AiPD: Autoinhibited Protein Database

Q5VT40

Gene name	FAM78B
Protein name	Protein FAM78B
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:149297
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

184-261 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

184-261 (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 Q5VT40

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VT40-F1	Predicted				AlphaFoldDB

202 variants for Q5VT40

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA343479352 rs1373480020	3	C>S		No	ClinGen gnomAD
CA343479338 rs1307924765	4	I>M		No	ClinGen gnomAD
rs1443863777 CA343479320	7	I>L		No	ClinGen gnomAD
CA32276345 rs995492008	7	I>T		No	ClinGen TOPMed
CA1222274 rs763392174	9	C>F		No	ClinGen ExAC TOPMed gnomAD
CA343479306 rs763392174	9	C>S		No	ClinGen ExAC TOPMed gnomAD
rs763392174 CA1222273	9	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA32276343 rs1025861064	10	K>N		No	ClinGen Ensembl
rs1357761559 CA343479290	12	R>G		No	ClinGen gnomAD
rs1332428742 CA343479288	12	R>Q		No	ClinGen gnomAD
CA1222271 rs765631911	13	I>L		No	ClinGen ExAC gnomAD
CA32276342 rs867828716	14	R>L		No	ClinGen gnomAD
CA343479277 rs867828716	14	R>Q		No	ClinGen gnomAD
TCGA novel	14	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939948743 CA32276341	15	R>L		No	ClinGen TOPMed
rs1156949535 CA343479268	16	E>*		No	ClinGen gnomAD
rs1244967613 CA343479248	18	I>M		No	ClinGen gnomAD
CA1222268 rs771748940	19	V>L		No	ClinGen ExAC gnomAD
COSM898966 CA343479247 rs771748940	19	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA32276340 rs533556825	20	V>M		No	ClinGen gnomAD
CA343479229 rs1405666289	22	D>H		No	ClinGen gnomAD
TCGA novel	23	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343479214 rs1317155688	24	C>R		No	ClinGen gnomAD
rs1175572021 CA343479208	24	C>W		No	ClinGen TOPMed
CA1222265 rs770431583	29	Q>R		No	ClinGen ExAC gnomAD
rs749111334 CA1222264	30	C>R		No	ClinGen ExAC TOPMed gnomAD
CA343479120 rs1291018569	37	T>I		No	ClinGen TOPMed gnomAD
rs1291018569 CA343479121	37	T>S		No	ClinGen TOPMed gnomAD
rs1485110257 CA343479112	39	P>A		No	ClinGen TOPMed gnomAD
CA32276339 rs1029722913	39	P>L		No	ClinGen Ensembl
rs1485110257 CA343479111	39	P>S		No	ClinGen TOPMed gnomAD
CA1222262 rs769561034	40	I>S		No	ClinGen ExAC gnomAD
rs748127757 CA1222261	43	R>C		No	ClinGen ExAC gnomAD
rs998169980 CA343479080	44	Y>*		No	ClinGen gnomAD
TCGA novel	45	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222260 rs781073575	45	K>Q		No	ClinGen ExAC gnomAD
rs1423207329 CA343479075	45	K>R		No	ClinGen gnomAD
rs1411460712 CA343479069	46	T>N		No	ClinGen gnomAD
CA32276336 rs958716683	46	T>P		No	ClinGen TOPMed gnomAD
CA343479070 rs958716683	46	T>S		No	ClinGen TOPMed gnomAD
CA1222258 rs751539953	47	P>S		No	ClinGen ExAC gnomAD
TCGA novel	48	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758617157 CA1222255	50	K>R		No	ClinGen ExAC gnomAD
CA343479038 rs1571220785 COSM1499419	51	A>T	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs750647584 CA1222254	51	A>V		No	ClinGen ExAC TOPMed gnomAD
CA343479033 rs1388612745	52	S>A		No	ClinGen Ensembl
CA1222253 rs765745983	54	R>C		No	ClinGen ExAC gnomAD
rs1344714719 COSM898965 CA343479018	54	R>H	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	56	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	57	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343479003 rs1219019175	57	M>L		No	ClinGen TOPMed
CA1222252 rs757666335	58	P>S		No	ClinGen ExAC TOPMed gnomAD
CA343478986 rs1340287497	59	P>L		No	ClinGen gnomAD
TCGA novel	60	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA32276334 rs1034064645	60	I>T		No	ClinGen gnomAD
rs764646808 CA1222250	60	I>V		No	ClinGen ExAC gnomAD
CA343478976 rs1305718590	61	P>L		No	ClinGen TOPMed
rs765905771 CA343478972	62	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1250869552 CA343478969	62	R>L		No	ClinGen TOPMed
rs765905771 CA1222247	62	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1041596653 CA32276333	63	H>Q		No	ClinGen Ensembl
rs1172428923 CA343478950	65	T>S		No	ClinGen gnomAD
rs1571220703 CA343478933	67	V>G		No	ClinGen Ensembl
rs1571220697 CA343478927	68	V>E		No	ClinGen Ensembl
rs202203172 CA32276332	72	Q>R		No	ClinGen Ensembl
rs946393954 CA343478891	73	A>G		No	ClinGen TOPMed gnomAD
rs946393954 CA32276331	73	A>V		No	ClinGen TOPMed gnomAD
CA1222245 rs772894702	74	C>S		No	ClinGen ExAC gnomAD
rs1224469111 CA343478825	82	T>A		No	ClinGen TOPMed gnomAD
rs1253659081 CA343478822	82	T>N		No	ClinGen gnomAD
rs1317738087 CA343478816	83	Y>C		No	ClinGen gnomAD
CA343478808 rs1375627711	84	S>N		No	ClinGen TOPMed gnomAD
rs1557925484 CA343478798	85	D>E		No	ClinGen Ensembl
rs375253617 CA1222241	86	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1222199 rs759693482	88	M>I		No	ClinGen ExAC gnomAD
rs200433411 CA1222239	88	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200433411 CA343478785	88	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA343478724 rs1286509346	92	E>D		No	ClinGen TOPMed
CA343478714 rs1358177109	94	P>H		No	ClinGen gnomAD
rs1358177109 CA343478713	94	P>R		No	ClinGen gnomAD
TCGA novel	95	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222198 rs774638559	95	D>N		No	ClinGen ExAC gnomAD
TCGA novel	95	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405370403 COSM317336 CA343478695	97	R>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs935450452 CA32265034	101	V>L		No	ClinGen Ensembl
CA1222196 rs749568372	102	K>E		No	ClinGen ExAC gnomAD
CA343478650 rs201590163	104	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1222195 rs201590163	104	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	110	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222410193 CA343478585	113	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1222192 rs781558297	114	W>*		No	ClinGen ExAC gnomAD
TCGA novel	114	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202654079 CA343478563	116	G>E		No	ClinGen TOPMed
rs948048648 CA32265033	116	G>R		No	ClinGen TOPMed
CA1222190 rs752050976	119	T>I		No	ClinGen ExAC gnomAD
rs753521023 CA1222187	123	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753521023 CA1222188	123	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	124	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752469559 CA1222184	125	V>A		No	ClinGen ExAC gnomAD
CA1222185 rs192214368	125	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1222183 rs767209838	128	T>S		No	ClinGen ExAC gnomAD
rs1170428313 CA343478487	129	N>S		No	ClinGen TOPMed gnomAD
CA343478473 rs1431808395	131	I>F		No	ClinGen gnomAD
COSM3710395 CA343478463 rs1477761824	132	S>F	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	132	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759603534 CA1222182	133	R>G		No	ClinGen ExAC gnomAD
rs774405668 CA1222181	133	R>K		No	ClinGen ExAC gnomAD
TCGA novel	134	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM123035 rs368578294 CA1222179	136	V>I	upper_aerodigestive_tract ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA32265031 rs992153172	137	S>G		No	ClinGen TOPMed
rs1315818995 CA343478402	141	N>S		No	ClinGen gnomAD
CA32265030 rs867702228	144	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA343478376 rs1280363590	145	S>G		No	ClinGen gnomAD
rs907991200 CA32265029	145	S>N		No	ClinGen TOPMed
CA343478358 rs1219418533	148	W>R		No	ClinGen gnomAD
CA343478343 rs1272600075	150	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	151	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448276353 CA343478327	152	V>A		No	ClinGen gnomAD
rs781664868 CA1222175	153	S>N		No	ClinGen ExAC gnomAD
TCGA novel	155	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222174 rs116091195	156	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343478295 rs1344835578	157	V>M		No	ClinGen TOPMed
rs1571130384 CA343478288	158	P>A		No	ClinGen Ensembl
rs1414141238 CA343478274	160	L>P		No	ClinGen gnomAD
rs933478249 CA32265027	162	R>S		No	ClinGen TOPMed
rs756782790 CA1222171	164	K>N		No	ClinGen ExAC gnomAD
CA343478235 rs1418206307	166	D>G		No	ClinGen gnomAD
rs759808562 CA32265025	170	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1571130313 CA343478202	171	T>P		No	ClinGen Ensembl
TCGA novel	172	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	174	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222169 rs777295242	174	V>L		No	ClinGen ExAC gnomAD
CA1222168 rs755862495	176	M>V		No	ClinGen ExAC gnomAD
rs1488105291 CA343478159	177	N>S		No	ClinGen TOPMed
rs1239022524 CA343478155	178	T>A		No	ClinGen gnomAD
CA343478148 rs1210505582	179	T>A		No	ClinGen gnomAD
rs183423307 CA1222166	183	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1222167 rs562062524	183	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs189537822 CA1222165	184	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201621386 CA32265022	187	Q>P		No	ClinGen Ensembl
TCGA novel	188	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222163 rs149784255	189	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1425578633 CA343478074	190	K>R		No	ClinGen TOPMed
CA343478040 rs370452969	194	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	196	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222160 rs765220169	199	V>A		No	ClinGen ExAC gnomAD
TCGA novel	201	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1222155 rs775991053	208	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM239808 CA1222156 rs747327778	208	R>W	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1222154 rs772500531	209	A>T		No	ClinGen ExAC gnomAD
CA32265020 rs989140912	209	A>V		No	ClinGen TOPMed
CA1222152 rs142873273	210	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1222153 rs202158388	210	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343477929 rs1571130066	212	V>G		No	ClinGen Ensembl
CA1222151 rs755556119	213	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1488389589 CA343477911	215	T>I		No	ClinGen TOPMed gnomAD
rs1488389589 CA343477913	215	T>N		No	ClinGen TOPMed gnomAD
CA32265018 rs201938645	218	E>G		No	ClinGen 1000Genomes
rs1284711550 CA343477894	218	E>K		No	ClinGen gnomAD
rs1320662743 CA343477886	219	Q>E		No	ClinGen TOPMed
CA343477879 rs1216329055	220	P>T		No	ClinGen TOPMed
CA343477871 rs146248661	221	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1222149 rs146248661	221	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1222150 rs747871153	221	R>W		No	ClinGen ExAC gnomAD
TCGA novel	224	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1335935 rs754839641 CA1222148	225	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA343477849 rs1314055154	225	R>W		No	ClinGen gnomAD
rs751338301 COSM530460 CA1222147	226	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1377399168 CA343477842	226	M>T		No	ClinGen gnomAD
CA1222146 rs766276511	227	E>K		No	ClinGen ExAC gnomAD
rs370407096 CA1222145	228	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750310422 CA1222144	229	I>M		No	ClinGen ExAC gnomAD
TCGA novel	229	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935565061 CA32265017	229	I>V		No	ClinGen TOPMed gnomAD
rs138775815 CA343477820	230	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs138775815 CA1222143	230	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1222141 rs144142558	231	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs763715884	231	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343477816 COSM1335934 rs144142558	231	P>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1222142 rs144142558	231	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763715884	232	N>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs764245346 CA1222139	233	A>V		No	ClinGen ExAC gnomAD
CA1222138 rs760385185	235	V>A		No	ClinGen ExAC gnomAD
CA32265015 rs760385185	235	V>E		No	ClinGen ExAC gnomAD
rs979581758 CA32265014	237	P>S		No	ClinGen Ensembl
CA1222137 rs137906062	240	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195512740 CA343477761	240	N>Y		No	ClinGen gnomAD
rs1225545830 CA343477734	244	V>I		No	ClinGen gnomAD
rs1184323456 CA343477716	246	M>I		No	ClinGen gnomAD
TCGA novel	248	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343477692 rs1489165672	249	P>L		No	ClinGen gnomAD
rs772411086 CA1222136	250	K>R		No	ClinGen ExAC gnomAD
CA343477683 rs138713518	251	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138713518 CA1222134	251	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1222135 rs746434862	251	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	253	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263521428 CA343477667	254	P>H		No	ClinGen TOPMed
rs781002752 CA1222131	254	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	259	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439990852 CA343477619	262	K>Q		No	ClinGen gnomAD

No associated diseases with Q5VT40

No regional properties for Q5VT40

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5VT40

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BQN5	Fam78b	Protein FAM78B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGCIQSITCK	ARIRRENIVV	YDVCATIDQC	PTRIEETSPI	VLRYKTPYFK	ASARVVMPPI
70	80	90	100	110	120
PRHETWVVGW	IQACNQMEFF	NTYSDLGMSS	WELPDLREGR	VKAISDSDGV	SYPWYGNTTE
130	140	150	160	170	180
TVTLVGPTNK	ISRFSVSMND	NFYPSVTWAV	PVSDSNVPLL	TRIKRDQSFT	TWLVAMNTTT
190	200	210	220	230	240
KEKIILQTIK	WRMRVDIEVD	PLQLLGQRAR	LVGRTQQEQP	RILSRMEPIP	PNALVKPNAN
250	260
DAQVLMWRPK	RGPPLVVIPP	K