AiPD: Autoinhibited Protein Database

Q96PU5

Gene name	NEDD4L
Protein name	E3 ubiquitin-protein ligase NEDD4-like
Names	HECT-type E3 ubiquitin transferase NED4L, NEDD4.2, Nedd4-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23327
EC number	2.3.2.26: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

125-526 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

125-526 (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

18 structures for Q96PU5

Entry ID	Method	Resolution	Chain	Position	Source
2LAJ	NMR	-	A	496-535	PDB
2LB2	NMR	-	A	386-420	PDB
2LTY	NMR	-	A	385-417	PDB
2MPT	NMR	-			PDB
2NSQ	X-ray	185 A	A	1-154	PDB
2ONI	X-ray	220 A	A	594-967	PDB
3JVZ	X-ray	330 A	C/D	596-975	PDB
3JW0	X-ray	310 A	C/D	596-975	PDB
5HPK	X-ray	243 A	A	594-975	PDB
6ZBT	X-ray	180 A	E/F/G/H	338-347	PDB
6ZC9	X-ray	190 A	E/F/G/H	444-453	PDB
7LP1	X-ray	135 A	A	494-532	PDB
7LP2	X-ray	188 A	A/C/E	385-418	PDB
7LP3	X-ray	161 A	A/C	193-226	PDB
7LP4	NMR	-	A	493-539	PDB
7LP5	NMR	-	A	493-539	PDB
7NMZ	X-ray	230 A	C	335-455	PDB
AF-Q96PU5-F1	Predicted				AlphaFoldDB

631 variants for Q96PU5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA402715919 rs1600253758 RCV000790908	91	F>I	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001209044 CA402551929 COSM191674 rs748006260 RCV001257767	147	R>*	Intellectual disability Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs903587997 CA300909035 RCV001239160 RCV002484305	178	D>E	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002489136 rs185533207 CA8975386 RCV000477215	179	S>T	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001036110 CA8975394 rs764101138 RCV002551348	190	L>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs375316659 RCV001066805 CA8975400 RCV002555858	194	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001072145 RCV001862474 RCV001257766 rs2059194330	208	R>Q	Intellectual disability Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000460253 rs202231187 RCV002496847 CA8975447	233	S>L	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1187131098 CA402554435 RCV001332917	240	I>N	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000804248 rs747072217 CA8975457 RCV002477845	247	R>Q	Variant assessed as Somatic; 9.282e-05 impact. Periventricular nodular heterotopia 7 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2059568312 RCV001334842	252	R>C	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinVar dbSNP
RCV001064368 CA402554763 rs1404724194 RCV002482081	271	E>A	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8975504 RCV000819476 rs773477776 RCV002501131	291	L>V	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002499379 rs749019037 CA8975519 RCV000734557	322	N>S	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3719537 RCV001050920 COSM3719538 RCV002553731 rs375898604 RCV002505596 CA8975543	345	D>N	Periventricular nodular heterotopia 7 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001252598 CA8975561 RCV000662168 rs200565814	363	A>V	Intellectual disability Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8975652 RCV001051788 rs141078303 CA8975653 RCV002553266	427	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
CA8975655 rs775630982 RCV000521270 RCV002490915	439	P>L	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000492069 CA402562767 rs1131690797	445	R>C	Variant assessed as Somatic; impact. Primary dilated cardiomyopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA8975690 RCV001239623 RCV003166493 rs757173296	466	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8975693 RCV000864870 RCV002478963 rs200221331	468	R>Q	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs965302278 RCV002497756 CA300873592 RCV001221892	486	N>S	Variant assessed as Somatic; 0.0 impact. Periventricular nodular heterotopia 7 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV002481931 CA402537401 RCV001046981 rs1297218616	495	T>A	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8975706 rs573738976 RCV000814792 RCV002495146	508	A>V	Variant assessed as Somatic; 0.0 impact. Periventricular nodular heterotopia 7 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
RCV000810228 RCV002487753 CA402537521 rs1365042367	512	R>Q	Variant assessed as Somatic; 0.0 impact. Periventricular nodular heterotopia 7 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA8975737 RCV002493808 RCV001351219 rs369952868	536	M>R	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001232002 RCV002504315 CA8975769 rs769198983	564	T>K	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002504440 rs1008436842 CA300890017 RCV001297808	626	N>T	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA402546743 rs1477791039 RCV001040816 RCV002481883	628	F>I	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA10576009 VAR_077880 rs879255599	679	Y>C	PVNH7 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs1160840546 RCV001249661	688	T>R	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinVar dbSNP
rs879255598 VAR_077881 CA10576010	694	Q>H	PVNH7; increased degradation; changed function in regulation of TOR signaling [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA16608017 RCV002481345 RCV000432003 rs377143286	698	N>S	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370592782 RCV002538188 RCV000814242 CA8975880	720	A>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1242218314 RCV001234127 RCV002484278 CA402550951	735	F>L	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001201659 RCV003163511 rs751509135 CA8975903	747	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2046707868 RCV001031004	749	M>V	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinVar dbSNP
RCV002479327 CA8975925 RCV001053806 rs202127939	758	N>S	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002499626 rs778557607 CA8975955 RCV001322055	822	K>T	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002535934 rs746532070 RCV000821875 CA8976002	872	G>S	Variant assessed as Somatic; 4.642e-05 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA8976034 RCV002489733 rs775922627 RCV001091654	889	L>F	Periventricular nodular heterotopia 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_077882 CA10576011 rs879255597 COSM989217 COSM989219	893	E>K	Variant assessed as Somatic; impact. endometrium PVNH7; increased degradation; changed function in regulation of TOR signaling [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP
VAR_077883 rs879255596 CA10576012	897	R>Q	Variant assessed as Somatic; impact. PVNH7; increased degradation; changed function in regulation of TOR signaling [NCI-TCGA, UniProt]	Yes	ClinGen UniProt Ensembl NCI-TCGA dbSNP
RCV002491802 CA8976070 RCV001241103 rs777624478	958	R>Q	Variant assessed as Somatic; 0.0 impact. Periventricular nodular heterotopia 7 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs62094319 CA301394125	2	A>E		No	ClinGen gnomAD
CA8975049 rs774159867	4	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8975048 rs768863821	4	G>W		No	ClinGen ExAC TOPMed gnomAD
rs201307997 RCV000861367 CA8975050	5	L>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402715011 CA402715012 rs1345758274	6	G>R		No	ClinGen TOPMed gnomAD
CA402715018 rs1297376280	7	E>*		No	ClinGen Ensembl
CA8975051 rs551206250	7	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1598897813 CA402715019	7	E>G		No	ClinGen Ensembl
CA8975052 rs375577826	8	P>Q		No	ClinGen ESP ExAC gnomAD
rs1598897848 CA402715033	9	V>G		No	ClinGen Ensembl
CA402715028 rs1209753272	9	V>I		No	ClinGen TOPMed
CA8975053 rs760237657 RCV001235833	10	Y>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760237657 CA402715038	10	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA402715034 rs1185203471	10	Y>N		No	ClinGen gnomAD
CA402715056 rs1392756435	13	S>C		No	ClinGen gnomAD
CA8975054 rs766377475	13	S>P		No	ClinGen ExAC gnomAD
rs12968145 CA8975056	15	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs12968145 CA301394126	15	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	16	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769255133 CA8975113	17	G>A		No	ClinGen ExAC gnomAD
CA402715209 rs1273725561	18	E>G		No	ClinGen gnomAD
CA402715204 rs1321972184	18	E>K		No	ClinGen gnomAD
CA8975114 rs370078893	19	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8975115 RCV001041211 COSM989180 rs373553230	20	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8975116 rs375068828 RCV001237367	20	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs901451076 CA301408450	22	L>V		No	ClinGen TOPMed gnomAD
rs1209086085 CA402715240	24	V>I		No	ClinGen gnomAD
TCGA novel	24	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248936515 CA402715254	26	V>I		No	ClinGen TOPMed gnomAD
CA8975117 rs774070850	27	V>I		No	ClinGen ExAC gnomAD
CA402715281 rs1196933522	30	I>T		No	ClinGen gnomAD
rs776869289 CA8975120	33	A>D		No	ClinGen ExAC gnomAD
COSM989184 rs771098028 COSM989186 CA8975119 RCV001034374	33	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1457084325 CA402715308	34	K>N		No	ClinGen gnomAD
rs1321626067 CA402715344	39	G>E		No	ClinGen gnomAD
rs2036786192 RCV001349564	41	S>G		No	ClinVar dbSNP
rs1311632359 CA402715562	42	D>Y		No	ClinGen TOPMed
rs1168022706 CA402715573	43	P>L		No	ClinGen gnomAD
rs1412067241 CA402715578	44	Y>C		No	ClinGen gnomAD
rs367741894 CA8975241	45	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs2047139560 RCV001034514	46	K>R		No	ClinVar dbSNP
CA8975242 rs746306800	47	L>F		No	ClinGen ExAC gnomAD
rs1600177605 CA402715621 RCV000801326	51	V>I		No	ClinGen ClinVar Ensembl dbSNP
CA402715636 rs1380359617	53	D>G		No	ClinGen TOPMed
CA301417768 rs1053560286	53	D>N		No	ClinGen TOPMed
rs1452110886 CA402715646	54	E>D		No	ClinGen TOPMed
CA8975245 rs749659281	54	E>K		No	ClinGen ExAC TOPMed gnomAD
CA402715641 rs749659281	54	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs200025824 CA8975246 RCV000792979	55	N>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1192088763 CA402715652	55	N>K		No	ClinGen TOPMed
rs1217351344 CA402715650	55	N>S		No	ClinGen gnomAD
rs1277689015 CA402715657	56	R>T		No	ClinGen gnomAD
rs1600177838 CA402715667	57	E>D		No	ClinGen Ensembl
CA301417769 rs866161211	59	A>S		No	ClinGen Ensembl
CA402715688 rs1205300134	61	V>L		No	ClinGen gnomAD
rs910907201 CA301417770	65	T>K		No	ClinGen TOPMed
CA301417771 rs646509	66	I>L		No	ClinGen Ensembl
rs774104851 CA8975248	66	I>N		No	ClinGen ExAC gnomAD
rs1242715944 CA402715726	67	K>E		No	ClinGen gnomAD
TCGA novel	67	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216505218 CA402715740	68	K>N		No	ClinGen TOPMed
rs750511549 CA8975261	69	T>I		No	ClinGen ExAC gnomAD
CA402715778 rs1196820903	73	K>E		No	ClinGen gnomAD
CA402715812 rs1331870721	77	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8975278 rs762094975	82	V>I		No	ClinGen ExAC gnomAD
rs767767265 CA8975279	83	N>K		No	ClinGen ExAC TOPMed gnomAD
CA402715871 rs1471566713	83	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	85	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478849700 CA402715885	85	S>F		No	ClinGen TOPMed
CA8975281 rs760779722	87	H>L		No	ClinGen ExAC gnomAD
TCGA novel	100	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402547752 rs1383776547	101	R>*		No	ClinGen TOPMed gnomAD
rs1248345919 CA402547757	101	R>Q		No	ClinGen gnomAD
CA8975304 rs765817235	103	D>N		No	ClinGen ExAC
rs758747799 CA300901517	109	D>E		No	ClinGen ExAC TOPMed gnomAD
CA402548114 rs1253943186	109	D>V		No	ClinGen TOPMed
rs1228729549 CA402548098	109	D>Y		No	ClinGen gnomAD
CA8975308 rs777311647 RCV001214973	110	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8975307 rs777311647	110	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402548164 rs1265428529	111	P>A		No	ClinGen TOPMed
rs1568669229 CA402548207	112	L>P		No	ClinGen Ensembl
RCV001323472 rs2058221483	113	S>C		No	ClinVar dbSNP
CA402548240 rs1217133917	113	S>I		No	ClinGen TOPMed
rs756725290 CA8975309	114	H>R		No	ClinGen ExAC gnomAD
rs1243436799 CA402548355	116	P>A		No	ClinGen gnomAD
COSM245992 CA300901532 rs572854572	116	P>L	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs755584937 RCV001340938	119	D>G		No	ClinVar dbSNP
rs755584937 CA8975332	119	D>V		No	ClinGen ExAC gnomAD
rs1471095573 CA402551232	124	R>*		No	ClinGen gnomAD
CA8975334 COSM989189 COSM989187 rs749180174	124	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA300906783 rs886452010	126	Y>C		No	ClinGen TOPMed gnomAD
CA300906786 rs924232010	129	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	132	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284355400 CA402551537	136	R>G		No	ClinGen gnomAD
CA402551575 rs747869818	137	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8975337 rs747869818	137	S>T		No	ClinGen ExAC TOPMed gnomAD
CA300907333 rs1019679859	141	R>Q		No	ClinGen TOPMed
CA402551876 rs1481096195	144	G>V		No	ClinGen gnomAD
CA402551884 rs1237093210	145	F>L		No	ClinGen TOPMed
CA402551931 rs1444142773	147	R>Q		No	ClinGen gnomAD
rs758216461 CA8975358 RCV001346197	149	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001034178 rs1387631298 CA402551968	149	K>N		No	ClinGen ClinVar dbSNP gnomAD
rs2059009305 RCV001322955	150	M>I		No	ClinVar dbSNP
rs1428314420 CA402551986	151	A>T		No	ClinGen gnomAD
CA402552025 RCV001045049 rs1355436205	153	M>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1178688498 CA402552016	153	M>V		No	ClinGen TOPMed
rs1220311104 CA402552038	154	P>R		No	ClinGen TOPMed
rs987748532 CA300907379	154	P>T		No	ClinGen TOPMed
CA402552044 rs1376837582	155	K>E		No	ClinGen gnomAD
rs964462807 CA300907385	155	K>R		No	ClinGen Ensembl
rs1601236438 RCV000996693	156	N>missing		No	ClinVar dbSNP
TCGA novel	156	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	156	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781576892 CA8975359	156	N>S		No	ClinGen ExAC gnomAD
rs746022345 CA8975361 RCV001301616	161	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8975362 rs770138140	162	E>D		No	ClinGen ExAC gnomAD
CA402552158 rs1238697790	163	N>D		No	ClinGen TOPMed
rs2059012277 RCV001306334	164	S>G		No	ClinVar dbSNP
RCV001232939 rs1339990901 CA402552209	166	Q>E		No	ClinGen ClinVar dbSNP gnomAD
rs2059012885 RCV001309410	170	M>V		No	ClinVar dbSNP
rs1273488614 CA402552286	171	E>K		No	ClinGen TOPMed gnomAD
rs772551955 CA402552471	172	H>L		No	ClinGen ExAC gnomAD
CA8975385 rs772551955	172	H>R		No	ClinGen ExAC gnomAD
CA8975384 RCV000983863 rs376332407	172	H>Y		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001034488 rs2059187873	176	V>I		No	ClinVar dbSNP
rs760992833 CA402552554	182	S>A		No	ClinGen ExAC TOPMed gnomAD
rs770647033 RCV001343847 CA8975388	182	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760992833 RCV001345121 CA8975387	182	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA402552558 rs372009925	183	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8975390 rs372009925 RCV001034144	183	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000936153 rs532202382 CA8975391	184	S>F		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA402552581 rs1360257788	186	H>Q		No	ClinGen TOPMed
rs752252065 CA8975392	186	H>R		No	ClinGen ExAC gnomAD
CA8975393 RCV001041533 rs763043961	189	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA402552599 rs1225069951	189	E>Q		No	ClinGen TOPMed gnomAD
rs1167552515 CA402552607	190	L>H		No	ClinGen gnomAD
CA402552618 rs1204697883 RCV001038638	192	P>S		No	ClinGen ClinVar dbSNP gnomAD
rs756966376 CA8975398	193	P>H		No	ClinGen ExAC
rs756966376 CA402552626	193	P>L		No	ClinGen ExAC
rs755092498 CA8975401	194	P>L		No	ClinGen ExAC gnomAD
RCV001038173 rs747010088	194	P>missing		No	ClinVar dbSNP
rs1201967752 COSM709266 CA402552644 COSM709267	197	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs561684774 CA8975404	198	G>R		No	ClinGen ExAC TOPMed gnomAD
rs79871407 CA300909188	201	E>G		No	ClinGen Ensembl
rs1601261633 RCV000816047 CA402552695	203	V>L		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	203	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	214	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769476442 CA8975411	215	N>I		No	ClinGen ExAC TOPMed gnomAD
CA8975410 rs769476442	215	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1334263665 CA402552894	217	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
RCV001343305 CA402552997 rs1243405379	225	S>G		No	ClinGen ClinVar TOPMed dbSNP
rs765464540 CA402554360	228	D>E		No	ClinGen ExAC TOPMed gnomAD
rs987266983 CA300912940	228	D>N		No	ClinGen TOPMed gnomAD
CA402554363 rs752858201	229	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752858201 CA8975442	229	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402554372 rs1601316857 COSM1523687 COSM1523688	230	S>F	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8975443 rs758477675	231	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8975446 rs757754811	232	E>G		No	ClinGen ExAC gnomAD
RCV001070976 CA402554388 rs202231187	233	S>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374596225 CA402554397	234	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375921587 CA8975450	235	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs543275250 CA8975451	237	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8975453 rs778348493	239	Q>H		No	ClinGen ExAC gnomAD
rs555286058 CA8975452	239	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA402554434 rs1260961412	240	I>F		No	ClinGen TOPMed gnomAD
CA402554433 rs1260961412 RCV001339352	240	I>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1265950403 CA402554449	242	Q>*		No	ClinGen Ensembl
rs1195130035 CA402554465	244	A>S		No	ClinGen TOPMed gnomAD
rs1195130035 CA402554463	244	A>T		No	ClinGen TOPMed gnomAD
rs1426910030 CA402554468	244	A>V		No	ClinGen gnomAD
CA402554478 rs747660836	246	H>P		No	ClinGen ExAC gnomAD
CA8975454 rs747660836	246	H>R		No	ClinGen ExAC gnomAD
CA402554484 RCV000802398 rs747072217	247	R>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8975456 rs771932025	247	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770645785 CA8975458	248	R>C		No	ClinGen ExAC gnomAD
CA300913103 rs948274978 RCV000935703	248	R>H		No	ClinGen ClinVar dbSNP gnomAD
CA300913106 rs1045059982	250	R>C		No	ClinGen Ensembl
rs1383247620 CA402554500	250	R>H		No	ClinGen gnomAD
TCGA novel	252	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2059568831 RCV001217582	256	S>N		No	ClinVar dbSNP
rs1283539410 CA402554570	258	D>H		No	ClinGen gnomAD
CA402554618 rs1259612443	260	E>D		No	ClinGen gnomAD
CA8975463 rs764280225 RCV000864475	261	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000796692 rs761913257 COSM3670217 COSM3670216 CA8975465	262	E>K	upper_aerodigestive_tract central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA402554646 rs1490130117	263	P>S		No	ClinGen gnomAD
CA300913189 RCV001034362 rs200330105	264	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8975466 rs200330105	264	S>W		No	ClinGen ExAC TOPMed gnomAD
rs995451062 CA300913205	265	E>D		No	ClinGen gnomAD
CA402554687 rs1363271940	267	G>R		No	ClinGen TOPMed gnomAD
rs1016545577 CA300913219	268	D>G		No	ClinGen TOPMed
CA402554699 rs1467050147	268	D>Y		No	ClinGen TOPMed
rs373720887 RCV001313844 CA300913231	271	E>K		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000863489 CA300914931 rs371954364	272	P>L		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA8975494 rs757981794	272	P>S		No	ClinGen ExAC TOPMed gnomAD
rs75307567 CA300914933	273	W>*		No	ClinGen Ensembl
rs1019412718 CA300914932	273	W>R		No	ClinGen TOPMed gnomAD
rs1409593114 CA402555331	274	E>K		No	ClinGen gnomAD
CA8975497 rs757226603	280	V>A		No	ClinGen ExAC TOPMed gnomAD
rs549070916 CA8975498	281	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408580789 CA402555446	283	A>P		No	ClinGen gnomAD
CA402555445 rs1408580789	283	A>T		No	ClinGen gnomAD
CA402555472 rs1189206051	285	D>A		No	ClinGen TOPMed
rs1170185787 CA402555492	286	S>F		No	ClinGen gnomAD
CA8975500 rs769574778	288	G>C		No	ClinGen ExAC gnomAD
CA8975501 rs769574778	288	G>S		No	ClinGen ExAC gnomAD
rs376568942 CA402555519	289	L>V		No	ClinGen ESP gnomAD
rs748474298 CA8975503	290	A>S		No	ClinGen ExAC gnomAD
CA8975502 rs748474298 RCV001343604	290	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	290	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402555550 rs1359697888	292	P>S		No	ClinGen gnomAD
CA300914962 rs1049200962	293	P>A		No	ClinGen Ensembl
CA300914985 rs760793783	293	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760793783 CA8975505	293	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA402555570 rs988690506	294	P>Q		No	ClinGen TOPMed gnomAD
CA300914988 rs988690506	294	P>R		No	ClinGen TOPMed gnomAD
CA8975506 rs767012351	294	P>S		No	ClinGen ExAC gnomAD
CA402555581 rs1261449046	295	P>A		No	ClinGen gnomAD
rs147209028 CA8975508	295	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs147209028 RCV001219442	295	P>Q		No	ClinVar dbSNP
rs147209028 CA402555584	295	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs369196753 CA8975510	299	G>A		No	ClinGen ESP ExAC gnomAD
CA300915000 rs779437307	300	S>F		No	ClinGen Ensembl
rs372196719 RCV001298829 CA8975512	301	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs968257095 RCV001065264 CA300915008	301	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2059730890 RCV001295794	304	P>L		No	ClinVar dbSNP
rs2059730728 RCV001049340	304	P>S		No	ClinVar dbSNP
CA402555666 rs1368938795	305	Q>R		No	ClinGen TOPMed
CA402555709 rs1277113788	308	S>L		No	ClinGen TOPMed
CA8975514 rs756707823	310	E>K		No	ClinGen ExAC gnomAD
rs2059732245 RCV001034251	312	S>N		No	ClinVar dbSNP
TCGA novel	316	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343420176 CA402555826	316	Q>R		No	ClinGen gnomAD
TCGA novel	317	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8975516 rs745740597	317	I>V		No	ClinGen ExAC gnomAD
rs756003748 CA8975517	318	T>I		No	ClinGen ExAC gnomAD
CA402555862 rs1342172777	319	P>A		No	ClinGen gnomAD
TCGA novel	320	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8975518 rs376389246	321	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA402555899 rs1281622732	322	N>D		No	ClinGen gnomAD
RCV000821466 CA300915106 RCV001193518 rs991844120	323	G>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA402555918 rs991844120	323	G>V		No	ClinGen TOPMed gnomAD
CA402555926 rs1413687345	324	E>K		No	ClinGen TOPMed
rs1489484267 CA402555989	326	F>I		No	ClinGen TOPMed gnomAD
rs190926188 RCV001237653 CA8975522	327	S>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA402556050 rs1478144076	328	S>F		No	ClinGen gnomAD
CA402556039 rs1428245744	328	S>P		No	ClinGen TOPMed gnomAD
CA402556038 rs1428245744	328	S>T		No	ClinGen TOPMed gnomAD
CA402556055 rs1263066048	329	L>S		No	ClinGen gnomAD
rs1601342676 CA402556078 RCV000799980	330	I>T		No	ClinGen ClinVar Ensembl dbSNP
rs771064505 CA8975523	330	I>V		No	ClinGen ExAC gnomAD
CA8975538 rs527255863	332	R>K		No	ClinGen 1000Genomes ExAC gnomAD
RCV001308989 rs2041359916	336	S>P		No	ClinVar dbSNP
rs747298837 CA8975540	341	C>G		No	ClinGen ExAC gnomAD
CA402556690 RCV001231274 rs1388246823	343	V>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA402556720 rs1451132596	344	T>S		No	ClinGen TOPMed
CA8975545 RCV000798424 rs545427970	346	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8975546 rs763389898 RCV001058820	346	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs768944555 CA8975547	348	A>V		No	ClinGen ExAC gnomAD
rs2041364455 RCV001318637	349	E>Q		No	ClinVar dbSNP
CA402556841 rs1211941930	350	Q>E		No	ClinGen gnomAD
CA402556901 rs1270448589	351	G>A		No	ClinGen gnomAD
rs774694587 CA8975548	351	G>R		No	ClinGen ExAC
CA402556932 rs924303449	352	H>L		No	ClinGen TOPMed gnomAD
CA300916932 rs924303449	352	H>R		No	ClinGen TOPMed gnomAD
VAR_023415 rs767136811 RCV000867609 CA8975550	355	P>L	Variant assessed as Somatic; 0.0 impact. impaired ability to inhibit SCNN [NCI-TCGA, UniProt]	No	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	355	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402558392 rs1201691357	357	S>G		No	ClinGen TOPMed
TCGA novel	357	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781523882 CA8975560	360	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8975562 rs200565814	363	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8975563 rs780617420	364	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1389270 rs373080858 CA8975564	364	R>H	large_intestine Variant assessed as Somatic; 9.282e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs774749498 CA8975566	366	S>*		No	ClinGen ExAC gnomAD
rs1302326421 CA402558625	367	T>A		No	ClinGen gnomAD
rs1232919338 CA402558650	368	V>I		No	ClinGen TOPMed gnomAD
CA402558670 rs1601399749	369	T>A		No	ClinGen Ensembl
CA8975569 rs199527463	369	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199527463 CA8975568	369	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340323335 CA402558699	370	G>D		No	ClinGen gnomAD
rs765869459 CA8975571	372	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1023433977 CA300918052	374	P>A		No	ClinGen Ensembl
rs753372731 CA402558827	375	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM989193 rs753372731 CA8975572	375	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs867675966 CA300921977	376	P>S		No	ClinGen Ensembl
rs753954381 CA8975600	380	Y>C		No	ClinGen ExAC gnomAD
RCV001059637 rs2042355371	380	Y>H		No	ClinVar dbSNP
rs1002690517 CA300921987	382	H>N		No	ClinGen TOPMed
CA300921991 rs1039095191 RCV001305836	382	H>R		No	ClinGen ClinVar Ensembl dbSNP
rs370254467 CA8975602	384	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs370254467 RCV001040059	384	T>R		No	ClinVar dbSNP
RCV001071934 rs543506411 CA8975604	385	P>L		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA402561002 rs543506411	385	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8975608 rs776297860	389	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA300922054 rs1010706982	392	E>Q		No	ClinGen Ensembl
CA402561275 rs745384885	395	K>N		No	ClinGen ExAC gnomAD
CA300922063 rs868658981	397	A>D		No	ClinGen Ensembl
CA8975611 rs775137243	397	A>T		No	ClinGen ExAC gnomAD
rs1440352203 CA402561364	398	K>E		No	ClinGen gnomAD
COSM269711 CA402561408 rs1460158008 COSM989194	400	R>C	oesophagus large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA402561422 rs1383866958 RCV000899292	400	R>H		No	ClinGen ClinVar dbSNP gnomAD
rs1383866958 CA402561417	400	R>L		No	ClinGen gnomAD
CA300922072 rs764292982	402	Y>*		No	ClinGen gnomAD
CA8975616 rs766536186	402	Y>F		No	ClinGen ExAC gnomAD
rs761631435 CA8975615	402	Y>H		No	ClinGen ExAC
TCGA novel	403	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	404	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8975617 rs754006042	404	V>L		No	ClinGen ExAC gnomAD
rs1330224857 CA402561576	405	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs2042365082 RCV001309431	406	H>R		No	ClinVar dbSNP
rs1400423963 CA402561655	407	N>S		No	ClinGen gnomAD
CA8975618 rs759746029	408	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1312844888 CA402561770	409	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402561783 rs765354549	410	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8975619 rs765354549 RCV001226037	410	T>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	411	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375632687 CA8975621 RCV001368044	412	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8975622 rs778300242	412	T>I		No	ClinGen ExAC TOPMed gnomAD
CA402561924 rs1197017996	415	R>*		No	ClinGen gnomAD
rs1257608713 RCV001222203 CA402561927	415	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16607958 rs1057524052 RCV000421607	417	I>V		No	ClinGen ClinVar Ensembl dbSNP
RCV001233977 CA8975625 rs780996467	418	M>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1236299484 CA402562046	418	M>T		No	ClinGen gnomAD
rs757583506 CA8975624	418	M>V		No	ClinGen ExAC gnomAD
rs1601476338 CA402562277	421	A>S		No	ClinGen Ensembl
rs1264313027 CA402562297	422	E>K		No	ClinGen gnomAD
rs1489454109 CA402562347	423	D>H		No	ClinGen TOPMed gnomAD
CA402562351 rs1489454109	423	D>N		No	ClinGen TOPMed gnomAD
CA8975650 rs748170219 RCV001034475	425	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1359587899 CA402562518	432	S>G		No	ClinGen Ensembl
RCV000872325 rs1245506692 CA402562542	433	N>D		No	ClinGen ClinVar TOPMed dbSNP
CA402562549 RCV000798875 rs1159067435	433	N>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA402562585 rs1362252752	434	N>K		No	ClinGen gnomAD
CA402562588 rs1284574461	435	H>N		No	ClinGen TOPMed
rs368435758 CA402562634	437	I>M		No	ClinGen gnomAD
rs989383241 CA300922586	437	I>V		No	ClinGen TOPMed gnomAD
rs1465434906 CA402562637	438	E>K		No	ClinGen Ensembl
CA8975656 rs762946023	442	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8975657 RCV000983858 rs34792654	442	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	443	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402562802 rs1319389941	447	L>F		No	ClinGen gnomAD
rs762433818 CA8975659	449	S>W		No	ClinGen ExAC gnomAD
CA402562878 rs1208361468	451	T>A		No	ClinGen TOPMed gnomAD
rs2042454132 RCV001338254	451	T>I		No	ClinVar dbSNP
TCGA novel	454	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469777807 CA402562957	455	S>C		No	ClinGen gnomAD
rs1223192688 CA402562971	456	A>D		No	ClinGen TOPMed gnomAD
rs756501638 CA8975662	456	A>T		No	ClinGen ExAC gnomAD
rs1223192688 CA402562973	456	A>V		No	ClinGen TOPMed gnomAD
CA8975663 rs766146854 RCV000917890	457	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs766146854 CA402562988	457	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8975687 rs757843851	460	G>D		No	ClinGen ExAC gnomAD
CA402536917 rs1341466598	461	A>G		No	ClinGen gnomAD
TCGA novel	463	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402536958 rs1247364915	464	S>L		No	ClinGen gnomAD
CA300873541 rs904492158	464	S>P		No	ClinGen TOPMed
rs1275987222 CA402536959	465	P>T		No	ClinGen gnomAD
CA402536974 rs757173296	466	V>L		No	ClinGen ExAC TOPMed gnomAD
CA300873556 rs952655555	467	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM3403582 CA8975691 COSM3403583 rs781089843 RCV001218577	467	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
COSM989198 rs1199827684 CA402536994 COSM989196	468	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs778955783 CA8975694	469	A>T		No	ClinGen ExAC gnomAD
CA402537036 rs1191226455	470	V>A		No	ClinGen gnomAD
rs1601494571 CA402537072	473	T>P		No	ClinGen Ensembl
TCGA novel	479	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402537263 rs1464565097	484	P>R		No	ClinGen gnomAD
CA402537270 rs1172516695	485	Y>H		No	ClinGen gnomAD
CA402537295 rs1601494837	486	N>K		No	ClinGen Ensembl
rs965302278 CA402537291	486	N>T		No	ClinGen gnomAD
rs920960768 CA300873595	490	P>S		No	ClinGen Ensembl
rs1339486932 CA402537359	491	Q>H		No	ClinGen gnomAD
rs368215092 CA8975700	493	K>I		No	ClinGen ESP ExAC gnomAD
rs932312871 CA300873603	493	K>N		No	ClinGen Ensembl
rs764949955 CA8975702	496	Q>H		No	ClinGen ExAC TOPMed gnomAD
VAR_023416	497	S>R		No	UniProt
RCV001067693 rs752290215 CA8975703	498	F>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1347015954 CA402537445	500	P>L		No	ClinGen gnomAD
CA402537447 rs1214237303	501	P>A		No	ClinGen gnomAD
RCV001053873 CA402537456 rs1463349898	502	G>D		No	ClinGen ClinVar TOPMed dbSNP
CA8975705 rs763660568	502	G>S		No	ClinGen ExAC TOPMed gnomAD
CA300873613 rs1027863827	504	E>K		No	ClinGen TOPMed gnomAD
rs1264050049 CA402537479	505	M>I		No	ClinGen gnomAD
CA402537477 rs1330683051	505	M>T		No	ClinGen TOPMed
rs1431514902 CA402537484	506	R>K		No	ClinGen gnomAD
rs199582650 RCV001207072	510	N>K		No	ClinVar dbSNP
rs755796418 CA8975710	511	G>S		No	ClinGen ExAC TOPMed gnomAD
rs748435237 CA300873629	512	R>G		No	ClinGen ExAC gnomAD
CA402537538 rs1433412051	515	F>I		No	ClinGen TOPMed
rs1433412051 CA402537539	515	F>L		No	ClinGen TOPMed
CA8975714 rs367988272	516	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8975713 rs375787954	516	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357877128 CA402537863	518	H>R		No	ClinGen TOPMed
rs1175477617 CA402537889	519	N>S		No	ClinGen TOPMed
CA402537963 RCV001327078 rs1373145711	523	T>A		No	ClinGen ClinVar dbSNP gnomAD
rs757228161 CA8975733	526	E>D		No	ClinGen ExAC gnomAD
rs1020866073 CA300877228	529	R>C		No	ClinGen TOPMed
rs781320191 CA8975734	532	F>I		No	ClinGen ExAC gnomAD
rs375470869 CA8975736	535	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375470869 CA402539963	535	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369952868 CA402539984	536	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	537	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247652122 CA402540007	537	R>Q		No	ClinGen TOPMed
CA402540013 rs1330066921	538	S>T		No	ClinGen gnomAD
rs768327011 CA8975739	543	N>K		No	ClinGen ExAC gnomAD
CA8975740 rs773924900	545	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV001034495 rs2043605578	546	D>N		No	ClinVar dbSNP
TCGA novel	554	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363464019 RCV001213998 CA402540818	556	E>K		No	ClinGen ClinVar TOPMed dbSNP
rs928322241 CA402540835	557	R>G		No	ClinGen TOPMed
CA402540876 rs1447932275	558	I>T		No	ClinGen TOPMed
rs958611451 CA300878477	559	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs757470144 CA8975767	563	R>G		No	ClinGen ExAC gnomAD
rs767730323 CA8975768	563	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1188940410 CA402540972	564	T>A		No	ClinGen gnomAD
TCGA novel	565	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402541016 rs1175391326	566	Y>F		No	ClinGen gnomAD
rs1358411238 CA402541051	569	H>R		No	ClinGen gnomAD
rs887793226 CA300878513	570	N>Y		No	ClinGen TOPMed
CA8975795 rs755945721	572	K>R		No	ClinGen ExAC
rs2044795067 RCV001240286	574	T>S		No	ClinVar dbSNP
rs558613835 CA300884274	582	Q>K		No	ClinGen Ensembl
rs755525575 CA8975796	586	I>V		No	ClinGen ExAC gnomAD
TCGA novel	588	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300884287 rs777517791	589	P>L		No	ClinGen TOPMed
TCGA novel	590	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300888873 rs796959222	595	R>*		No	ClinGen Ensembl
CA300888875 rs1056763634	595	R>S		No	ClinGen TOPMed
CA8975827 rs768443117	596	E>G		No	ClinGen ExAC
rs1253068633 CA402545766	596	E>Q		No	ClinGen gnomAD
rs915663591 CA300888880	601	Y>C		No	ClinGen Ensembl
CA300888886 rs868256982	602	D>G		No	ClinGen TOPMed
CA300888892 rs867236078	604	F>L		No	ClinGen Ensembl
CA402545955 rs1447314156	606	K>R		No	ClinGen gnomAD
rs2045860030 RCV001241056	607	K>T		No	ClinVar dbSNP
TCGA novel	608	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000813465 CA8975829 rs371275002	608	L>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402546007 rs1166999309	609	K>E		No	ClinGen gnomAD
CA300888922 rs867623207	611	P>H		No	ClinGen Ensembl
rs1205835052 CA402546449	616	N>S		No	ClinGen gnomAD
rs755715125 RCV001312884 CA8975842	617	R>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs889611933 CA300890000	620	M>I		No	ClinGen TOPMed
TCGA novel	622	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300890005 rs1028712687	623	H>R		No	ClinGen Ensembl
CA8975843 rs779651708	625	N>S		No	ClinGen ExAC gnomAD
rs1601746027 CA402546730	627	I>V		No	ClinGen Ensembl
rs763159512 COSM3701386 COSM3701385 CA300890022	630	E>Q	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM989202 rs748722766 CA8975844 COSM989204	633	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM276297 CA402546856 rs1455899867	633	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8975845 rs754961615	635	I>M		No	ClinGen ExAC gnomAD
CA402546962 rs1426839029	636	M>I		No	ClinGen TOPMed
CA402547007 rs201102807	638	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201102807 CA8975848	638	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA402547053 rs1387971746	640	R>K		No	ClinGen gnomAD
rs1439431266 CA402547070	641	P>A		No	ClinGen gnomAD
rs1326570206 CA402547084	641	P>L		No	ClinGen gnomAD
CA402547227 rs1601746398	647	R>T		No	ClinGen Ensembl
rs2046079725 RCV001034113	650	I>T		No	ClinVar dbSNP
TCGA novel	652	F>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305985187 CA402547527	657	G>R		No	ClinGen gnomAD
rs1207997677 CA402547583	659	D>N		No	ClinGen TOPMed
CA402547722 rs1201550915	662	G>V		No	ClinGen TOPMed
CA402547908 rs532706423	667	W>*		No	ClinGen ExAC TOPMed gnomAD
rs532706423 CA8975854	667	W>C		No	ClinGen ExAC TOPMed gnomAD
CA402547966 rs1601746717	668	F>V		No	ClinGen Ensembl
CA402548281 rs1324147255	677	N>D		No	ClinGen TOPMed
CA402548408 rs1177274433	680	Y>F		No	ClinGen gnomAD
rs2046085665 RCV001036196	682	L>F		No	ClinVar dbSNP
rs1242344932	688	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8975857 rs565332359	688	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA402548613 rs1160840546 RCV001068984	688	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8975876 rs773646297	691	Y>C		No	ClinGen ExAC gnomAD
CA300891030 rs11152067	692	T>P		No	ClinGen Ensembl
CA8975877 rs377143286	698	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1060503574 CA16616083 RCV000457922	700	G>A		No	ClinGen ClinVar dbSNP gnomAD
rs753495237 CA8975879	713	I>V		No	ClinGen ExAC
rs1354543402 CA402549926	716	V>I		No	ClinGen gnomAD
rs1255475882 CA402549940	718	G>C		No	ClinGen TOPMed
CA8975882 rs764634193	721	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	724	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402549984 rs1218196440	725	K>T		No	ClinGen TOPMed
CA8975901 rs762385384	729	G>D		No	ClinGen ExAC gnomAD
rs1568877918 CA402550848	732	I>T		No	ClinGen Ensembl
TCGA novel	732	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs904466003 CA402550989	736	Y>*		No	ClinGen TOPMed
rs1568878110 CA402551058	738	M>K		No	ClinGen Ensembl
rs1335588465 CA402551093	739	M>I		No	ClinGen TOPMed gnomAD
CA8975902 rs764108399	739	M>T		No	ClinGen ExAC gnomAD
rs1172972866 CA402551079	739	M>V		No	ClinGen TOPMed
rs1235631582 CA402551185	743	Q>E		No	ClinGen gnomAD
CA402551228 rs1420987841	745	T>I		No	ClinGen TOPMed
RCV001299424 rs2046707609	748	D>E		No	ClinVar dbSNP
rs757213039 CA8975904	750	E>Q		No	ClinGen ExAC gnomAD
CA402552738 rs755901908	755	E>D		No	ClinGen ExAC gnomAD
CA300894488 rs866791282	760	L>F		No	ClinGen Ensembl
rs1333490797 CA402552913	767	D>E		No	ClinGen TOPMed
rs2047124967 RCV001070905	769	T>I		No	ClinVar dbSNP
rs757736499 CA8975930	774	M>T		No	ClinGen ExAC gnomAD
rs747066497 CA8975929	774	M>V		No	ClinGen ExAC gnomAD
TCGA novel	775	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001045594 rs2047126755	777	I>R		No	ClinVar dbSNP
rs1182242080 CA402553085	779	E>V		No	ClinGen gnomAD
TCGA novel	780	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2047127716 RCV001352221	781	N>T		No	ClinVar dbSNP
CA402553156 rs1186015726	783	G>E		No	ClinGen gnomAD
rs1392435209 CA402555057	785	T>I		No	ClinGen gnomAD
rs1311964841 CA402555068	787	Q>*		No	ClinGen gnomAD
rs1375665998 CA402555103	792	P>T		No	ClinGen gnomAD
rs2048579090 RCV001240595	793	N>D		No	ClinVar dbSNP
CA8975940 rs773223658	793	N>S		No	ClinGen ExAC TOPMed gnomAD
CA300901328 rs537233805	797	I>T		No	ClinGen 1000Genomes
CA8975943 rs753666609	798	M>I		No	ClinGen ExAC gnomAD
CA8975942 rs766319722	798	M>V		No	ClinGen ExAC gnomAD
rs1271790462 CA402555157	800	T>S		No	ClinGen gnomAD
rs2048580915 RCV001214420	801	N>S		No	ClinVar dbSNP
rs1345548153	808	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA300901364 rs868820698 RCV001229033	809	D>N		No	ClinGen ClinVar TOPMed dbSNP
rs768223994 CA8975954	821	Q>R		No	ClinGen ExAC gnomAD
rs747621156 CA8975956	823	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	825	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254034796 CA402556436 RCV001347526	826	A>T		No	ClinGen ClinVar dbSNP gnomAD
rs1435206195 CA402556486	829	E>A		No	ClinGen gnomAD
rs771000842 CA8975986	835	L>F		No	ClinGen ExAC gnomAD
rs1483555632 CA402557723	836	P>R		No	ClinGen gnomAD
TCGA novel	836	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	843	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402557846 rs1206863482	843	F>S		No	ClinGen gnomAD
rs1254959337 CA402557873	844	D>H		No	ClinGen gnomAD
CA402557924 rs1485093870	846	N>I		No	ClinGen gnomAD
CA402557955 rs1325841919 RCV001034352	847	E>D		No	ClinGen ClinVar TOPMed dbSNP
CA402557960 rs370069597	848	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA300903892 rs868171621	849	E>D		No	ClinGen Ensembl
COSM989214 RCV000811711 COSM989216 rs1185926634 CA402558322	854	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs867279787 CA300905036	856	G>S		No	ClinGen TOPMed
CA8975998 rs765670927	859	D>G		No	ClinGen ExAC TOPMed gnomAD
rs752957596 CA8975999	861	N>D		No	ClinGen ExAC
CA8976000 rs369608371	868	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168031232 CA402558758	870	K>R		No	ClinGen TOPMed
CA402558803 rs141136641	871	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402558791 rs1434358999	871	N>S		No	ClinGen gnomAD
rs756886193 CA8976003	873	Y>*		No	ClinGen ExAC gnomAD
RCV001221615 rs2049446731	874	C>F		No	ClinVar dbSNP
rs1288858218 CA402558871	874	C>G		No	ClinGen gnomAD
CA402558866 rs1288858218	874	C>S		No	ClinGen gnomAD
RCV001221616 rs2049446994	875	P>Q		No	ClinVar dbSNP
CA402558919 rs1602027384	876	N>T		No	ClinGen Ensembl
CA402558939 rs1602027464	877	H>P		No	ClinGen Ensembl
CA300905083 rs907217983 RCV001242297	879	V>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1347550161 CA402559029	881	Q>E		No	ClinGen gnomAD
CA8976005 rs745860270	882	W>R		No	ClinGen ExAC gnomAD
rs769594334 RCV001070995 CA8976006	882	W>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA402559882 rs1163473159	888	L>V		No	ClinGen gnomAD
CA402559923 rs1325978327	890	M>T		No	ClinGen gnomAD
rs1168844852 CA402559912	890	M>V		No	ClinGen TOPMed
CA402560020 rs1288511463	894	K>N		No	ClinGen gnomAD
CA402560087 rs1470762714	898	L>F		No	ClinGen TOPMed
rs1292654849 CA402560150	901	F>C		No	ClinGen gnomAD
TCGA novel	907	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402560270 rs1436959214	907	R>Q		No	ClinGen gnomAD
CA402560321 rs1261299378	910	M>V		No	ClinGen gnomAD
rs1484104502 CA402560430	915	E>Q		No	ClinGen gnomAD
rs753835514 CA8976043	917	Y>H		No	ClinGen ExAC gnomAD
CA8976055 RCV001037339 rs775681701	920	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1382744717 CA402561751	926	T>K		No	ClinGen TOPMed
rs1468279486 CA402561775	927	I>K		No	ClinGen TOPMed
rs757461439 CA8976056	927	I>V		No	ClinGen ExAC TOPMed gnomAD
rs531389307 CA8976057	929	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA402561938 rs1568950112	932	S>N		No	ClinGen Ensembl
rs2049836298 RCV001317763	933	P>R		No	ClinVar dbSNP
rs1429073619 CA402562061	934	E>K		No	ClinGen gnomAD
rs367735608 RCV001223918 CA8976060	939	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1322381885 CA402563899	945	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402563922 rs1251263482	947	D>N		No	ClinGen TOPMed
CA402564005 rs1229542194	950	P>L		No	ClinGen TOPMed
CA402564013 rs1385995724	951	Y>H		No	ClinGen gnomAD
CA402564073 rs1344759824	953	T>I		No	ClinGen TOPMed
CA402564096 rs1331871223	955	E>Q		No	ClinGen gnomAD
CA402564127 rs1313116312	956	D>V		No	ClinGen TOPMed
CA402564151 rs1235646670	957	L>F		No	ClinGen gnomAD
rs1341135583 CA402564193	959	E>D		No	ClinGen TOPMed
CA402564235 rs1568964410	962	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1209912013 CA402564255	963	M>L		No	ClinGen TOPMed gnomAD
RCV001301068 rs2050478920	964	A>missing		No	ClinVar dbSNP
CA300910200 rs868105527	964	A>V		No	ClinGen Ensembl
rs780305583 CA8976073	965	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	968	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402564378 rs1209581955	968	A>V		No	ClinGen gnomAD
CA402564383 rs1434566598	969	Q>E		No	ClinGen gnomAD
rs1188324271 CA402564413	970	G>E		No	ClinGen gnomAD

1 associated diseases with Q96PU5

[MIM: 617201]: Periventricular nodular heterotopia 7 (PVNH7)

A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. {ECO:0000269|PubMed:27694961}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. {ECO:0000269|PubMed:27694961}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q96PU5

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	15 - 135	IPR005225

Functions

		Description
EC Number	2.3.2.26	Aminoacyltransferases
Subcellular Localization	Cytoplasm Golgi apparatus Endosome, multivesicular body	May be recruited to exosomes by NDFIP1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
multivesicular body	A type of endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

7 GO annotations of molecular function

Name	Definition
potassium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a potassium channel.
potassium channel regulator activity	Binds to and modulates the activity of a potassium channel.
sodium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a sodium channel.
sodium channel regulator activity	Binds to and modulates the activity of a sodium channel.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

23 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
ion transmembrane transport	A process in which an ion is transported across a membrane.
negative regulation of potassium ion transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transport.
negative regulation of potassium ion transmembrane transporter activity	Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transporter activity.
negative regulation of protein localization to cell surface	Any process that stops, prevents, or reduces the frequency, rate or extent of protein localization to the cell surface.
negative regulation of sodium ion transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transport.
negative regulation of sodium ion transmembrane transporter activity	Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transporter activity.
positive regulation of caveolin-mediated endocytosis	Any process that activates or increases the frequency, rate or extent of caveolin-mediated endocytosis.
positive regulation of dendrite extension	Any process that activates or increases the frequency, rate or extent of dendrite extension.
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 K48-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of dendrite morphogenesis	Any process that modulates the frequency, rate or extent of dendrite morphogenesis.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
regulation of membrane depolarization	Any process that modulates the rate, frequency or extent of membrane depolarization. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
regulation of membrane repolarization	Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential, usually from positive to negative.
regulation of potassium ion transmembrane transporter activity	Any process that modulates the frequency, rate or extent of potassium ion transmembrane transporter activity.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
regulation of sodium ion transmembrane transport	Any process that modulates the frequency, rate or extent of sodium ion transmembrane transport.
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 a ubiquitin group, or multiple ubiquitin groups, to the protein.
ventricular cardiac muscle cell action potential	An action potential that occurs in a ventricular cardiac muscle cell.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39940	RSP5	E3 ubiquitin-protein ligase RSP5	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9Y0H4	Su(dx)	E3 ubiquitin-protein ligase Su	Drosophila melanogaster (Fruit fly)	SS
Q9V853	Smurf	E3 ubiquitin-protein ligase Smurf1	Drosophila melanogaster (Fruit fly)	SS
O95817	BAG3	BAG family molecular chaperone regulator 3	Homo sapiens (Human)	PR
O60861	GAS7	Growth arrest-specific protein 7	Homo sapiens (Human)	PR
Q9HCE7	SMURF1	E3 ubiquitin-protein ligase SMURF1	Homo sapiens (Human)	PR
Q9HAU4	SMURF2	E3 ubiquitin-protein ligase SMURF2	Homo sapiens (Human)	EV
Q9H0M0	WWP1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Homo sapiens (Human)	EV
Q96J02	ITCH	E3 ubiquitin-protein ligase Itchy homolog	Homo sapiens (Human)	EV
O00308	WWP2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Homo sapiens (Human)	EV
P46934	NEDD4	E3 ubiquitin-protein ligase NEDD4	Homo sapiens (Human)	EV
Q8IYU2	HACE1	E3 ubiquitin-protein ligase HACE1	Homo sapiens (Human)	EV
P46935	Nedd4	E3 ubiquitin-protein ligase NEDD4	Mus musculus (Mouse)	PR
Q9CUN6	Smurf1	E3 ubiquitin-protein ligase SMURF1	Mus musculus (Mouse)	PR
A2A5Z6	Smurf2	E3 ubiquitin-protein ligase SMURF2	Mus musculus (Mouse)	SS
Q8BZZ3	Wwp1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Mus musculus (Mouse)	SS
Q60780	Gas7	Growth arrest-specific protein 7	Mus musculus (Mouse)	PR
Q8C863	Itch	E3 ubiquitin-protein ligase Itchy	Mus musculus (Mouse)	EV
Q9DBH0	Wwp2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Mus musculus (Mouse)	SS
Q8CFI0	Nedd4l	E3 ubiquitin-protein ligase NEDD4-like	Mus musculus (Mouse)	PR
Q62940	Nedd4	E3 ubiquitin-protein ligase NEDD4	Rattus norvegicus (Rat)	PR
Q9N2Z7	wwp-1	E3 ubiquitin-protein ligase wwp-1	Caenorhabditis elegans	SS
A9JRZ0	smurf2	E3 ubiquitin-protein ligase SMURF2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MATGLGEPVY	GLSEDEGESR	ILRVKVVSGI	DLAKKDIFGA	SDPYVKLSLY	VADENRELAL
70	80	90	100	110	120
VQTKTIKKTL	NPKWNEEFYF	RVNPSNHRLL	FEVFDENRLT	RDDFLGQVDV	PLSHLPTEDP
130	140	150	160	170	180
TMERPYTFKD	FLLRPRSHKS	RVKGFLRLKM	AYMPKNGGQD	EENSDQRDDM	EHGWEVVDSN
190	200	210	220	230	240
DSASQHQEEL	PPPPLPPGWE	EKVDNLGRTY	YVNHNNRTTQ	WHRPSLMDVS	SESDNNIRQI
250	260	270	280	290	300
NQEAAHRRFR	SRRHISEDLE	PEPSEGGDVP	EPWETISEEV	NIAGDSLGLA	LPPPPASPGS
310	320	330	340	350	360
RTSPQELSEE	LSRRLQITPD	SNGEQFSSLI	QREPSSRLRS	CSVTDAVAEQ	GHLPPPSAPA
370	380	390	400	410	420
GRARSSTVTG	GEEPTPSVAY	VHTTPGLPSG	WEERKDAKGR	TYYVNHNNRT	TTWTRPIMQL
430	440	450	460	470	480
AEDGASGSAT	NSNNHLIEPQ	IRRPRSLSSP	TVTLSAPLEG	AKDSPVRRAV	KDTLSNPQSP
490	500	510	520	530	540
QPSPYNSPKP	QHKVTQSFLP	PGWEMRIAPN	GRPFFIDHNT	KTTTWEDPRL	KFPVHMRSKT
550	560	570	580	590	600
SLNPNDLGPL	PPGWEERIHL	DGRTFYIDHN	SKITQWEDPR	LQNPAITGPA	VPYSREFKQK
610	620	630	640	650	660
YDYFRKKLKK	PADIPNRFEM	KLHRNNIFEE	SYRRIMSVKR	PDVLKARLWI	EFESEKGLDY
670	680	690	700	710	720
GGVAREWFFL	LSKEMFNPYY	GLFEYSATDN	YTLQINPNSG	LCNEDHLSYF	TFIGRVAGLA
730	740	750	760	770	780
VFHGKLLDGF	FIRPFYKMML	GKQITLNDME	SVDSEYYNSL	KWILENDPTE	LDLMFCIDEE
790	800	810	820	830	840
NFGQTYQVDL	KPNGSEIMVT	NENKREYIDL	VIQWRFVNRV	QKQMNAFLEG	FTELLPIDLI
850	860	870	880	890	900
KIFDENELEL	LMCGLGDVDV	NDWRQHSIYK	NGYCPNHPVI	QWFWKAVLLM	DAEKRIRLLQ
910	920	930	940	950	960
FVTGTSRVPM	NGFAELYGSN	GPQLFTIEQW	GSPEKLPRAH	TCFNRLDLPP	YETFEDLREK
970
LLMAVENAQG	FEGVD