AiPD: Autoinhibited Protein Database

Q8NHY5

Gene name	HUS1B
Protein name	Checkpoint protein HUS1B
Names	hHUS1B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:135458
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

57-151 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

57-151 (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 Q8NHY5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NHY5-F1	Predicted				AlphaFoldDB

345 variants for Q8NHY5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199901808 CA3614235	2	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3614232 rs759075877	5	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759075877 COSM1166695 CA3614233	5	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3614231 rs773855113	6	K>R		No	ClinGen ExAC gnomAD
TCGA novel	7	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770495251 CA3614229	8	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs28642027 CA133336324	8	T>P		No	ClinGen Ensembl
rs28642027 CA133336308	8	T>S		No	ClinGen Ensembl
CA362556725 rs141317068	9	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3614228 rs141317068	9	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374780575 CA3614223	12	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780110730 CA3614221	13	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3614217 rs147083849	16	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754159463 CA3614216	16	F>L		No	ClinGen ExAC TOPMed gnomAD
CA362556676 rs764599314	17	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3614215 rs764599314	17	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3614213 rs201311004	18	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3614214 rs756578192	18	H>N		No	ClinGen ExAC TOPMed gnomAD
rs201311004 CA3614212	18	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201555162 CA362556668	18	H>Q		No	ClinGen TOPMed
rs756578192 CA362556670	18	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs140630904 CA3614208	21	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140630904 CA3614209	21	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	21	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776508514 CA3614206	22	T>I		No	ClinGen ExAC gnomAD
CA3614204 rs151331596	23	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3614203 COSM1081034 rs151331596	23	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA362556635 rs1318702444	24	A>G		No	ClinGen gnomAD
CA362556621 rs779135625	27	A>P		No	ClinGen ExAC TOPMed gnomAD
rs779135625 CA3614200	27	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	27	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438331665 CA362556606	29	V>F		No	ClinGen gnomAD
rs1581641292 CA362556603	29	V>G		No	ClinGen Ensembl
rs1357845151 CA362556598	30	C>Y		No	ClinGen TOPMed
CA362556593 rs1454741147	31	V>L		No	ClinGen TOPMed gnomAD
CA362556594 rs1454741147	31	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1347409924 CA362556580	33	R>C		No	ClinGen TOPMed gnomAD
rs372072865 CA3614197	33	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs753225884 CA3614195 CA3614196	34	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753225884 CA362556577	34	V>M		No	ClinGen ExAC gnomAD
rs149140167 CA362556237	35	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs149140167 CA3614194	35	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3614193 rs757961681	35	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362556233 rs757961681	35	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3614191 rs764998131	36	P>S		No	ClinGen ExAC gnomAD
CA3614190 rs761487186	37	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1581641166 CA362556214	37	D>G		No	ClinGen Ensembl
rs1283712688 CA362556219	37	D>Y		No	ClinGen gnomAD
CA133336072 rs199830637	38	S>R		No	ClinGen 1000Genomes
rs1416537313 CA362556188	39	L>P		No	ClinGen TOPMed gnomAD
rs1305436973 CA362556190	39	L>V		No	ClinGen gnomAD
CA3614188 rs189697932	40	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133336043 rs1044087110	41	F>C		No	ClinGen Ensembl
rs775466283 CA3614187	41	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1044087110 CA133336050	41	F>Y		No	ClinGen Ensembl
rs771862523 CA3614185	42	G>S		No	ClinGen ExAC gnomAD
CA362556164 rs1337786826	43	P>L		No	ClinGen TOPMed gnomAD
CA362556165 rs1337786826	43	P>R		No	ClinGen TOPMed gnomAD
CA3614183 rs745980576	44	A>P		No	ClinGen ExAC gnomAD
CA3614182 rs774349576	45	G>A		No	ClinGen ExAC gnomAD
CA133336034 rs1020167801	45	G>R		No	ClinGen TOPMed gnomAD
CA362556157 rs1020167801	45	G>S		No	ClinGen TOPMed gnomAD
CA362556147 rs749499481	47	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3614180 rs749499481	47	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3614179 COSM3777804 rs778160260	48	G>R	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3614178 rs756473752	49	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756473752 CA133336003	49	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1346837331 CA362556131	50	H>R		No	ClinGen TOPMed
CA3614176 rs200379143	50	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1052894106 CA133335994	51	E>K		No	ClinGen TOPMed gnomAD
rs1052894106 CA362556127	51	E>Q		No	ClinGen TOPMed gnomAD
CA362556114 rs1344070402	53	R>G		No	ClinGen gnomAD
rs1024925567 CA133335992	53	R>K		No	ClinGen TOPMed
rs1251463459 CA362556102	55	W>R		No	ClinGen gnomAD
rs781735005 CA3614173	56	C>S		No	ClinGen ExAC gnomAD
TCGA novel	58	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867882133 CA362556073	59	R>G		No	ClinGen gnomAD
rs1277098746 CA362556070	59	R>L		No	ClinGen TOPMed gnomAD
CA362556072 rs1277098746	59	R>Q		No	ClinGen TOPMed gnomAD
rs867882133 CA133335974	59	R>W		No	ClinGen gnomAD
rs755385721 CA3614172	60	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1394612855 CA362556056	62	A>T		No	ClinGen TOPMed gnomAD
CA362556040 rs1394897935	64	Q>*		No	ClinGen TOPMed
rs1433221518 CA362556027	65	Q>H		No	ClinGen TOPMed
rs898043016 CA362556015	67	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs898043016 CA133335950	67	R>L		No	ClinGen TOPMed gnomAD
rs898043016 CA362556014	67	R>P		No	ClinGen TOPMed gnomAD
rs923156375 CA133335924	68	M>I		No	ClinGen TOPMed gnomAD
CA3614169 rs375917812	68	M>K		No	ClinGen ESP ExAC gnomAD
rs375917812 CA3614168	68	M>T		No	ClinGen ESP ExAC gnomAD
CA133335918 rs976289897	69	E>D		No	ClinGen gnomAD
rs753514689 CA3614167	71	V>I		No	ClinGen ExAC gnomAD
CA362555984 rs1185333670	72	S>L		No	ClinGen gnomAD
rs1197182948 CA362555974	74	D>N		No	ClinGen gnomAD
CA3614160 rs770976798	76	D>E		No	ClinGen ExAC gnomAD
rs139606835 CA3614161	76	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371301949 CA3614164	76	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371301949 CA3614162	76	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs371301949 CA3614163	76	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1243323093 CA362555931	80	L>R		No	ClinGen gnomAD
CA133335863 rs1050622443	81	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA362555915 rs952087853	83	T>K		No	ClinGen gnomAD
rs952087853 CA133335859	83	T>R		No	ClinGen gnomAD
CA3614156 rs146735242	84	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3614158 rs773517763	84	A>S		No	ClinGen ExAC gnomAD
CA362555913 rs773517763	84	A>T		No	ClinGen ExAC gnomAD
CA3614157 rs146735242	84	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781347731 CA3614155	86	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747503042 CA3614153	88	S>Y		No	ClinGen ExAC gnomAD
CA133335832 rs867786897	89	R>Q		No	ClinGen Ensembl
rs756796060 CA3614151	89	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777501937 CA3614149	90	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1287209683 CA362555872	91	A>V		No	ClinGen gnomAD
rs1208544950 CA362555854	94	A>S		No	ClinGen gnomAD
CA3614148 rs755663682	95	A>G		No	ClinGen ExAC gnomAD
rs1356321944 CA362555850	95	A>T		No	ClinGen gnomAD
rs759519295 CA362555842	96	G>A		No	ClinGen ExAC TOPMed gnomAD
rs759519295 CA3614145	96	G>D		No	ClinGen ExAC TOPMed gnomAD
rs759519295 CA362555841	96	G>V		No	ClinGen ExAC TOPMed gnomAD
rs766267576 CA362555836	97	A>E		No	ClinGen ExAC TOPMed gnomAD
CA362555840 rs1441993652	97	A>T		No	ClinGen gnomAD
rs766267576 CA3614143	97	A>V		No	ClinGen ExAC TOPMed gnomAD
CA362555831 rs1384877284	98	S>F		No	ClinGen TOPMed
rs773110049 CA3614141	98	S>P		No	ClinGen ExAC gnomAD
rs1160417759 CA362555825	99	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769115820 CA3614137	100	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs769115820 CA133335728	100	L>R		No	ClinGen ExAC TOPMed gnomAD
rs139552685 CA3614138	100	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747556100 CA362555815	101	K>N		No	ClinGen ExAC TOPMed gnomAD
rs772657334 CA3614134	103	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs1285483277 CA362555799	104	L>P		No	ClinGen gnomAD
CA3614132 rs150591641	105	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3614130 rs766029482	106	H>R		No	ClinGen ExAC gnomAD
CA362555792 rs1289403644	106	H>Y		No	ClinGen gnomAD
CA133335684 rs892829173	107	K>N		No	ClinGen gnomAD
rs141762626 CA3614128	108	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141762626 CA3614127	108	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747735316 CA3614129	108	R>S		No	ClinGen ExAC gnomAD
TCGA novel	109	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327109816 CA362555771	109	R>L		No	ClinGen gnomAD
CA3614126 rs539446508	109	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754357254 CA3614125	110	P>H		No	ClinGen ExAC TOPMed gnomAD
rs754357254 CA362555766	110	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1417856460 CA362555760	111	S>F		No	ClinGen TOPMed gnomAD
CA3614124 rs758268606	113	T>A		No	ClinGen ExAC gnomAD
CA133335630 rs901552629	113	T>M		No	ClinGen TOPMed gnomAD
rs1190273257 CA362555738	115	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM387627 rs202166658 CA3614121	119	V>L	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA362555708 rs1264773686	120	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3614119 rs764370724	121	S>F		No	ClinGen ExAC TOPMed gnomAD
rs772710009 CA3614117	123	G>C		No	ClinGen ExAC gnomAD
CA133335587 rs370107712	123	G>D		No	ClinGen Ensembl
CA3614116 rs772710009	123	G>S		No	ClinGen ExAC gnomAD
CA3614114 rs373567821	124	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA133335566 rs910384721	124	R>H		No	ClinGen TOPMed gnomAD
CA362555692 rs910384721	124	R>P		No	ClinGen TOPMed gnomAD
CA362555694 rs373567821	124	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA133335561 rs1054812573	125	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	125	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769156118 CA3614113	125	A>V		No	ClinGen ExAC gnomAD
rs747654982 CA3614112	126	R>C		No	ClinGen ExAC TOPMed gnomAD
CA362555685 rs747654982	126	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3614111 rs780848945	126	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754570913 CA362555678	127	S>I		No	ClinGen ExAC TOPMed gnomAD
rs754570913 CA3614108	127	S>N		No	ClinGen ExAC TOPMed gnomAD
CA362555675 rs1166501299	128	V>M		No	ClinGen TOPMed
CA362555665 rs1581640011	129	V>G		No	ClinGen Ensembl
CA362555668 CA3614106 rs370937142	129	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370937142 CA362555669	129	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1766848 VAR_031206 CA3614105	130	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3614104 rs750302587	131	D>N		No	ClinGen ExAC gnomAD
COSM1546981 CA362555656 rs750302587	131	D>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	134	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362555637 rs1182955965	134	V>M		No	ClinGen gnomAD
rs1484409532 CA362555629	135	R>Q		No	ClinGen gnomAD
rs76953401 CA3614102 RCV000975098	136	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753905386 CA3614101	138	P>R		No	ClinGen ExAC gnomAD
rs1260260630 CA362555612	139	R>G		No	ClinGen gnomAD
CA362555611 rs1260260630	139	R>W		No	ClinGen gnomAD
CA3614100 rs377160217	141	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	142	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362555592 rs1313706271	142	W>R		No	ClinGen TOPMed
rs372893836 CA3614097	143	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760912082 CA3614098	143	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3614095 rs760131076	144	D>G		No	ClinGen ExAC gnomAD
CA362555581 rs1302091017	144	D>H		No	ClinGen gnomAD
CA362555562 rs1277300506	146	L>R		No	ClinGen TOPMed
rs774752902 CA3614093	147	P>A		No	ClinGen ExAC TOPMed gnomAD
rs771421496 CA3614092	147	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771421496 CA133335435	147	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA362555560 rs774752902	147	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776054397 CA3614090	148	P>L		No	ClinGen ExAC gnomAD
rs747627386 CA3614091	148	P>S		No	ClinGen ExAC gnomAD
CA3614089 rs768367924	149	S>N		No	ClinGen ExAC TOPMed gnomAD
CA133335415 rs966506824	149	S>R		No	ClinGen Ensembl
rs1412043926 CA362555547	150	L>V		No	ClinGen gnomAD
rs779869323 CA3614087	151	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362555531 rs1266179591	153	S>P		No	ClinGen gnomAD
CA362555526 rs1319907572	154	D>N		No	ClinGen TOPMed gnomAD
CA3614080 rs777995048	155	A>G		No	ClinGen ExAC gnomAD
CA362555510 rs1331633461	156	S>N		No	ClinGen Ensembl
rs1391833617 CA362555504	157	I>V		No	ClinGen TOPMed
rs138339347 CA3614077	158	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	158	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3614075 rs759841851	158	R>L		No	ClinGen ExAC gnomAD
rs759841851 CA3614076	158	R>P		No	ClinGen ExAC gnomAD
rs138339347 CA3614078	158	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751897572 CA3614074	159	L>M		No	ClinGen ExAC gnomAD
CA3614073 rs773687295	160	P>L		No	ClinGen ExAC TOPMed gnomAD
CA133335301 rs773687295	160	P>R		No	ClinGen ExAC TOPMed gnomAD
rs201176240 CA3614071	161	R>C	Variant assessed as Somatic; 0.0001433 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201176240 CA362555487	161	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3614070 rs776185878	161	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1420630800 CA362555481	162	W>*		No	ClinGen TOPMed gnomAD
CA362555479 rs1420630800	162	W>L		No	ClinGen TOPMed gnomAD
rs1164692104 CA362555483	162	W>R		No	ClinGen gnomAD
CA133335236 rs996309309	164	T>M		No	ClinGen TOPMed
CA133335189 rs1040569188	167	S>N		No	ClinGen TOPMed
rs1268120503 CA362555440	168	I>T		No	ClinGen gnomAD
rs768128633 CA3614068	169	V>L		No	ClinGen ExAC gnomAD
TCGA novel	169	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217269064 CA362555428	170	E>G		No	ClinGen gnomAD
CA3614067 rs760357076	171	R>T		No	ClinGen ExAC gnomAD
rs199941224 CA133335177	172	M>K		No	ClinGen TOPMed
CA3614062 rs771703594	173	A>G		No	ClinGen ExAC gnomAD
rs771703594 CA3614063	173	A>V		No	ClinGen ExAC gnomAD
rs1302990849 CA362555405	174	N>D		No	ClinGen gnomAD
rs1581639380 CA362555394	175	V>G		No	ClinGen Ensembl
CA3614059 rs770840390	175	V>M		No	ClinGen ExAC gnomAD
rs150422154 RCV000946909 CA3614057	177	S>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs183178644 CA3614056	177	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1449847628 CA362555376	178	H>L		No	ClinGen TOPMed
CA362555375 rs201200803	178	H>Q		No	ClinGen TOPMed
rs138864432 CA3614055	179	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138864432 CA3614054	179	V>M	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3614053 rs755164082	181	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3614048 rs750894700	185	L>F		No	ClinGen ExAC gnomAD
rs750894700 CA3614049	185	L>V		No	ClinGen ExAC gnomAD
CA362555331 rs1344738808	186	S>G		No	ClinGen TOPMed
rs1194299038 CA362555325	187	G>S		No	ClinGen gnomAD
rs765688249 CA3614047	187	G>V		No	ClinGen ExAC gnomAD
TCGA novel	188	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362555315 rs1322846669	188	R>S		No	ClinGen TOPMed
CA3614045 rs774921073	189	M>I		No	ClinGen ExAC gnomAD
rs192257165 CA3614046	189	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1477987777 CA362555305	190	T>A		No	ClinGen TOPMed gnomAD
CA133335094 rs866559922	190	T>N		No	ClinGen Ensembl
CA362555295 rs1345454364	192	S>G		No	ClinGen gnomAD
CA3614044 rs368806371	192	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150271447 CA362555290	192	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA362555282 rs1220361623	194	E>K		No	ClinGen TOPMed
rs1220361623 CA362555281	194	E>Q		No	ClinGen TOPMed
rs1489397668 CA362555269	195	T>M		No	ClinGen TOPMed
CA362555270 rs1489397668	195	T>R		No	ClinGen TOPMed
CA362555264 rs1581639078	196	E>G		No	ClinGen Ensembl
rs749052343 CA3614040	197	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3614041 rs199924087	197	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA133335083 rs375697927	198	V>A		No	ClinGen ESP
CA362555252 rs375697927	198	V>G		No	ClinGen ESP
CA362555254 rs1342883534	198	V>L		No	ClinGen gnomAD
rs866794959 CA133335051	199	S>F		No	ClinGen Ensembl
CA3614039 rs370776953	199	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs576529864 CA3614038	201	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
VAR_031207 CA3614037 rs17136239	201	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362555227 rs1304799633	202	S>R		No	ClinGen gnomAD
CA362555230 rs1191725479	202	S>T		No	ClinGen TOPMed
CA362555224 rs1377112277	203	Y>C		No	ClinGen gnomAD
CA3614036 rs540375906	203	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs747236281 CA3614034	204	F>S		No	ClinGen ExAC gnomAD
CA362555210 rs1192866406	205	K>*		No	ClinGen gnomAD
rs1442774155 CA362555203	206	N>D		No	ClinGen gnomAD
CA3614033 rs780318637	207	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1201722148 CA362555173	210	P>L		No	ClinGen gnomAD
rs758789538 COSM597339 CA3614032	210	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA133335015 rs980874837	211	P>H		No	ClinGen Ensembl
rs1482751290 CA362555167	212	Q>K		No	ClinGen TOPMed gnomAD
CA362555162 rs1459607244	212	Q>P		No	ClinGen TOPMed gnomAD
rs750735084 CA3614031	213	S>P		No	ClinGen ExAC gnomAD
rs765743345 CA3614030	214	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757692573 CA3614029	215	V>A		No	ClinGen ExAC gnomAD
rs1437578528 CA362555149	215	V>M		No	ClinGen TOPMed
TCGA novel	218	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370027929 CA133334981	220	N>I		No	ClinGen Ensembl
rs1394490072 CA362555111	221	R>G		No	ClinGen gnomAD
rs201927192 CA3614024	222	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201927192 CA3614025	222	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362555095 rs1332301006	223	L>P		No	ClinGen gnomAD
rs762857124 CA3614022	225	S>T		No	ClinGen ExAC gnomAD
CA3614019 rs777378654	226	M>I		No	ClinGen ExAC TOPMed gnomAD
rs553722551 CA3614020	226	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs377338865 CA3614021	226	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185077525 CA362555071	227	V>L		No	ClinGen gnomAD
CA362555062 rs1238340208	228	Q>R		No	ClinGen gnomAD
CA3614017 rs200216137	230	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776628365 CA3614018	230	R>W		No	ClinGen ExAC gnomAD
CA362555032 rs780341553	233	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3614015 rs780341553	233	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3614014 rs575022583	234	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs746232901 CA3614013	234	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746232901 CA362555027	234	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779243836 CA3614012	235	K>*		No	ClinGen ExAC TOPMed gnomAD
rs779243836 CA362555025	235	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA362555016 rs1170260139	236	L>F		No	ClinGen TOPMed
CA362555013 rs1404009049	236	L>R		No	ClinGen gnomAD
CA3614011 rs757817248	239	F>L		No	ClinGen ExAC gnomAD
rs754347705 CA3614010	240	L>W		No	ClinGen ExAC gnomAD
rs764469644 CA3614009	243	Q>E		No	ClinGen ExAC gnomAD
rs1406048916 CA362554969	243	Q>R		No	ClinGen gnomAD
CA362554964 rs1561978754	244	Q>E		No	ClinGen Ensembl
rs373928600 CA3614007	244	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA362554939 rs1425500741	247	P>R		No	ClinGen TOPMed gnomAD
rs1423699694 CA362554936	248	T>A		No	ClinGen gnomAD
CA3614006 rs766134842	248	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762692763 CA3614005	249	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	250	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3614004 rs773201337	251	L>Q		No	ClinGen ExAC gnomAD
rs773201337 CA362554918	251	L>R		No	ClinGen ExAC gnomAD
TCGA novel	251	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198897799 CA362554910	252	C>W		No	ClinGen gnomAD
rs370485638 CA3614003	253	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581638391 CA362554896	254	I>M		No	ClinGen Ensembl
rs776657842 CA3614001	256	D>H		No	ClinGen ExAC gnomAD
CA3614000 rs373940847	257	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3613999 rs760820587	258	T>A		No	ClinGen ExAC gnomAD
rs1242553903 CA362554865	259	L>F		No	ClinGen gnomAD
CA362554857 rs1207234849	260	L>P		No	ClinGen TOPMed
CA133334780 rs1054538097	261	Q>*		No	ClinGen TOPMed gnomAD
rs1441918262 CA362554849	261	Q>H		No	ClinGen TOPMed
CA133334771 rs999835809	262	L>F		No	ClinGen TOPMed gnomAD
rs1279219845 CA362554839	263	V>A		No	ClinGen gnomAD
CA3613997 rs775362329	264	L>S		No	ClinGen ExAC gnomAD
CA362554826 rs1321494005	265	V>A		No	ClinGen gnomAD
CA362554830 rs1332922918	265	V>L		No	ClinGen gnomAD
rs769241107 CA3613996	266	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3613995 rs140484138	267	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1211554 CA362554811	268	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_025497 rs1211554 CA3613994	268	D>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3613993 rs200619909	269	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3613992 rs749567947	270	S>C		No	ClinGen ExAC gnomAD
CA3613991 rs778357543	272	Q>R		No	ClinGen ExAC gnomAD
rs1478715905 CA362554767	274	F>L		No	ClinGen TOPMed gnomAD
CA362554764 rs1198883512	275	I>V		No	ClinGen gnomAD
CA362554756 rs1244539747	276	P>S		No	ClinGen gnomAD
CA3613990 rs756513048	277	A>V		No	ClinGen ExAC gnomAD

No associated diseases with Q8NHY5

No regional properties for Q8NHY5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8NHY5

Functions

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

3 GO annotations of cellular component

Name	Definition
checkpoint clamp complex	Conserved heterotrimeric complex of PCNA-like proteins that is loaded onto DNA at sites of DNA damage.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
double-strand break repair via homologous recombination	The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
meiotic DNA integrity checkpoint signaling	A signal transduction process that controls cell cycle progression in response to changes in DNA structure by monitoring the integrity of the DNA during meiosis. The DNA integrity checkpoint begins with detection of DNA damage, defects in DNA structure or DNA replication, and ends with signal transduction.
mitotic DNA replication checkpoint signaling	A signal transduction process that contributes to a mitotic DNA replication checkpoint.
mitotic intra-S DNA damage checkpoint signaling	A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression.
nucleotide-excision repair	A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).
telomere maintenance	Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60921	HUS1	Checkpoint protein HUS1	Homo sapiens (Human)	PR
Q8BQY8	Hus1	Checkpoint protein HUS1	Mus musculus (Mouse)	PR
Q8K572	Hus1b	Checkpoint protein HUS1B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKFRAKITGK	GCLELFIHVS	GTVARLAKVC	VLRVRPDSLC	FGPAGSGGLH	EARLWCEVRQ
70	80	90	100	110	120
GAFQQFRMEG	VSEDLDEIHL	ELTAEHLSRA	ARSAAGASSL	KLQLTHKRRP	SLTVAVELVS
130	140	150	160	170	180
SLGRARSVVH	DLPVRVLPRR	VWRDCLPPSL	RASDASIRLP	RWRTLRSIVE	RMANVGSHVL
190	200	210	220	230	240
VEANLSGRMT	LSIETEVVSI	QSYFKNLGNP	PQSAVGVPEN	RDLESMVQVR	VDNRKLLQFL
250	260	270
EGQQIHPTTA	LCNIWDNTLL	QLVLVQEDVS	LQYFIPAL