AiPD: Autoinhibited Protein Database

Q96GM5

Gene name	SMARCD1
Protein name	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
Names	60 kDa BRG-1/Brm-associated factor subunit A, BRG1-associated factor 60A, BAF60A, SWI/SNF complex 60 kDa subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6602
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-264 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-264 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

5 structures for Q96GM5

Entry ID	Method	Resolution	Chain	Position	Source
6LTH	EM	300 A	P	1-515	PDB
6LTJ	EM	370 A	P	1-515	PDB
7VDV	EM	340 A	Y	1-515	PDB
7Y8R	EM	440 A	P	1-515	PDB
AF-Q96GM5-F1	Predicted				AlphaFoldDB

240 variants for Q96GM5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA236743270 rs954124678 RCV001267454	50	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001003485 CA384792124 VAR_083801 rs1592289150	330	D>E	Coffin-Siris syndrome 11 CSS11; unknown pathological significance; does not affect the interaction with SMARCC1 and SMARCA4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs575681571 RCV001267564 CA236725461	334	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP gnomAD
rs762849068 RCV001266208 CA6561306	428	I>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1592294569 RCV001003486 CA384795236 VAR_083802	446	R>G	Coffin-Siris syndrome 11 CSS11 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1592295890 RCV001003487 CA384797045	486	W>*	Coffin-Siris syndrome 11 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083803	486	W>del	CSS11; does not affect the interaction with SMARCC1 and SMARCA4 [UniProt]	Yes	UniProt
CA384797193 RCV001003488 VAR_083804 rs1592295914	495	F>L	Coffin-Siris syndrome 11 CSS11; does not affect the interaction with SMARCC1 and SMARCA4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs372368908 CA384797402 RCV001003489 RCV001564444	503	R>*	Coffin-Siris syndrome 11 [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP
VAR_083805	503	R>del	CSS11 [UniProt]	Yes	UniProt
rs866500998 CA236743222	2	A>V		No	ClinGen gnomAD
rs1317917577 CA384785974	3	A>T		No	ClinGen gnomAD
CA384785986 rs1380592031	5	A>P		No	ClinGen TOPMed
CA6560986 rs752551605	5	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758191233 CA6560987	8	Q>R		No	ClinGen ExAC gnomAD
rs1403677677 CA384786018	10	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	11	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777484259 CA6560988	11	A>T		No	ClinGen ExAC gnomAD
CA384786036 rs1350043726	13	S>G		No	ClinGen TOPMed gnomAD
rs1294427991 CA384786045	14	G>D		No	ClinGen TOPMed gnomAD
rs1163410674 CA384786048	15	G>C		No	ClinGen TOPMed
rs1223401071 CA384786053	15	G>V		No	ClinGen gnomAD
CA6560989 rs746992940	17	G>R		No	ClinGen ExAC gnomAD
CA384786070 rs1565737172	18	A>V		No	ClinGen Ensembl
TCGA novel	19	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384786095 rs1249759620	23	G>S		No	ClinGen gnomAD
rs1465716502 CA384786113	26	A>T		No	ClinGen TOPMed
CA384786126 rs1250350590	28	L>V		No	ClinGen TOPMed
rs1484269487 CA384786142	30	P>L		No	ClinGen gnomAD
rs749309509 CA6560992	30	P>S		No	ClinGen ExAC
rs1419469844 CA384786146	31	G>D		No	ClinGen gnomAD
rs1592285392 CA384786166	34	P>L		No	ClinGen Ensembl
CA236743257 rs71464994	35	G>E		No	ClinGen Ensembl
rs1161194005 CA384786176	36	P>L		No	ClinGen TOPMed gnomAD
rs774710402 CA6560994	36	P>S		No	ClinGen ExAC gnomAD
CA236743258 rs1013610690	37	P>S		No	ClinGen TOPMed
CA384786184 rs1230183672	38	V>L		No	ClinGen TOPMed
rs1484625902 CA384786192	39	R>L		No	ClinGen gnomAD
rs1357450761 CA384786211	42	P>L		No	ClinGen TOPMed
CA384786216 rs1195605857	43	A>T		No	ClinGen gnomAD
rs976962586 CA236743261	44	P>L		No	ClinGen Ensembl
CA384786228 rs1419937026	45	G>D		No	ClinGen gnomAD
rs548902421 CA6560995	48	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384786250 rs1247702230	49	Y>H		No	ClinGen Ensembl
CA236743272 rs985342530	53	M>I		No	ClinGen TOPMed
CA384786288 rs1378914960	55	G>R		No	ClinGen gnomAD
CA384786298 rs1344323730	56	A>G		No	ClinGen TOPMed
rs1426158199 CA384786311	58	Y>F		No	ClinGen TOPMed
rs1434810348 CA384786314	59	P>S		No	ClinGen gnomAD
rs1555186210 CA384786342	61	P>Q		No	ClinGen Ensembl
rs1269022704 CA384786348	62	G>D		No	ClinGen gnomAD
CA6561009 rs759423387	63	M>I		No	ClinGen ExAC TOPMed gnomAD
CA6561008 rs751284712	63	M>R		No	ClinGen ExAC gnomAD
rs993328878 CA236743623	67	S>I		No	ClinGen Ensembl
CA236743628 rs764685953	68	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149183221 CA6561010	71	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749452857 CA6561011	72	Q>E		No	ClinGen ExAC gnomAD
rs201417018 CA236743638	72	Q>H		No	ClinGen 1000Genomes
CA384786421 rs1346247648	74	P>A		No	ClinGen TOPMed gnomAD
CA384786427 rs1565737619	75	S>P		No	ClinGen Ensembl
CA6561012 rs755116252	76	M>V		No	ClinGen ExAC gnomAD
rs1438963550 CA384786443	77	G>E		No	ClinGen gnomAD
CA384786450 rs1184153838	78	P>R		No	ClinGen TOPMed gnomAD
rs908439045 CA384786447	78	P>S		No	ClinGen TOPMed
CA236743659 rs908439045	78	P>T		No	ClinGen TOPMed
rs200449405 CA6561013	81	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6561016 rs372851900	84	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6561015 rs372851900	84	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA384786485 rs372851900	84	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6561018 rs771531874	85	P>S		No	ClinGen ExAC gnomAD
CA6561019 rs777005085	87	V>L		No	ClinGen ExAC gnomAD
rs759976916 CA6561020	88	R>*		No	ClinGen ExAC gnomAD
rs762563780 CA236743677	89	P>L		No	ClinGen Ensembl
CA6561021 rs764745969	90	G>V		No	ClinGen ExAC gnomAD
rs936279527 CA236743697	99	S>F		No	ClinGen Ensembl
TCGA novel	101	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592286215 CA384786599	102	R>S		No	ClinGen Ensembl
CA384786596 rs1281446767	102	R>T		No	ClinGen TOPMed
CA6561027 rs767276698	103	P>L		No	ClinGen ExAC TOPMed gnomAD
CA384786634 rs1462225107	108	I>V		No	ClinGen gnomAD
CA6561030 rs139120093	112	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6561029 rs201326977	112	Q>R		No	ClinGen ExAC gnomAD
CA384786686 rs1444464777	115	A>S		No	ClinGen gnomAD
rs376164103 CA6561031	115	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA384786707 rs1565737755	118	N>S		No	ClinGen Ensembl
rs1565737763 CA384786727	121	H>R		No	ClinGen Ensembl
CA6561035 rs747185206	122	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	122	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6561063 rs773865025	123	A>T		No	ClinGen ExAC gnomAD
rs761404946 CA6561064	123	A>V		No	ClinGen ExAC gnomAD
CA384786775 rs1376019458	126	K>R		No	ClinGen gnomAD
CA6561066 rs773197299	131	K>N		No	ClinGen ExAC gnomAD
rs1446694595 CA384786814	131	K>R		No	ClinGen TOPMed
CA6561068 rs143055223	135	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA384786845 rs1565737974	136	R>T		No	ClinGen Ensembl
CA384786862 rs1369599783	137	I>V		No	ClinGen gnomAD
CA6561082 rs559383300	138	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6561083 rs147034181	138	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6561084 rs147034181	138	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	139	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236743970 rs148076461	145	Q>P		No	ClinGen ESP
CA6561087 rs141789236	146	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253766969 CA384786984	155	R>K		No	ClinGen gnomAD
CA384787040 rs1185283310	163	R>G		No	ClinGen TOPMed
rs1453885968 CA384787065	167	D>H		No	ClinGen gnomAD
CA384787099 rs1196764647	171	A>D		No	ClinGen gnomAD
CA236743982 rs200814150	174	R>C		No	ClinGen Ensembl
TCGA novel	175	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1255216266 CA384787132	176	I>T		No	ClinGen TOPMed
TCGA novel	177	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762741274 CA6561108	189	T>S		No	ClinGen ExAC TOPMed gnomAD
rs773237567 CA6561111 CA6561110	190	F>L		No	ClinGen ExAC TOPMed gnomAD
rs767607029 CA6561109	190	F>S		No	ClinGen ExAC TOPMed gnomAD
CA384787304 rs1235560708	200	G>R		No	ClinGen gnomAD
rs774922403 CA236744315	203	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	204	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242838568 CA384787335	205	A>P		No	ClinGen gnomAD
CA384787404 rs1212964901	215	L>P		No	ClinGen TOPMed gnomAD
CA384787406 rs1264073352	216	L>M		No	ClinGen TOPMed
CA6561119 rs746493397	216	L>P		No	ClinGen ExAC
CA384787580 rs1318804285	220	A>V		No	ClinGen gnomAD
TCGA novel	226	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940298273 CA236744828	230	K>R		No	ClinGen Ensembl
TCGA novel	232	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384787667 rs1365459236	232	K>N		No	ClinGen gnomAD
rs952333987 CA236744835	238	K>E		No	ClinGen TOPMed
CA6561154 rs752129292	239	S>T		No	ClinGen ExAC TOPMed gnomAD
CA384787727 rs1380178581	241	V>G		No	ClinGen TOPMed
rs762365851 CA6561155	241	V>L		No	ClinGen ExAC gnomAD
rs749871443 CA6561157	242	I>F		No	ClinGen ExAC gnomAD
CA384787771 rs755841124	248	L>M		No	ClinGen ExAC gnomAD
CA384787784 rs1349417787	250	G>R		No	ClinGen Ensembl
TCGA novel	251	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753419051 CA6561160	254	H>Y		No	ClinGen ExAC gnomAD
CA6561180 rs765056152	262	A>D		No	ClinGen ExAC TOPMed gnomAD
rs370452075 CA6561179	262	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA236745240 rs765056152	262	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	268	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6561184 rs746898820	275	P>L		No	ClinGen ExAC gnomAD
rs200921207 CA6561187	278	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6561189 rs774908560	281	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768972786 CA6561188	281	R>W		No	ClinGen ExAC gnomAD
rs1466269749 CA384788044	287	M>I		No	ClinGen TOPMed
CA384788051 rs1476501644	289	D>N		No	ClinGen gnomAD
CA384788065 rs1189341542	290	Y>*		No	ClinGen gnomAD
CA384791279 rs1378153515	292	P>R		No	ClinGen gnomAD
rs577197555 CA236725376	293	P>H		No	ClinGen 1000Genomes
rs377735931 CA236725358	293	P>S		No	ClinGen ESP TOPMed gnomAD
rs778155149 CA6561211	294	Q>H		No	ClinGen ExAC gnomAD
CA6561212 rs747506587	298	D>A		No	ClinGen ExAC gnomAD
rs771405936 CA6561213	298	D>E		No	ClinGen ExAC gnomAD
CA384791369 rs1400988399	299	P>H		No	ClinGen TOPMed gnomAD
rs1400988399 CA384791373	299	P>L		No	ClinGen TOPMed gnomAD
rs1319486448 CA384791380	300	R>C		No	ClinGen gnomAD
rs1319486448 CA384791377	300	R>S		No	ClinGen gnomAD
rs1442501952 CA384791429	303	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759040978 CA6561215	306	G>S		No	ClinGen ExAC gnomAD
rs1224165549 CA384791511	307	I>L		No	ClinGen gnomAD
rs1592289119 CA384791602	310	Q>E		No	ClinGen Ensembl
rs1229326795 CA384791651	312	R>C		No	ClinGen gnomAD
CA6561222 rs767552392	321	Q>H		No	ClinGen ExAC gnomAD
CA384791925 rs1268104437	322	Y>H		No	ClinGen gnomAD
rs1451030258 CA384792056	326	H>R		No	ClinGen gnomAD
CA6561225 rs778999277	333	E>K		No	ClinGen ExAC gnomAD
rs1158090723 CA384792216	336	F>L		No	ClinGen gnomAD
rs1419433648 CA384792225	337	V>D		No	ClinGen TOPMed
CA6561228 rs778044064	338	I>V		No	ClinGen ExAC gnomAD
CA384792258 rs1163404131	339	C>F		No	ClinGen gnomAD
CA6561229 rs747385757	341	K>R		No	ClinGen ExAC gnomAD
CA6561231 rs202011906	343	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235074031 CA384792343	344	Q>R		No	ClinGen gnomAD
CA384792441 rs1313708909	346	I>M		No	ClinGen TOPMed gnomAD
CA236725602 rs1140541	349	S>T		No	ClinGen Ensembl
CA384792527 rs1253128772	351	R>C		No	ClinGen TOPMed gnomAD
CA6561250 rs746406610	351	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384792546 rs1329250524	352	M>T		No	ClinGen gnomAD
TCGA novel	356	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257479769 CA384792638	358	P>S		No	ClinGen TOPMed
CA6561252 rs779479858	359	Q>P		No	ClinGen ExAC gnomAD
CA6561254 rs150612896	360	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6561253 rs141728974	360	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs202030504 CA6561256	362	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA6561257 rs772020844	363	A>V		No	ClinGen ExAC gnomAD
rs773107459 CA6561258	370	P>L		No	ClinGen ExAC gnomAD
rs756882231 CA236725637	371	I>T		No	ClinGen gnomAD
CA384792853 rs1565739863	372	I>M		No	ClinGen Ensembl
rs759341144 CA6561280	379	V>I		No	ClinGen ExAC gnomAD
rs768814175 CA6561281	381	P>L		No	ClinGen ExAC gnomAD
TCGA novel	387	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268404251 CA384793974	392	I>V		No	ClinGen gnomAD
rs762072154 CA6561283	395	E>G		No	ClinGen ExAC gnomAD
CA6561284 rs767713363	396	V>M		No	ClinGen ExAC gnomAD
rs61751611 CA236728433	399	T>I		No	ClinGen Ensembl
rs1489788433 CA384794038	401	K>R		No	ClinGen gnomAD
CA384794045 rs1192299426	402	T>N		No	ClinGen gnomAD
TCGA novel	404	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6561285 rs750857733	406	S>C		No	ClinGen ExAC gnomAD
CA384794077 rs750857733	406	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1198501700 CA384794106	411	T>I		No	ClinGen gnomAD
TCGA novel	416	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384794153 rs1161770206	418	A>T		No	ClinGen gnomAD
TCGA novel	421	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766597549 CA6561287	422	N>H		No	ClinGen ExAC gnomAD
rs201193664	424	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs757979933 CA236730654	425	H>R		No	ClinGen Ensembl
CA6561304 rs376180827	425	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6561305 rs754127724	427	T>A		No	ClinGen ExAC gnomAD
TCGA novel	429	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765831618 CA6561307	430	T>A		No	ClinGen ExAC gnomAD
rs753187860 CA6561308	434	L>M		No	ClinGen ExAC TOPMed gnomAD
rs757995403 CA6561309	434	L>P		No	ClinGen ExAC gnomAD
CA384795098 rs1473235153	438	R>G		No	ClinGen TOPMed gnomAD
CA6561310 rs777367839	438	R>Q		No	ClinGen ExAC gnomAD
CA384795100 rs1473235153	438	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	443	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384795194 rs1411711630	443	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384795269 rs527458559	447	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA384795276 rs1592294583	448	P>S		No	ClinGen Ensembl
CA6561312 rs756829509	454	D>V		No	ClinGen ExAC gnomAD
TCGA novel	454	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6561313 rs781091669	461	R>S		No	ClinGen ExAC gnomAD
TCGA novel	462	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6561332 rs756994091	465	T>R		No	ClinGen ExAC gnomAD
rs1346166266 CA384796750	467	T>S		No	ClinGen gnomAD
rs1218967833 CA384796757	468	D>N		No	ClinGen gnomAD
rs1209486937 CA384796787	469	V>A		No	ClinGen gnomAD
rs767072864 CA6561334	469	V>M		No	ClinGen ExAC gnomAD
CA384796850 rs1247489056	474	E>K		No	ClinGen TOPMed gnomAD
rs1200935521 CA384796914	477	R>H		No	ClinGen gnomAD
CA384796923 rs1247141490	478	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6561335 rs750026102	478	R>Q		No	ClinGen ExAC gnomAD
rs1173923000 CA384796933	479	A>S		No	ClinGen gnomAD
rs1413778804 CA384796939	479	A>V		No	ClinGen gnomAD
CA6561336 rs541161761	487	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1592295899 CA384797093	488	Q>R		No	ClinGen Ensembl
CA6561338 rs557865219	497	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450076419 CA384797578	513	R>Q		No	ClinGen TOPMed
CA384797594 rs1289355349	514	N>S		No	ClinGen TOPMed
CA384797614 rs1215265267	515	T>I		No	ClinGen TOPMed
rs780624422 CA6561364	516	T>Q		No	ClinGen ExAC gnomAD

1 associated diseases with Q96GM5

[MIM: 618779]: Coffin-Siris syndrome 11 (CSS11)

A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. {ECO:0000269|PubMed:30879640}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. {ECO:0000269|PubMed:30879640}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q96GM5

Type	Name	Position	InterPro Accession
domain	SWIB/MDM2 domain	290 - 367	IPR003121
domain	SWIB domain	291 - 370	IPR019835
domain	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 1, SWIB domain	294 - 370	IPR038041

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
brahma complex	A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the Drosophila brm (brahma) or mammalian SMARCA2/BAF190B/BRM gene, or an ortholog thereof.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
GBAF complex	A SWI/SNF subcomplex that incorporates two mutually exclusive paralogs, GLTSCR1 (glioma tumor suppressor candidate region gene 1) or GLTSCR1L (GLTSCR1-like), BRD9 (bromodomain-containing 9) and the BAF subunits BAF155, BAF60, SS18, BAF53a, and BRG1/BRM.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
nBAF complex	A SWI/SNF-type complex that is found in post-mitotic neurons, and in human contains actin and proteins encoded by the 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 genes. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth.
npBAF complex	A SWI/SNF-type complex that is found in neural stem or progenitor cells, and in human contains actin and proteins encoded by the 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 genes. The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
RSC-type complex	A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining.
SWI/SNF complex	A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof.

5 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription coregulator activity	A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

17 GO annotations of biological process

Name	Definition
cellular response to fatty acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fatty acid stimulus.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
epigenetic maintenance of chromatin in transcription-competent conformation	An epigenetic process that capacitates gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA.
negative regulation of cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
nucleosome disassembly	The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of double-strand break repair	Any process that activates or increases the frequency, rate or extent of double-strand break repair.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
positive regulation of stem cell population maintenance	Any process that activates or increases the frequency, rate or extent of stem cell population maintenance.
positive regulation of T cell differentiation	Any process that activates or increases the frequency, rate or extent of T cell differentiation.
regulation of G0 to G1 transition	A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase.
regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
regulation of mitotic metaphase/anaphase transition	Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
regulation of nucleotide-excision repair	Any process that modulates the frequency, rate or extent of nucleotide-excision repair.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
E1BJD1	SMARCD2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2	Bos taurus (Bovine)	PR
Q2TBN1	SMARCD1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1	Bos taurus (Bovine)	PR
Q9VYG2	Bap60	Brahma-associated protein of 60 kDa	Drosophila melanogaster (Fruit fly)	PR
Q6STE5	SMARCD3	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3	Homo sapiens (Human)	PR
Q92925	SMARCD2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2	Homo sapiens (Human)	PR
Q6P9Z1	Smarcd3	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3	Mus musculus (Mouse)	PR
Q99JR8	Smarcd2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2	Mus musculus (Mouse)	PR
Q61466	Smarcd1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1	Mus musculus (Mouse)	PR
O54772	Smarcd2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAARAGFQSV	APSGGAGASG	GAGAAAALGP	GGTPGPPVRM	GPAPGQGLYR	SPMPGAAYPR
70	80	90	100	110	120
PGMLPGSRMT	PQGPSMGPPG	YGGNPSVRPG	LAQSGMDQSR	KRPAPQQIQQ	VQQQAVQNRN
130	140	150	160	170	180
HNAKKKKMAD	KILPQRIREL	VPESQAYMDL	LAFERKLDQT	IMRKRLDIQE	ALKRPIKQKR
190	200	210	220	230	240
KLRIFISNTF	NPAKSDAEDG	EGTVASWELR	VEGRLLEDSA	LSKYDATKQK	RKFSSFFKSL
250	260	270	280	290	300
VIELDKDLYG	PDNHLVEWHR	TATTQETDGF	QVKRPGDVNV	RCTVLLMLDY	QPPQFKLDPR
310	320	330	340	350	360
LARLLGIHTQ	TRPVIIQALW	QYIKTHKLQD	PHEREFVICD	KYLQQIFESQ	RMKFSEIPQR
370	380	390	400	410	420
LHALLMPPEP	IIINHVISVD	PNDQKKTACY	DIDVEVDDTL	KTQMNSFLLS	TASQQEIATL
430	440	450	460	470	480
DNKIHETIET	INQLKTQREF	MLSFARDPQG	FINDWLQSQC	RDLKTMTDVV	GNPEEERRAE
490	500	510
FYFQPWAQEA	VCRYFYSKVQ	QRRQELEQAL	GIRNT