recurrence. (PMID:18581278)
• patients with tumours displaying high levels of CBFB and SMARCC1 proteins had a significantly better overall survival rate than patients with low levels (PMID:19156145)
• Data show that the mechanism of BAF155-mediated stabilization of BAF57 involves blocking its ubiquitination by preventing interaction with TRIP12. (PMID:20829358)
• loss of BAF155 expression represents another mechanism for inactivation of SWI/SNF complex activity in the development in human cancer. (PMID:22139574)
• miR-320c regulates the resistance of pancreatic cancer cells to gemcitabine through SMARCC1. (PMID:23799850)
• Results show the secondary structure of SWIRM domain of BAF155 consists of five alpha-helices forming a typical histone fold for DNA interactions. (PMID:23996527)
• Wwp2 acts as a ubiquitin ligase of SRG3. (PMID:24365151)
• we identify BAF155 as a substrate for arginine methyltransferase CARM1. (PMID:24434208)
• NKX6.1 directly enhances the mRNA level of E-cadherin by recruiting BAF155 coactivator and represses that of vimentin and N-cadherin by recruiting RBBP7 (retinoblastoma binding protein 7) corepressor. (PMID:26257059)
• our data showed that Swi3 strongly affects haem/oxygen-dependent activation of respiration gene promoters whereas Swi2 affects only the basal, haem-independent activities of these promoters. using computational analysis and RNAi knockdown, we showed that the mammalian Swi3 BAF155 and BAF170 regulate respiration in HeLa cells. (PMID:27190130)
• Here, the authors first confirmed that SWIRM domain of BAF155 is responsible for its interaction with BAF47 and then narrowed down the SWIRM-binding region in BAF47 to the Repeat 1 (RPT1) domain. (PMID:28438634)
• Study found SMARCC1 as a direct target of miR-202-5p and promoted the growth and metastasis of colorectal carcinoma (CRC) cells. Furthermore, SMARCC1 could reverse the inhibitory effect of miR-202-5p on growth and metastasis of CRC cells. (PMID:30144500)
• BAF155 plays important roles in ubiquitin-independent degradation of hepatitis B virus X protein (PMID:31533543)
• A Coil-to-Helix Transition Serves as a Binding Motif for hSNF5 and BAF155 Interaction. (PMID:32244797)
• Multiple interactions of the oncoprotein transcription factor MYC with the SWI/SNF chromatin remodeler. (PMID:33931740)
• SWI/SNF subunit BAF155 N-terminus structure informs the impact of cancer-associated mutations and reveals a potential drug binding site. (PMID:33953332)
• Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex. (PMID:35158202)
• RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex. (PMID:36800290)
• First reports of fetal SMARCC1 related hydrocephalus. (PMID:37285932)
• SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance. (PMID:37639281)
• A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. (PMID:38128548)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	smarcc1a	ENSDARG00000017397
danio_rerio	smarcc1b	ENSDARG00000098919
mus_musculus	Smarcc1	ENSMUSG00000032481
rattus_norvegicus	Smarcc1	ENSRNOG00000020804

Paralogs (3): MPND (ENSG00000008382), SMARCC2 (ENSG00000139613), MYSM1 (ENSG00000162601)

Protein

Protein identifiers

SWI/SNF complex subunit SMARCC1 — Q92922 (reviewed: Q92922)

Alternative names: BRG1-associated factor 155, SWI/SNF complex 155 kDa subunit, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1

All UniProt accessions (2): Q92922, F8WE13

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth.

Subunit / interactions. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. The minimal complex composed of SMARCC1 and SMARCA4 seems to be able to associate with cyclin such as CCNE1 or transcription factors such as KLF1 or GATA1. Interacts with NR3C1 and SMARD1. Interacts with TRIP12; leading to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination. Interacts with CEBPB (when not methylated). Interacts with KDM6B. Interacts with MKKS; the interaction takes place predominantly in the cytoplasm and may modulate SMARCC1 location. Interacts with DPF2. Interacts with PRDM1/BLIMP1. Interacts with DPF3a (isoform 2 of DPF3/BAF45C) and with HDGFL2 in a DPF3a-dependent manner.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas.

Post-translational modifications. Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell cycle specific inactivation of remodeling complexes containing the phosphorylated protein.

Disease relevance. Hydrocephalus, congenital, 5 (HYC5) [MIM:620241] A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity. Belongs to the SMARCC family.

RefSeq proteins (1): NP_003065* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000953	Chromo/chromo_shadow_dom	Domain
IPR001005	SANT/Myb	Domain
IPR007526	SWIRM	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017884	SANT_dom	Domain
IPR032448	SWIRM-assoc	Domain
IPR032450	SMARCC_N	Domain
IPR032451	SMARCC_C	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036420	BRCT_dom_sf	Homologous_superfamily
IPR049898	MARR_BRCT_CHROMO	Domain

Pfam: PF00249, PF04433, PF16495, PF16496, PF16498

UniProt features (92 total): helix 25, modified residue 17, strand 9, compositionally biased region 7, cross-link 7, sequence conflict 7, domain 6, region of interest 5, sequence variant 5, initiator methionine 1, chain 1, coiled-coil region 1, turn 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
6YXP	X-RAY DIFFRACTION	1.6
6YXO	X-RAY DIFFRACTION	2
5GJK	X-RAY DIFFRACTION	2.05
6KZ7	X-RAY DIFFRACTION	2.28
2YUS	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92922-F1	66.98	0.32

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 (24): 2, 310, 328, 330, 335, 345, 346, 350, 354, 357, 359, 398, 573, 822, 825, 948, 1064, 179, 359, 592 …

Function

Pathways and Gene Ontology

Reactome pathways

20 pathways

ID	Pathway
R-HSA-3214858	RMTs methylate histone arginines
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9933937	Formation of the canonical BAF (cBAF) complex
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9933947	Formation of the non-canonical BAF (ncBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9842860	Regulation of endogenous retroelements
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 412 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, ACTACCT_MIR196A_MIR196B, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GCM_MSN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, PID_REG_GR_PATHWAY, CAGGTCC_MIR492

GO Biological Process (23): nucleosome disassembly (GO:0006337), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), positive regulation of cell population proliferation (GO:0008284), insulin receptor signaling pathway (GO:0008286), animal organ morphogenesis (GO:0009887), regulation of mitotic metaphase/anaphase transition (GO:0030071), prostate gland development (GO:0030850), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), positive regulation of T cell differentiation (GO:0045582), negative regulation of cell differentiation (GO:0045596), positive regulation of cell differentiation (GO:0045597), positive regulation of myoblast differentiation (GO:0045663), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of G0 to G1 transition (GO:0070316), positive regulation of stem cell population maintenance (GO:1902459), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), histone binding (GO:0042393), protein binding (GO:0005515), nucleosomal DNA binding (GO:0031492)

GO Cellular Component (15): kinetochore (GO:0000776), chromatin (GO:0000785), male germ cell nucleus (GO:0001673), XY body (GO:0001741), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear matrix (GO:0016363), SWI/SNF complex (GO:0016514), RSC-type complex (GO:0016586), protein-containing complex (GO:0032991), brahma complex (GO:0035060), npBAF complex (GO:0071564), nBAF complex (GO:0071565), GBAF complex (GO:0140288)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	5
Gene expression (Transcription)	2
Chromatin modifying enzymes	1
Transcriptional regulation by RUNX1	1
MITF-M-dependent gene expression	1
Regulation of endogenous retroelements	1
RNA Polymerase II Transcription	1
Chromatin organization	1
Generic Transcription Pathway	1
Developmental Biology	1
Epigenetic regulation of gene expression	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
SWI/SNF superfamily-type complex	6
cellular anatomical structure	4
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
positive regulation of cellular process	2
regulation of mitotic cell cycle phase transition	2
cell differentiation	2
regulation of cell differentiation	2
positive regulation of developmental process	2
positive regulation of DNA-templated transcription	2
binding	2
nuclear lumen	2
protein-DNA complex disassembly	1
nucleosome organization	1
chromatin organization	1
system development	1
cell population proliferation	1
regulation of cell population proliferation	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to insulin stimulus	1
anatomical structure morphogenesis	1
animal organ development	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of metaphase/anaphase transition of cell cycle	1
urogenital system development	1
reproductive structure development	1
gland development	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
T cell differentiation	1
regulation of T cell differentiation	1
positive regulation of lymphocyte differentiation	1
positive regulation of T cell activation	1
negative regulation of cellular process	1
negative regulation of developmental process	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1

Protein interactions and networks

STRING

2936 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMARCC1	SMARCA4	P51532	999
SMARCC1	SMARCB1	Q12824	999
SMARCC1	SMARCE1	Q969G3	999
SMARCC1	SMARCD1	Q96GM5	999
SMARCC1	ACTL6A	O96019	997
SMARCC1	SMARCA2	P51531	997
SMARCC1	ARID1A	O14497	996
SMARCC1	SMARCD2	Q92925	990
SMARCC1	SMARCC2	Q8TAQ2	983
SMARCC1	SMARCD3	Q6STE5	968
SMARCC1	PBRM1	Q86U86	967
SMARCC1	ARID1B	Q8NFD5	965
SMARCC1	ARID2	Q68CP9	964
SMARCC1	BRD9	Q9H8M2	928
SMARCC1	DPF2	Q92785	922

IntAct

358 interactions, top by confidence:

A	B	Type	Score
SMARCA4	SMARCB1	psi-mi:“MI:0914”(association)	0.960
SMARCB1	SMARCA4	psi-mi:“MI:0914”(association)	0.960
ARID1A	SMARCA4	psi-mi:“MI:0914”(association)	0.940
SMARCA4	SMARCC1	psi-mi:“MI:0915”(physical association)	0.930
SMARCA4	SMARCC1	psi-mi:“MI:2364”(proximity)	0.930
SMARCD1	SMARCC1	psi-mi:“MI:0915”(physical association)	0.910
SMARCD1	SMARCA4	psi-mi:“MI:0914”(association)	0.900
SMARCB1	SMARCC2	psi-mi:“MI:0914”(association)	0.900
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
SMARCC1	ARID1A	psi-mi:“MI:0914”(association)	0.790
DPF2	ARID1A	psi-mi:“MI:0914”(association)	0.730
ADAMTSL4	SMARCC1	psi-mi:“MI:0915”(physical association)	0.720
SMARCC1	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.720
NR2E1	KDM1A	psi-mi:“MI:0914”(association)	0.680
DPF2	SMARCA2	psi-mi:“MI:0914”(association)	0.640
SMARCD3	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
NCOR1	SMARCA4	psi-mi:“MI:0915”(physical association)	0.630
JUN	NFATC1	psi-mi:“MI:0914”(association)	0.610
PLSCR1	SMARCC1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (705): SMARCC1 (Two-hybrid), SMARCC1 (Two-hybrid), ADAMTSL4 (Two-hybrid), SMARCC1 (Affinity Capture-RNA), SMARCC1 (Affinity Capture-RNA), SMARCC1 (Two-hybrid), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS), SMARCC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A1A5R8, A9ZLX4, D3YXJ0, E9PUQ8, G3UZ78, O00750, O15164, O54828, P30052, P40818, P48984, P52963, P59997, P97496, Q02225, Q08AX9, Q08BR4, Q08D35, Q16760, Q1LUC3, Q2I6J1, Q3UWM4, Q498F0, Q5JSH3, Q5JTW2, Q5RHD1, Q60665, Q64398, Q68FF0, Q6INA9, Q6NSI8, Q6NVE8, Q6PDG5, Q6ZMT4, Q7ZVP1, Q80U87, Q86XP1, Q8C5W4, Q8N7X0

Diamond homologs: A0A0G3VTN5, A0JMR6, B6MUN4, D4GTS4, P32591, P97496, Q08CH3, Q54Z40, Q5F3F2, Q5RGA4, Q5VVJ2, Q69Z66, Q6CRJ8, Q6PDG5, Q6R0H0, Q84JG2, Q8H0W3, Q8RWU3, Q8SQY3, Q8TAQ2, Q92922, Q9FVU9, Q3TV65, Q8N594, Q8U1Y4, O13788, O14470, P43609, Q8W475, Q0JCC3, Q54J55, Q75LL6, Q8VY05, Q9ATB4, Q9SFD5, Q53KK6, Q9P7J7, Q9XI07, B3H5A8, F4J2J6

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
SMARCC1	“form complex”	“SWI/SNF complex”	binding
SMARCC1	“up-regulates quantity by stabilization”	SMARCE1
CARM1	“up-regulates activity”	SMARCC1	methylation
SMARCC1	“form complex”	GBAF	binding
SMARCC1	“form complex”	“SWI/SNF ACTL6A-ARID1A-SMARCA2 variant”	binding
SMARCC1	“form complex”	“SWI/SNF ACTL6B varian”	binding
SMARCC1	“form complex”	“Neural progenitor-specific SWI/SNF”	binding
SMARCC1	“form complex”	“Muscle cell-specific SWI/SNF ARID1A variant”	binding
SMARCC1	“form complex”	“Muscle cell-specific SWI/SNF ARID1B variant”	binding
SMARCC1	“form complex”	“Muscle cell-specific SWI/SNF SMARCA4 variant”	binding
SMARCA2	up-regulates	SMARCC1	binding
SMARCA4	up-regulates	SMARCC1	binding
SMARCC1	“form complex”	“Embryonic stem cell-specific SWI/SNF”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
Formation of the embryonic stem cell BAF (esBAF) complex	14	105.2×	7e-25
Formation of the canonical BAF (cBAF) complex	13	103.1×	6e-23
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	17	97.1×	2e-29
Formation of the polybromo-BAF (pBAF) complex	12	95.2×	1e-20
Formation of the non-canonical BAF (ncBAF) complex	10	84.0×	3e-16
Regulation of endogenous retroelements	13	59.9×	7e-19
Regulation of MITF-M-dependent genes involved in pigmentation	16	53.1×	2e-22
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	10	37.6×	3e-12

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	16	117.2×	3e-28
regulation of nucleotide-excision repair	16	104.7×	3e-27
regulation of mitotic metaphase/anaphase transition	16	86.2×	1e-25
nucleosome disassembly	8	69.8×	9e-12
positive regulation of double-strand break repair	16	59.8×	1e-22
positive regulation of T cell differentiation	12	59.4×	6e-17
regulation of G1/S transition of mitotic cell cycle	16	53.3×	7e-22
positive regulation of myoblast differentiation	13	51.8×	2e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	7
Uncertain significance	156
Likely benign	19
Benign	3

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
3320826	NM_003074.4(SMARCC1):c.430C>T (p.Arg144Ter)	Pathogenic
4689821	NM_003074.4(SMARCC1):c.2914_2915dup (p.Gln972fs)	Pathogenic
1321260	NM_003074.4(SMARCC1):c.2693_2696delinsC (p.Leu898_Leu899delinsPro)	Likely pathogenic
3025780	NM_003074.4(SMARCC1):c.967C>T (p.Arg323Ter)	Likely pathogenic
4526630	NM_003074.4(SMARCC1):c.888dup (p.Arg297fs)	Likely pathogenic
4536632	NM_003074.4(SMARCC1):c.1676T>A (p.Leu559Ter)	Likely pathogenic
684690	NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)	Likely pathogenic
684693	NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	Likely pathogenic
684694	NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)	Likely pathogenic

SpliceAI

5096 predictions. Top by Δscore:

Variant	Effect	Δscore
3:47590660:CA:C	donor_gain	1.0000
3:47590660:CACAT:C	donor_gain	1.0000
3:47590833:CTGAC:C	acceptor_gain	1.0000
3:47590834:TGAC:T	acceptor_gain	1.0000
3:47590836:ACCT:A	acceptor_loss	1.0000
3:47590838:C:CC	acceptor_gain	1.0000
3:47590838:CTGT:C	acceptor_loss	1.0000
3:47590839:T:G	acceptor_loss	1.0000
3:47610060:TCTTA:T	donor_loss	1.0000
3:47610061:CTTAC:C	donor_loss	1.0000
3:47610062:TTA:T	donor_loss	1.0000
3:47610063:TA:T	donor_loss	1.0000
3:47610065:C:CT	donor_loss	1.0000
3:47610065:CCTGG:C	donor_gain	1.0000
3:47610328:C:CC	acceptor_gain	1.0000
3:47622201:A:AC	donor_gain	1.0000
3:47622201:ACTT:A	donor_loss	1.0000
3:47622202:C:CC	donor_gain	1.0000
3:47622203:TTA:T	donor_loss	1.0000
3:47622204:TA:T	donor_loss	1.0000
3:47622205:A:AC	donor_gain	1.0000
3:47622205:ACAG:A	donor_gain	1.0000
3:47622205:ACAGC:A	donor_loss	1.0000
3:47622206:C:CG	donor_gain	1.0000
3:47622206:CA:C	donor_gain	1.0000
3:47622206:CAG:C	donor_gain	1.0000
3:47622206:CAGC:C	donor_gain	1.0000
3:47622206:CAGCT:C	donor_gain	1.0000
3:47622337:AGGTG:A	acceptor_gain	1.0000
3:47622338:GGTG:G	acceptor_gain	1.0000

AlphaMissense

7284 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:47610261:C:G	A950P	1.000
3:47610269:A:G	L947P	1.000
3:47610272:T:G	Q946P	1.000
3:47610281:T:G	H943P	1.000
3:47610282:G:C	H943D	1.000
3:47610283:G:C	F942L	1.000
3:47610283:G:T	F942L	1.000
3:47610284:A:C	F942C	1.000
3:47610284:A:G	F942S	1.000
3:47610285:A:G	F942L	1.000
3:47610290:T:G	Q940P	1.000
3:47610293:C:G	R939P	1.000
3:47610294:G:T	R939S	1.000
3:47610302:A:G	L936P	1.000
3:47610305:A:G	L935S	1.000
3:47610311:T:G	Q933P	1.000
3:47610313:C:A	R932S	1.000
3:47610313:C:G	R932S	1.000
3:47610314:C:A	R932M	1.000
3:47610314:C:G	R932T	1.000
3:47610317:T:G	Q931P	1.000
3:47610326:A:G	L928P	1.000
3:47610326:A:T	L928Q	1.000
3:47622209:C:G	A927P	1.000
3:47622216:C:A	E924D	1.000
3:47622216:C:G	E924D	1.000
3:47622217:T:A	E924V	1.000
3:47622217:T:G	E924A	1.000
3:47622218:C:T	E924K	1.000
3:47622225:C:A	M921I	1.000

dbSNP variants (sampled 300 via entrez): RS1000020989 (3:47700302 C>T), RS1000022032 (3:47736866 T>C), RS1000024448 (3:47673227 A>G), RS1000051239 (3:47681223 T>C), RS1000075319 (3:47772724 C>A,G,T), RS1000098500 (3:47645676 G>A), RS1000116535 (3:47736550 C>T), RS1000121287 (3:47706343 A>G,T), RS1000128116 (3:47590516 A>C,G), RS1000131299 (3:47766805 G>A,C), RS1000186374 (3:47723845 C>A,T), RS1000202042 (3:47756469 G>A,C,T), RS1000207477 (3:47765384 A>T), RS1000308605 (3:47609056 T>C), RS1000332191 (3:47652415 A>G)

Disease associations

OMIM: gene MIM:601732 | disease phenotypes: MIM:620241, MIM:236600

GenCC curated gene-disease

Disease	Classification	Inheritance
SMARCC1-associated developmental dysgenesis syndrome	Definitive	Autosomal dominant
hydrocephalus, congenital, 5, susceptibility to	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
SMARCC1-associated developmental dysgenesis syndrome	Definitive	AD

Mondo (4): SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123), autism spectrum disorder (MONDO:0005258), hydrocephalus, congenital, 5, susceptibility to (MONDO:0859376), congenital hydrocephalus (MONDO:0016349)

Orphanet (2): Congenital hydrocephalus (Orphanet:2185), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0002410	Aqueductal stenosis
HP:0003577	Congenital onset
HP:0003829	Typified by incomplete penetrance
HP:0010953	Noncommunicating hydrocephalus

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST009524_218	Household income (MTAG)	9.000000e-09
GCST010276_1	Renal underexcretion gout	2.000000e-07
GCST010662_2	Systolic blood pressure	9.000000e-07
GCST90000050_20	Age at first birth	7.000000e-11
GCST90020025_1945	Waist-to-hip ratio adjusted for BMI	6.000000e-09
GCST90020027_101	Waist-hip index	7.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009695	household income
EFO:0006335	systolic blood pressure
EFO:0009101	age at first birth measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725104 (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

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.35	Kd	45	nM	MOLIBRESIB
6.92	IC50	120	nM	MOLIBRESIB
6.27	Kd	538.1	nM	CHEMBL5653589
6.27	ED50	538.1	nM	CHEMBL5653589

PubChem BioAssay actives

3 with measured affinity, of 9 total; 2 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179159: Binding affinity against SMARCC1 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0450	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149441: Binding affinity to human SMARCC1 incubated for 45 mins by Kinobead based pull down assay	kd	0.5381	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	7
cobaltous chloride	affects binding, increases reaction, decreases expression	3
Tretinoin	decreases expression, increases expression	3
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
lasiocarpine	decreases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
deoxynivalenol	increases expression	1
riddelliine	increases metabolic processing, decreases expression	1
coumarin	decreases phosphorylation	1
testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	affects expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
deguelin	increases expression	1
torcetrapib	increases expression	1
bisphenol S	decreases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases response to substance	1
Fulvestrant	increases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Hydralazine	affects cotreatment, increases expression	1
Ketoconazole	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652483	Binding	Binding affinity to human SMARCC1 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

Cellosaurus cell lines

10 cell lines: 6 cancer cell line, 3 embryonic stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A6I4	SEES3-1V human SMARCC1, clone1	Embryonic stem cell	Male
CVCL_A6I5	SEES3-1V human SMARCC1, clone2	Embryonic stem cell	Male
CVCL_A6I6	SEES3-1V human SMARCC1, clone3	Embryonic stem cell	Male
CVCL_B1BJ	Abcam HEK293 SMARCC1 KO	Transformed cell line	Female
CVCL_B2GM	Abcam HeLa SMARCC1 KO	Cancer cell line	Female
CVCL_B8PQ	Abcam HCT 116 SMARCC1 KO	Cancer cell line	Male
CVCL_B9BN	Abcam MCF-7 SMARCC1 KO	Cancer cell line	Female
CVCL_B9S6	Abcam A-549 SMARCC1 KO	Cancer cell line	Male
CVCL_TP55	HAP1 SMARCC1 (-) 1	Cancer cell line	Male
CVCL_TP56	HAP1 SMARCC1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
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