AiPD: Autoinhibited Protein Database

Q6IQ16

Gene name	SPOPL
Protein name	Speckle-type POZ protein-like
Names	HIB homolog 2, Roadkill homolog 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:339745
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

346-392 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

346-392 (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

1 structures for Q6IQ16

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6IQ16-F1	Predicted				AlphaFoldDB

287 variants for Q6IQ16

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1891884 rs755613583	3	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752261564 CA1891883	3	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368194063 CA1891886	4	E>D		No	ClinGen ESP ExAC gnomAD
CA348511621 rs1164272983	5	P>S		No	ClinGen gnomAD
CA1891887 rs757597289	6	T>P		No	ClinGen ExAC gnomAD
TCGA novel	7	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348511661 rs1224054892	8	P>R		No	ClinGen TOPMed
CA348511694 rs1421820696	11	G>E		No	ClinGen gnomAD
rs866893531 CA57073808	12	D>G		No	ClinGen TOPMed
rs372320266 CA348511725	13	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372320266 CA1891888	13	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs893081318 CA57073809	14	S>A		No	ClinGen TOPMed
rs143323501 CA57073811	15	T>A		No	ClinGen TOPMed gnomAD
rs143323501 CA348511747	15	T>P		No	ClinGen TOPMed gnomAD
CA1891889 rs746378649	17	P>R		No	ClinGen ExAC gnomAD
CA1891890 rs772767550	18	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1891891 rs772767550	18	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1891892 rs747126808	21	S>R		No	ClinGen ExAC gnomAD
CA1891893 rs375395432	21	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310052708 CA348511852	22	W>R		No	ClinGen gnomAD
rs1240500696 CA348511927	26	Q>P		No	ClinGen TOPMed gnomAD
rs1210091118 CA348512038	29	V>A		No	ClinGen gnomAD
rs1313279785 CA348512034	29	V>I		No	ClinGen gnomAD
CA1891913 rs141956233	31	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs770111475 CA1891914	34	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759363741 CA1891916	37	T>S		No	ClinGen ExAC gnomAD
CA348512170 rs1220160722	37	T>S		No	ClinGen TOPMed
CA57073832 rs369163509	42	S>G		No	ClinGen ESP TOPMed gnomAD
TCGA novel	44	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425684590 CA348512298	44	C>Y		No	ClinGen gnomAD
CA348512313 rs1413823185	45	R>*		No	ClinGen gnomAD
VAR_053719 rs36099753 CA1891917	45	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1401796382 CA348512371	48	M>T		No	ClinGen gnomAD
CA1891918 rs371544294	49	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465699731 CA348512383	49	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	52	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1891921 rs753450448	54	S>N		No	ClinGen ExAC gnomAD
CA348512493 rs1219112760	56	T>A		No	ClinGen gnomAD
rs1281952912 CA348512510	57	F>S		No	ClinGen gnomAD
CA1891943 rs776404478	67	W>C		No	ClinGen ExAC gnomAD
rs369405867 CA348513044	70	R>S		No	ClinGen ESP gnomAD
CA57073872 rs146117744 COSM109899	73	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs141678968 CA57073871 COSM108729	73	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs761436858 CA1891944	74	K>E		No	ClinGen ExAC TOPMed gnomAD
CA57073873 rs868756817	79	E>G		No	ClinGen Ensembl
CA348513134 rs1163418804	83	Y>C		No	ClinGen gnomAD
rs766861409 CA1891948	88	L>V		No	ClinGen ExAC TOPMed gnomAD
CA348513175 rs1450659245	89	L>H		No	ClinGen gnomAD
rs752026956 CA1891949	91	V>L		No	ClinGen ExAC gnomAD
CA348513209 rs761188719	94	P>H		No	ClinGen TOPMed gnomAD
CA57073874 rs761188719	94	P>L		No	ClinGen TOPMed gnomAD
CA1891951 rs755291990	99	R>G		No	ClinGen ExAC gnomAD
rs753118802 CA348513242	99	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1891952 rs753118802	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA348513248 rs756236631	100	A>G		No	ClinGen ExAC gnomAD
rs1324714180 CA348513246	100	A>S		No	ClinGen TOPMed gnomAD
rs1324714180 CA348513244	100	A>T		No	ClinGen TOPMed gnomAD
CA1891953 rs756236631	100	A>V		No	ClinGen ExAC gnomAD
CA348513259 rs1284921505	102	F>L		No	ClinGen gnomAD
CA1891954 rs777787109	102	F>L		No	ClinGen ExAC TOPMed gnomAD
rs749513872 CA348513268	103	K>I		No	ClinGen ExAC gnomAD
CA1891955 rs749513872	103	K>T		No	ClinGen ExAC gnomAD
rs1316154941 CA348513275	104	F>S		No	ClinGen TOPMed
CA57073876 rs373542881	107	L>P		No	ClinGen ESP TOPMed
CA1891956 rs764389073	109	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1891957 rs779106536	110	K>E		No	ClinGen ExAC gnomAD
COSM1399664 CA348513311 rs1335825764	110	K>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746850288 CA1891958	111	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348513360 rs1425291095	114	T>A		No	ClinGen TOPMed
TCGA novel	116	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764574491 CA1891973	119	S>T		No	ClinGen ExAC gnomAD
CA348513642 rs1284677210	120	Q>*		No	ClinGen TOPMed
CA348513691 rs1347019707	122	A>E		No	ClinGen TOPMed gnomAD
CA348513693 rs1347019707	122	A>G		No	ClinGen TOPMed gnomAD
rs1180074281 CA348513725 COSM1006961	124	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs757299951 CA348513733	124	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757299951 CA1891975	124	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	129	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1891977 rs143184403	130	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	135	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348513952 rs1405376354	136	F>L		No	ClinGen gnomAD
CA1891978 rs754833900	137	I>F		No	ClinGen ExAC gnomAD
CA1891979 rs754833900	137	I>V		No	ClinGen ExAC gnomAD
CA348513998 rs748131330	139	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1891982 rs773277246	141	F>L		No	ClinGen ExAC gnomAD
CA1891981 rs769908367	141	F>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	141	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1891984 rs556504502	142	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1891985 rs576448391	143	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199610841 CA1891986	144	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA348514085 rs1347379700	144	D>N		No	ClinGen TOPMed
TCGA novel	145	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369085753 CA1891988	146	A>T		No	ClinGen ESP ExAC gnomAD
rs1199991982 CA348514160	147	N>S		No	ClinGen gnomAD
rs1258204545 CA348514351	154	K>N		No	ClinGen gnomAD
CA1891989 rs761099633	155	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1891990 rs764629683	156	T>S		No	ClinGen ExAC gnomAD
rs754325060 CA1891991	158	F>S		No	ClinGen ExAC gnomAD
rs1435299212 CA348514498	159	C>S		No	ClinGen gnomAD
CA348516534 rs371193015	161	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371193015 CA1892026	161	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417204721 CA348516555	162	S>N		No	ClinGen TOPMed gnomAD
CA1892028 rs746625053	164	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1892027 rs746625053	164	V>L		No	ClinGen ExAC TOPMed gnomAD
CA348516647 rs762154275	170	I>L		No	ClinGen ExAC gnomAD
rs200334144 CA1892031	170	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1892030 rs762154275	170	I>V		No	ClinGen ExAC gnomAD
CA348516660 rs1447143789	171	S>P		No	ClinGen gnomAD
rs762991418 CA1892033	173	H>R		No	ClinGen ExAC gnomAD
rs969830690 CA57074752	173	H>Y		No	ClinGen gnomAD
CA1892034 rs374740824	174	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774464011 CA1892035	175	N>D		No	ClinGen ExAC gnomAD
rs368798326 CA1892036	175	N>K		No	ClinGen ESP ExAC gnomAD
CA348516709 rs1276988225	175	N>S		No	ClinGen TOPMed
rs763990686 CA1892037	176	T>I		No	ClinGen ExAC gnomAD
TCGA novel	178	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1892039 rs753742213	182	P>L		No	ClinGen ExAC gnomAD
rs765807973 CA1892038	183	E>A		No	ClinGen ExAC gnomAD
rs371493580 CA1892041	183	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371493580 CA1892040	183	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757881657 CA1892043	185	R>C		No	ClinGen ExAC gnomAD
rs779550767 CA1892044	185	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373798557 CA57074753	187	A>S		No	ClinGen ESP
CA348517041 rs1173621059	192	N>K		No	ClinGen gnomAD
CA348517035 rs1356390058	192	N>S		No	ClinGen TOPMed gnomAD
CA1892046 rs201242515	194	W>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1892045 rs746680644	194	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1158391122 CA348517155	197	T>A		No	ClinGen TOPMed
CA1892047 rs780820354	202	C>F		No	ClinGen ExAC gnomAD
CA348517275 rs1417252612	202	C>R		No	ClinGen TOPMed
rs1354250309 CA348517309	203	S>N		No	ClinGen gnomAD
CA348517299 rs1427160414	203	S>R		No	ClinGen TOPMed
TCGA novel	205	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773611033 CA1892050	206	V>A		No	ClinGen ExAC
rs558526111 CA1892049	206	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs770920106 CA1892052	207	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1892053 rs774514023	209	Q>*		No	ClinGen ExAC gnomAD
rs1320134188 CA348517474	209	Q>R		No	ClinGen gnomAD
CA57074754 rs41269829	213	A>D		No	ClinGen Ensembl
rs767916358 CA1892055	213	A>T		No	ClinGen ExAC gnomAD
CA1892056 rs775834912	214	H>N		No	ClinGen ExAC gnomAD
rs1488392963 CA348517586	215	K>E		No	ClinGen TOPMed
CA1892058 rs540849425	216	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA348517610 rs1269411139	216	S>P		No	ClinGen gnomAD
TCGA novel	217	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348517653 rs1259634917	218	L>F		No	ClinGen TOPMed
TCGA novel	218	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200020302 CA1892060	219	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348517694 rs1558879814	219	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760884383 CA1892078	220	A>G		No	ClinGen ExAC gnomAD
CA57074757 rs988657502	221	R>Q		No	ClinGen TOPMed
rs769493606 CA1892079	226	N>S		No	ClinGen ExAC gnomAD
COSM1006963 rs1386200060 CA348517922	227	A>T	kidney endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1892081 rs562540565	227	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348517940 rs1363003578	228	M>V		No	ClinGen gnomAD
CA348518030 rs1317702309	230	E>G		No	ClinGen gnomAD
rs751473677 CA1892083	230	E>Q		No	ClinGen ExAC gnomAD
rs147776374 CA1892084	231	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348518063 rs1474949593	231	H>Y		No	ClinGen gnomAD
CA57074758 rs913029400	232	E>G		No	ClinGen gnomAD
rs1243488846 CA348518153	233	M>I		No	ClinGen gnomAD
CA348518125 rs1381683390	233	M>V		No	ClinGen gnomAD
rs1311254083 CA348518165	234	E>K		No	ClinGen gnomAD
TCGA novel	235	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351282237 CA348518204	235	E>K		No	ClinGen gnomAD
rs145753116 CA1892085	236	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348518268 rs1281474880	236	S>R		No	ClinGen gnomAD
CA348518344 rs1184329199	238	K>T		No	ClinGen TOPMed
CA348518673 rs1405523597	239	N>K		No	ClinGen gnomAD
rs564888975 CA1892118	240	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs759036296 CA1892120	240	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759036296 CA1892119 COSM1006965	240	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1251548125 CA348518695	241	V>A		No	ClinGen gnomAD
TCGA novel	242	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1892122 rs768598451	242	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1892123 rs781497682	246	L>S		No	ClinGen ExAC gnomAD
CA348518782 rs1248914542	246	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	252	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1573908147 CA348518866	252	K>E		No	ClinGen Ensembl
rs774071344 CA1892126	254	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA57074923 rs899764272	256	R>S		No	ClinGen Ensembl
rs1165906631 CA348519043	264	P>R		No	ClinGen gnomAD
CA1892129 rs775259509	265	N>K		No	ClinGen ExAC gnomAD
CA1892130 rs760280026	266	L>F		No	ClinGen ExAC gnomAD
CA57074924 rs1041856585	268	K>R		No	ClinGen TOPMed gnomAD
CA1892131 rs763474280	269	M>I		No	ClinGen ExAC gnomAD
CA348519110 rs1383404123	269	M>R		No	ClinGen gnomAD
rs1325459120 CA348519121	270	A>T		No	ClinGen gnomAD
CA348519463 rs1450279061	272	N>I		No	ClinGen gnomAD
rs1185378136 CA348519510	276	A>S		No	ClinGen TOPMed
rs1249928881 CA348519529	277	A>V		No	ClinGen gnomAD
rs1362082110 CA348519537	278	D>G		No	ClinGen TOPMed gnomAD
rs1362082110 CA348519538	278	D>V		No	ClinGen TOPMed gnomAD
rs771829486 CA1892146	281	A>V		No	ClinGen ExAC TOPMed gnomAD
rs998348051 CA57075368	284	R>L		No	ClinGen Ensembl
CA348519770 rs1445542070	284	R>W		No	ClinGen gnomAD
CA348519791 rs1573911172	287	V>G		No	ClinGen Ensembl
CA348519795 rs1383208884	288	M>K		No	ClinGen gnomAD
CA348519809 rs1159786852	290	E>K		No	ClinGen gnomAD
CA1892149 rs768225882	291	E>A		No	ClinGen ExAC gnomAD
TCGA novel	293	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761407845 CA1892151	295	S>N		No	ClinGen ExAC gnomAD
CA1892152 rs765026754	296	N>D		No	ClinGen ExAC gnomAD
CA348519857 rs145663394	296	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225931708 CA348519870	298	S>L		No	ClinGen gnomAD
CA348519877 rs1558882330	300	E>*		No	ClinGen Ensembl
rs766609901 CA1892155	302	V>A		No	ClinGen ExAC gnomAD
CA348519913 rs1226631199	305	T>A		No	ClinGen gnomAD
CA348519912 rs1226631199	305	T>P		No	ClinGen gnomAD
rs1199547450 CA348519937	306	L>R		No	ClinGen TOPMed
CA1892156 rs752109572	309	A>G		No	ClinGen ExAC gnomAD
TCGA novel	310	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1892158 rs540372520	311	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755377799 CA1892157	311	L>V		No	ClinGen ExAC gnomAD
CA57075369 rs941042712	311	L>W		No	ClinGen TOPMed
rs985437116 CA57075370	313	S>G		No	ClinGen gnomAD
CA1892159 rs752840033	314	A>E		No	ClinGen ExAC
rs1357058810 CA348520030	314	A>T		No	ClinGen TOPMed
CA1892161 rs778016867	316	Q>K		No	ClinGen ExAC
CA348520060 rs1417315762	316	Q>L		No	ClinGen gnomAD
rs1417315762 CA348520058	316	Q>P		No	ClinGen gnomAD
rs746806627 CA1892165	319	A>E		No	ClinGen ExAC gnomAD
CA1892164 rs758219097	319	A>P		No	ClinGen ExAC gnomAD
rs758219097 CA1892163	319	A>T		No	ClinGen ExAC gnomAD
CA1892167 rs77602051	320	Q>K		No	ClinGen ExAC gnomAD
rs747713250 CA1892168	322	I>M		No	ClinGen ExAC
CA348520167 rs1337353202	323	D>E		No	ClinGen TOPMed
TCGA novel	323	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348520188 rs144951973	325	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA348520196 rs1445663292	325	I>T		No	ClinGen TOPMed
rs144951973 CA1892170	325	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA57075375 rs919155469	328	C>Y		No	ClinGen Ensembl
CA348520378 rs1354343688	330	V>A		No	ClinGen gnomAD
CA57075376 rs1051251865	330	V>I		No	ClinGen TOPMed
CA348520385 rs1428341584	331	L>F		No	ClinGen gnomAD
CA348520395 rs1305495096	332	R>G		No	ClinGen gnomAD
CA1892184 rs779192325	332	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1892183 rs779192325	332	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1892185 rs754784734	333	Q>L		No	ClinGen ExAC gnomAD
CA348520484 rs1286024416	336	C>Y		No	ClinGen gnomAD
rs1348830727 CA348520504	337	K>E		No	ClinGen TOPMed
rs1339840111 CA348520577	340	K>R		No	ClinGen gnomAD
rs1224540067 CA348520589	341	N>H		No	ClinGen gnomAD
rs1292423737 CA348520610	342	W>G		No	ClinGen TOPMed gnomAD
CA1892189 rs777357828	343	N>K		No	ClinGen ExAC gnomAD
rs200694145 CA1892206	345	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1218733818 CA348520699	345	N>S		No	ClinGen gnomAD
CA1892207 rs752693154	346	Q>K		No	ClinGen ExAC gnomAD
rs1401367809 CA348521741	347	A>T		No	ClinGen gnomAD
rs1317792472 CA348521759	348	T>A		No	ClinGen TOPMed gnomAD
rs1323119585 CA348521770	348	T>I		No	ClinGen TOPMed
rs1317792472 CA348521763	348	T>S		No	ClinGen TOPMed gnomAD
CA1892209 rs114501427	349	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348521789 rs1337098084	350	I>V		No	ClinGen gnomAD
CA1892210 rs748788213	352	E>D		No	ClinGen ExAC gnomAD
rs914767678 CA57075836	354	S>A		No	ClinGen TOPMed
CA348521869 rs1334198714	356	W>*		No	ClinGen gnomAD
CA1892213 rs745492271	356	W>R		No	ClinGen ExAC gnomAD
rs772440116 CA1892214	357	K>Q		No	ClinGen ExAC gnomAD
rs147299309 CA1892216	359	M>V		No	ClinGen ESP ExAC
CA348521909 rs143304264	361	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	361	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	361	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771769300 CA57075837	362	S>P		No	ClinGen Ensembl
CA1892218 rs777104665	364	P>H		No	ClinGen ExAC gnomAD
rs200859634 CA1892219	365	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373978895 CA1892221	366	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA348521965 rs1185975129	370	A>D		No	ClinGen gnomAD
CA348521966 rs1185975129	370	A>G		No	ClinGen gnomAD
CA1892223 rs766692815	372	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1158476865 CA348521977	372	R>Q		No	ClinGen gnomAD
CA348521982 rs1409907934	373	A>S		No	ClinGen gnomAD
rs755938675 CA1892225	376	S>F		No	ClinGen ExAC
CA1892226 rs764174703	379	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1207475470 CA348522032	381	Q>P		No	ClinGen TOPMed
rs1573914744 CA348522039	382	F>L		No	ClinGen Ensembl
rs1221344923 CA348522061	385	P>L		No	ClinGen TOPMed
CA57075839 rs938659010	385	P>S		No	ClinGen TOPMed
COSM1006969 rs142534399 CA1892227	386	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756747602 CA1892228	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778418665 CA1892229	387	K>R		No	ClinGen ExAC gnomAD
rs758115604 CA1892231	388	R>Q		No	ClinGen ExAC gnomAD
CA1892230 rs745359213	388	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1553473108 CA1892232	389	L>P		No	ClinGen Ensembl
CA1892234 rs779650583	391	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1573914811 CA348522101	392	S>F		No	ClinGen Ensembl

No associated diseases with Q6IQ16

4 regional properties for Q6IQ16

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	261 - 422	IPR001650
domain	DEAD/DEAH box helicase domain	70 - 235	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	64 - 265	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	45 - 73	IPR014014

Functions

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

3 GO annotations of cellular component

Name	Definition
Cul3-RING ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul3 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a BTB-domain-containing protein.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

1 GO annotations of molecular function

Name	Definition
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

4 GO annotations of biological process

Name	Definition
negative regulation of protein ubiquitination	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of proteolysis	Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O94955	RHOBTB3	Rho-related BTB domain-containing protein 3	Homo sapiens (Human)	EV
Q6YCH2	Tdpoz4	TD and POZ domain-containing protein 4	Mus musculus (Mouse)	PR
Q2M2N2	Spopl	Speckle-type POZ protein-like	Mus musculus (Mouse)	PR
P34371	bath-42	BTB and MATH domain-containing protein 42	Caenorhabditis elegans	PR
Q9ZUA7	At2g01790	MATH domain and coiled-coil domain-containing protein At2g01790	Arabidopsis thaliana (Mouse-ear cress)	PR
F4IN32	At2g42460	MATH domain and coiled-coil domain-containing protein At2g42460	Arabidopsis thaliana (Mouse-ear cress)	PR
P0DKG7	At2g42480	MATH domain and coiled-coil domain-containing protein At2g42480	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSD2	At3g27040	MATH domain and coiled-coil domain-containing protein At3g27040	Arabidopsis thaliana (Mouse-ear cress)	PR
F4J4A0	At3g44790	MATH domain and coiled-coil domain-containing protein At3g44790	Arabidopsis thaliana (Mouse-ear cress)	PR
F4J4A1	At3g44800	MATH domain and coiled-coil domain-containing protein At3g44800	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M2J5	At3g58210	MATH domain and coiled-coil domain-containing protein At3g58210	Arabidopsis thaliana (Mouse-ear cress)	PR
F4J4P8	At3g58220	MATH domain and coiled-coil domain-containing protein At3g58220	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M2J0	At3g58260	MATH domain and coiled-coil domain-containing protein At3g58260	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M2I2	At3g58340	MATH domain and coiled-coil domain-containing protein At3g58340	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSREPTPPLP	GDMSTGPIAE	SWCYTQVKVV	KFSYMWTINN	FSFCREEMGE	VLKSSTFSSG
70	80	90	100	110	120
PSDKMKWCLR	VNPKGLDDES	KDYLSLYLLL	VSCPKSEVRA	KFKFSLLNAK	REETKAMESQ
130	140	150	160	170	180
RAYRFVQGKD	WGFKKFIRRD	FLLDEANGLL	PDDKLTLFCE	VSVVQDSVNI	SGHTNTNTLK
190	200	210	220	230	240
VPECRLAEDL	GNLWENTRFT	DCSFFVRGQE	FKAHKSVLAA	RSPVFNAMFE	HEMEESKKNR
250	260	270	280	290	300
VEINDLDPEV	FKEMMRFIYT	GRAPNLDKMA	DNLLAAADKY	ALERLKVMCE	EALCSNLSVE
310	320	330	340	350	360
NVADTLVLAD	LHSAEQLKAQ	AIDFINRCSV	LRQLGCKDGK	NWNSNQATDI	METSGWKSMI
370	380	390
QSHPHLVAEA	FRALASAQCP	QFGIPRKRLK	QS