SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2)

Gene

• Entrez ID: 6601
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit C2
• Gene symbol: SMARCC2
• Synonyms (NCBI Gene): BAF170, CRACC2, CSS8, Rsc8
• Chromosome: 12
• Chromosome location: 12q13.2
• Summary: 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. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1206884190	G>A,C	Pathogenic	Intron variant
rs1565896447	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565903353	A>C,G	Pathogenic	Splice donor variant
rs1565903367	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565917836	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1592324196	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025434	hsa-miR-34a-5p	Proteomics	21566225
MIRT025434	hsa-miR-34a-5p	Proteomics	21566225
MIRT052076	hsa-let-7b-5p	CLASH	23622248
MIRT045221	hsa-miR-186-5p	CLASH	23622248
MIRT044683	hsa-miR-320a	CLASH	23622248
MIRT040733	hsa-miR-92b-3p	CLASH	23622248
MIRT040220	hsa-miR-615-3p	CLASH	23622248
MIRT040220	hsa-miR-615-3p	CLASH	23622248
MIRT040220	hsa-miR-615-3p	CLASH	23622248
MIRT641913	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT641912	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT641911	hsa-miR-126-5p	HITS-CLIP	23824327
MIRT641910	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT641909	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT641908	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT641907	hsa-miR-5682	HITS-CLIP	23824327
MIRT641913	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT641912	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT641911	hsa-miR-126-5p	HITS-CLIP	23824327
MIRT641910	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT641909	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT641908	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT641907	hsa-miR-5682	HITS-CLIP	23824327
MIRT1371803	hsa-miR-1972	CLIP-seq
MIRT1371804	hsa-miR-3164	CLIP-seq
MIRT1371805	hsa-miR-4633-3p	CLIP-seq
MIRT1371806	hsa-miR-4755-3p	CLIP-seq
MIRT1371807	hsa-miR-548ac	CLIP-seq
MIRT1371808	hsa-miR-548ae	CLIP-seq
MIRT1371809	hsa-miR-548aj	CLIP-seq
MIRT1371810	hsa-miR-548am	CLIP-seq
MIRT1371811	hsa-miR-548d-3p	CLIP-seq
MIRT1371812	hsa-miR-548x	CLIP-seq
MIRT1371813	hsa-miR-548z	CLIP-seq
MIRT1371814	hsa-miR-610	CLIP-seq
MIRT1371815	hsa-miR-1236	CLIP-seq
MIRT1371816	hsa-miR-133a	CLIP-seq
MIRT1371817	hsa-miR-133b	CLIP-seq
MIRT1371803	hsa-miR-1972	CLIP-seq
MIRT1371818	hsa-miR-2355-5p	CLIP-seq
MIRT1371819	hsa-miR-296-3p	CLIP-seq
MIRT1371820	hsa-miR-3120-3p	CLIP-seq
MIRT1371821	hsa-miR-3147	CLIP-seq
MIRT1371822	hsa-miR-3160-3p	CLIP-seq
MIRT1371823	hsa-miR-342-5p	CLIP-seq
MIRT1371824	hsa-miR-3679-3p	CLIP-seq
MIRT1371825	hsa-miR-3913-3p	CLIP-seq
MIRT1371826	hsa-miR-3915	CLIP-seq
MIRT1371827	hsa-miR-3928	CLIP-seq
MIRT1371828	hsa-miR-4286	CLIP-seq
MIRT1371829	hsa-miR-4436b-5p	CLIP-seq
MIRT1371830	hsa-miR-4446-5p	CLIP-seq
MIRT1371831	hsa-miR-4459	CLIP-seq
MIRT1371832	hsa-miR-4464	CLIP-seq
MIRT1371833	hsa-miR-4487	CLIP-seq
MIRT1371805	hsa-miR-4633-3p	CLIP-seq
MIRT1371834	hsa-miR-4643	CLIP-seq
MIRT1371835	hsa-miR-4651	CLIP-seq
MIRT1371836	hsa-miR-466	CLIP-seq
MIRT1371837	hsa-miR-4663	CLIP-seq
MIRT1371838	hsa-miR-4664-5p	CLIP-seq
MIRT1371839	hsa-miR-4722-5p	CLIP-seq
MIRT1371840	hsa-miR-4731-5p	CLIP-seq
MIRT1371841	hsa-miR-4748	CLIP-seq
MIRT1371806	hsa-miR-4755-3p	CLIP-seq
MIRT1371842	hsa-miR-4779	CLIP-seq
MIRT1371843	hsa-miR-4789-3p	CLIP-seq
MIRT1371844	hsa-miR-489	CLIP-seq
MIRT1371845	hsa-miR-558	CLIP-seq
MIRT1371846	hsa-miR-608	CLIP-seq
MIRT1371814	hsa-miR-610	CLIP-seq
MIRT1371847	hsa-miR-671-5p	CLIP-seq
MIRT2110335	hsa-miR-2467-3p	CLIP-seq
MIRT1371826	hsa-miR-3915	CLIP-seq
MIRT2110336	hsa-miR-4667-5p	CLIP-seq
MIRT2110337	hsa-miR-4680-5p	CLIP-seq
MIRT2110338	hsa-miR-4700-5p	CLIP-seq
MIRT1371840	hsa-miR-4731-5p	CLIP-seq
MIRT2333897	hsa-miR-185	CLIP-seq
MIRT2110335	hsa-miR-2467-3p	CLIP-seq
MIRT2333898	hsa-miR-4306	CLIP-seq
MIRT2333899	hsa-miR-4644	CLIP-seq
MIRT2333900	hsa-miR-103a	CLIP-seq
MIRT2333901	hsa-miR-107	CLIP-seq
MIRT2333902	hsa-miR-1179	CLIP-seq
MIRT2333903	hsa-miR-1296	CLIP-seq
MIRT2333904	hsa-miR-1321	CLIP-seq
MIRT2333897	hsa-miR-185	CLIP-seq
MIRT2110335	hsa-miR-2467-3p	CLIP-seq
MIRT2333905	hsa-miR-2909	CLIP-seq
MIRT2333906	hsa-miR-3150a-3p	CLIP-seq
MIRT2333907	hsa-miR-3175	CLIP-seq
MIRT2333908	hsa-miR-3691-3p	CLIP-seq
MIRT2333909	hsa-miR-3936	CLIP-seq
MIRT2333910	hsa-miR-4254	CLIP-seq
MIRT2333898	hsa-miR-4306	CLIP-seq
MIRT2333911	hsa-miR-4310	CLIP-seq
MIRT2333912	hsa-miR-4419a	CLIP-seq
MIRT2333913	hsa-miR-4436b-3p	CLIP-seq
MIRT2333914	hsa-miR-4510	CLIP-seq
MIRT2333899	hsa-miR-4644	CLIP-seq
MIRT2333915	hsa-miR-4739	CLIP-seq
MIRT2333916	hsa-miR-4756-5p	CLIP-seq
MIRT2333917	hsa-miR-4761-3p	CLIP-seq
MIRT2333918	hsa-miR-541	CLIP-seq
MIRT2333919	hsa-miR-654-5p	CLIP-seq
MIRT2333920	hsa-miR-939	CLIP-seq
MIRT2460009	hsa-miR-18a	CLIP-seq
MIRT2460010	hsa-miR-18b	CLIP-seq
MIRT2460011	hsa-miR-4639-5p	CLIP-seq
MIRT2460012	hsa-miR-4735-3p	CLIP-seq
MIRT2628109	hsa-miR-1228	CLIP-seq
MIRT2628110	hsa-miR-1247	CLIP-seq
MIRT2628111	hsa-miR-1302	CLIP-seq
MIRT2628112	hsa-miR-181a	CLIP-seq
MIRT2628113	hsa-miR-181b	CLIP-seq
MIRT2628114	hsa-miR-181c	CLIP-seq
MIRT2628115	hsa-miR-181d	CLIP-seq
MIRT2628116	hsa-miR-23a	CLIP-seq
MIRT2628117	hsa-miR-23b	CLIP-seq
MIRT2628118	hsa-miR-23c	CLIP-seq
MIRT2628119	hsa-miR-302a	CLIP-seq
MIRT2628120	hsa-miR-302b	CLIP-seq
MIRT2628121	hsa-miR-302c	CLIP-seq
MIRT2628122	hsa-miR-302d	CLIP-seq
MIRT2628123	hsa-miR-302e	CLIP-seq
MIRT1371820	hsa-miR-3120-3p	CLIP-seq
MIRT2628124	hsa-miR-3153	CLIP-seq
MIRT1371822	hsa-miR-3160-3p	CLIP-seq
MIRT2333907	hsa-miR-3175	CLIP-seq
MIRT2628125	hsa-miR-320e	CLIP-seq
MIRT1371823	hsa-miR-342-5p	CLIP-seq
MIRT2628126	hsa-miR-3689d	CLIP-seq
MIRT2333908	hsa-miR-3691-3p	CLIP-seq
MIRT2628127	hsa-miR-372	CLIP-seq
MIRT2628128	hsa-miR-373	CLIP-seq
MIRT1371826	hsa-miR-3915	CLIP-seq
MIRT1371827	hsa-miR-3928	CLIP-seq
MIRT2628129	hsa-miR-4257	CLIP-seq
MIRT2628130	hsa-miR-4262	CLIP-seq
MIRT2628131	hsa-miR-4287	CLIP-seq
MIRT2628132	hsa-miR-4297	CLIP-seq
MIRT2628133	hsa-miR-4298	CLIP-seq
MIRT2628134	hsa-miR-4433	CLIP-seq
MIRT2628135	hsa-miR-4434	CLIP-seq
MIRT1371831	hsa-miR-4459	CLIP-seq
MIRT1371833	hsa-miR-4487	CLIP-seq
MIRT2628136	hsa-miR-4516	CLIP-seq
MIRT2628137	hsa-miR-4517	CLIP-seq
MIRT1371835	hsa-miR-4651	CLIP-seq
MIRT1371837	hsa-miR-4663	CLIP-seq
MIRT1371838	hsa-miR-4664-5p	CLIP-seq
MIRT2110337	hsa-miR-4680-5p	CLIP-seq
MIRT2628138	hsa-miR-4685-3p	CLIP-seq
MIRT2628139	hsa-miR-4720-3p	CLIP-seq
MIRT1371839	hsa-miR-4722-5p	CLIP-seq
MIRT1371840	hsa-miR-4731-5p	CLIP-seq
MIRT1371842	hsa-miR-4779	CLIP-seq
MIRT2628140	hsa-miR-4802-5p	CLIP-seq
MIRT2628141	hsa-miR-4804-3p	CLIP-seq
MIRT2628142	hsa-miR-513a-5p	CLIP-seq
MIRT2628143	hsa-miR-519a	CLIP-seq
MIRT2628144	hsa-miR-519b-3p	CLIP-seq
MIRT2628145	hsa-miR-519c-3p	CLIP-seq
MIRT2628146	hsa-miR-520a-3p	CLIP-seq
MIRT2628147	hsa-miR-520b	CLIP-seq
MIRT2628148	hsa-miR-520c-3p	CLIP-seq
MIRT2628149	hsa-miR-520d-3p	CLIP-seq
MIRT2628150	hsa-miR-520e	CLIP-seq
MIRT2628151	hsa-miR-520f	CLIP-seq
MIRT2628152	hsa-miR-548a-3p	CLIP-seq
MIRT2628153	hsa-miR-548e	CLIP-seq
MIRT2628154	hsa-miR-548f	CLIP-seq
MIRT2628155	hsa-miR-550a	CLIP-seq
MIRT1371845	hsa-miR-558	CLIP-seq
MIRT1371846	hsa-miR-608	CLIP-seq
MIRT2628156	hsa-miR-647	CLIP-seq
MIRT2628157	hsa-miR-665	CLIP-seq
MIRT1371847	hsa-miR-671-5p	CLIP-seq
MIRT2628158	hsa-miR-942	CLIP-seq
MIRT2628109	hsa-miR-1228	CLIP-seq
MIRT2628110	hsa-miR-1247	CLIP-seq
MIRT2628112	hsa-miR-181a	CLIP-seq
MIRT2628113	hsa-miR-181b	CLIP-seq
MIRT2628114	hsa-miR-181c	CLIP-seq
MIRT2628115	hsa-miR-181d	CLIP-seq
MIRT2628116	hsa-miR-23a	CLIP-seq
MIRT2628117	hsa-miR-23b	CLIP-seq
MIRT2628118	hsa-miR-23c	CLIP-seq
MIRT2628119	hsa-miR-302a	CLIP-seq
MIRT2628120	hsa-miR-302b	CLIP-seq
MIRT2628121	hsa-miR-302c	CLIP-seq
MIRT2628122	hsa-miR-302d	CLIP-seq
MIRT2628123	hsa-miR-302e	CLIP-seq
MIRT1371820	hsa-miR-3120-3p	CLIP-seq
MIRT2628124	hsa-miR-3153	CLIP-seq
MIRT1371822	hsa-miR-3160-3p	CLIP-seq
MIRT2333907	hsa-miR-3175	CLIP-seq
MIRT1371823	hsa-miR-342-5p	CLIP-seq
MIRT2628126	hsa-miR-3689d	CLIP-seq
MIRT2333908	hsa-miR-3691-3p	CLIP-seq
MIRT2628127	hsa-miR-372	CLIP-seq
MIRT2628128	hsa-miR-373	CLIP-seq
MIRT1371826	hsa-miR-3915	CLIP-seq
MIRT1371827	hsa-miR-3928	CLIP-seq
MIRT2628129	hsa-miR-4257	CLIP-seq
MIRT2628130	hsa-miR-4262	CLIP-seq
MIRT2628132	hsa-miR-4297	CLIP-seq
MIRT1371831	hsa-miR-4459	CLIP-seq
MIRT1371833	hsa-miR-4487	CLIP-seq
MIRT2628137	hsa-miR-4517	CLIP-seq
MIRT1371835	hsa-miR-4651	CLIP-seq
MIRT1371837	hsa-miR-4663	CLIP-seq
MIRT1371838	hsa-miR-4664-5p	CLIP-seq
MIRT2628139	hsa-miR-4720-3p	CLIP-seq
MIRT1371839	hsa-miR-4722-5p	CLIP-seq
MIRT1371840	hsa-miR-4731-5p	CLIP-seq
MIRT1371842	hsa-miR-4779	CLIP-seq
MIRT2628140	hsa-miR-4802-5p	CLIP-seq
MIRT2628141	hsa-miR-4804-3p	CLIP-seq
MIRT2628142	hsa-miR-513a-5p	CLIP-seq
MIRT2628143	hsa-miR-519a	CLIP-seq
MIRT2628144	hsa-miR-519b-3p	CLIP-seq
MIRT2628145	hsa-miR-519c-3p	CLIP-seq
MIRT2628146	hsa-miR-520a-3p	CLIP-seq
MIRT2628147	hsa-miR-520b	CLIP-seq
MIRT2628148	hsa-miR-520c-3p	CLIP-seq
MIRT2628149	hsa-miR-520d-3p	CLIP-seq
MIRT2628150	hsa-miR-520e	CLIP-seq
MIRT2628151	hsa-miR-520f	CLIP-seq
MIRT2628152	hsa-miR-548a-3p	CLIP-seq
MIRT2628153	hsa-miR-548e	CLIP-seq
MIRT2628154	hsa-miR-548f	CLIP-seq
MIRT1371845	hsa-miR-558	CLIP-seq
MIRT1371846	hsa-miR-608	CLIP-seq
MIRT2628156	hsa-miR-647	CLIP-seq
MIRT1371847	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005515	Function	Protein binding	IPI	12192000, 12917342, 20130577, 21044950, 21653829, 28514442, 28533407, 32296183, 32814053, 33961781, 34591612, 35271311, 36950384
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006337	Process	Nucleosome disassembly	IEA
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IDA	10078207, 11018012, 11726552
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0007399	Process	Nervous system development	IEA
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 10078207, 11078522
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0042393	Function	Histone binding	IBA
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12192000
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11018012
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IBA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IBA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 601734
• HGNC: 11105
• e!Ensembl: ENSG00000139613

Protein

• UniProt ID: Q8TAQ2
• Protein name: SWI/SNF complex subunit SMARCC2 (BRG1-associated factor 170) (BAF170) (SWI/SNF complex 170 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2)
• Protein 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 chromati
• PDB: 6KAG, 6LTH, 6LTJ, 7VDV, 7Y8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16496	SWIRM-assoc_2	4 → 420	SWIRM-associated domain at the N-terminal	Family
  PF04433	SWIRM	427 → 512	SWIRM domain	Domain
  PF00249	Myb_DNA-binding	598 → 643	Myb-like DNA-binding domain	Domain
  PF16498	SWIRM-assoc_3	684 → 750	SWIRM-associated domain at the C-terminal	Family
  PF16495	SWIRM-assoc_1	863 → 946	SWIRM-associated region 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed.
• Sequence:

  MAVRKKDGGPNVKYYEAADTVTQFDNVRLWLGKNYKKYIQAEPPTNKSLSSLVVQLLQFQ
  EEVFGKHVSNAPLTKLPIKCFLDFKAGGSLCHILAAAYKFKSDQGWRRYDFQNPSRMDRN
  VEMFMTIEKSLVQNNCLSRPNIFLCPEIEPKLLGKLKDIIKRHQGTVTEDKNNASHVVYP
  VPGNLEEEEWVRPVMKRDKQVLLHWGYYPDSYDTWIPASEIEASVEDAPTPEKPRKVHAK
  WILDTDTFNEWMNEEDYEVNDDKNPVSRRKKISAKTLTDEVNSPDSDRRDKKGGNYKKRK
  RSPSPSPTPEAKKKNAKKGPSTPYTKSKRGHREEEQEDLTKDMDEPSPVPNVEEVTLPKT
  VNTKKDSESAPVKGGTMTDLDEQEDESMETTGKDEDENSTGNKGEQTKNPDLHEDNVTEQ
  THHIIIPSYAAWFDYNSVHAIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEY
  LTSTACRRNLAGDVCAIMRVHAFLEQWGLINYQVDAESRPTPMGPPPTSHFHVLADTPSG
  LVPLQPKTPQQTSASQQMLNFPDKGKEKPTDMQNFGLRTDMYTKKNVPSKSKAAASATRE
  WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLEDSEASLGPLA
  YQPIPFSQSGNPVMSTVAFLASVVDPRVASAAAKSALEEFSKMKEEVPTALVEAHVRKVE
  EAAKVTGKADPAFGLESSGIAGTTSDEPERIEESGNDEARVEGQATDEKKEPKEPREGGG
  AIEEEAKEKTSEAPKKDEEKGKEGDSEKESEKSDGDPIVDPEKEKEPKEGQEEVLKEVVE
  SEGERKTKVERDIGEGNLSTAAAAALAAAAVKAKHLAAVEERKIKSLVALLVETQMKKLE
  IKLRHFEELETIMDREREALEYQRQQLLADRQAFHMEQLKYAEMRARQQHFQQMHQQQQQ
  PPPALPPGSQPIPPTGAAGPPAVHGLAVAPASVVPAPAGSGAPPGSLGPSEQIGQAGSTA
  GPQQQQPAGAPQPGAVPPGVPPPGPHGPSPFPNQQTPPSMMPGAVPGSGHPGVAGNAPLG
  LPFGMPPPPPPPAPSIIPFGSLADSISINLPAPPNLHGHHHHLPFAPGTLPPPNLPVSMA
  NPLHPNLPATTTMPSSLPLGPGLGSAAAQSPAIVAAVQGNLLPSASPLPDPGTPLPPDPT
  APSPGTVTPVPPPQ

• Sequence length: 1214

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Coffin-Siris syndrome 8	Likely pathogenic; Pathogenic	rs1875450525, rs2135734683, rs1876739249, rs2540837488, rs2540924412, rs2540896084, rs2540900727, rs2540901234, rs2540924441, rs1565903353, rs1206884190, rs1565903367, rs1565917836, rs1565896447, rs1592324196, rs752001894, rs1555221275, rs1873193008	RCV001330809 RCV001814585 RCV001733878 RCV002302497 RCV002776552 RCV003123432 RCV003130914 RCV003148322 RCV003236656 RCV000761372 RCV000761373 RCV000761374 RCV000761375 RCV000761376 RCV000995877 RCV001198367 RCV001199061 RCV001253350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2135750656	RCV002274198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1877425899	RCV001374978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCC2-related BAFopathy	Pathogenic; Likely pathogenic	rs2135687866, rs2135733729, rs1488489883	RCV001533139 RCV001533138 RCV001533137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCC2-related disorder	Likely pathogenic	rs752001894	RCV003413981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCC2-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Juvenile	Juvenile arthritis	Pubtator	36969183	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30896821	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	30580808	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	ORPHANET_DG	30580808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30896821	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30580808	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34080022	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30580808		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30580808		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30580808	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35241061	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	30580808	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	30580808	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30580808		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30580808		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30580808	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Interstitial Cystitis	Interstitial Cystitis	BEFREE	12847144		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31308753		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37186134	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30580808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37348029	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33323379	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31308753		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	35241061	Associate	★☆☆☆☆ Found in Text Mining only