AiPD: Autoinhibited Protein Database

Q96E29

Gene name	MTERF3 (MTERFD1, CGI-12)
Protein name	Transcription termination factor 3, mitochondrial
Names	Mitochondrial transcription termination factor 3, mTERF3, mTERF domain-containing protein 1, mitochondrial
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51001
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

35-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

35-131 (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

2 structures for Q96E29

Entry ID	Method	Resolution	Chain	Position	Source
3M66	X-ray	160 A	A	148-417	PDB
AF-Q96E29-F1	Predicted				AlphaFoldDB

341 variants for Q96E29

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4816428 rs757722051	2	A>T		No	ClinGen ExAC gnomAD
rs1461357984 CA371751202	4	S>L		No	ClinGen gnomAD
rs754388063 CA4816426	5	A>D		No	ClinGen ExAC gnomAD
CA4816425 rs780884393	6	Q>*		No	ClinGen ExAC gnomAD
CA4816423 rs142623533	8	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1005298643 CA181489554	9	P>S		No	ClinGen TOPMed
CA371751125 rs1221434714	10	R>T		No	ClinGen gnomAD
rs1179402176 CA371751108	11	W>*		No	ClinGen gnomAD
rs1469704673 CA371751084	12	F>L		No	ClinGen gnomAD
rs766159243 CA4816422	15	V>I		No	ClinGen ExAC gnomAD
rs762597663 CA4816421	16	K>Q		No	ClinGen ExAC gnomAD
CA371751027 rs1368992688	17	L>M		No	ClinGen TOPMed gnomAD
rs750198255 CA4816420	19	S>R		No	ClinGen ExAC
rs138131302 CA4816419	20	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs538287402 CA4816417	21	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4816418 rs538287402	21	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs140943797 CA371750972	25	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140943797 CA4816414	25	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA371750961 rs1440861175	27	T>A		No	ClinGen gnomAD
CA4816412 rs746047936	29	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4816411 rs113965668	29	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1406603662 CA371750944	30	F>L		No	ClinGen gnomAD
CA371750942 rs771292484	30	F>S		No	ClinGen ExAC TOPMed gnomAD
CA4816410 rs771292484	30	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs749856275 CA4816409	31	T>I		No	ClinGen ExAC gnomAD
rs749856275 CA371750935	31	T>S		No	ClinGen ExAC gnomAD
CA4816408 rs151046309	32	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371750910 rs1164977102	35	R>S		No	ClinGen TOPMed
CA371750900 rs1243706949	37	L>Q		No	ClinGen TOPMed gnomAD
rs746520053 CA4816405	38	L>F		No	ClinGen ExAC gnomAD
TCGA novel	39	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148966759 CA4816404	40	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148966759 CA4816403	40	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371750847 rs1329656131	45	P>R		No	ClinGen TOPMed
CA181489512 rs972284546	46	Q>R		No	ClinGen Ensembl
TCGA novel	47	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764980914 CA4816401	47	I>V		No	ClinGen ExAC gnomAD
CA371750832 rs1414910994	48	S>P		No	ClinGen gnomAD
rs961822576 CA181489508	49	S>Y		No	ClinGen Ensembl
CA4816399 rs114184492	51	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4816398 rs764051076	52	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA371750797 rs1563553258	53	F>V		No	ClinGen Ensembl
rs567088697 CA181489500	55	Q>H		No	ClinGen 1000Genomes
CA4816396 rs372872715	57	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4816397 rs372872715	57	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	59	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816394 rs759713117	61	Y>C		No	ClinGen ExAC gnomAD
CA4816395 rs767626221	61	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA371750737 rs1563553234	62	R>G		No	ClinGen Ensembl
CA181489489 rs954002155	62	R>K		No	ClinGen TOPMed gnomAD
CA371750720 rs1586174089	64	S>F		No	ClinGen Ensembl
CA4816392 rs771007852	65	S>F		No	ClinGen ExAC gnomAD
CA371750713 rs1586174079	66	L>V		No	ClinGen Ensembl
rs142588199 CA181489483	68	N>D		No	ClinGen ESP
CA371750696 rs1421368202	68	N>I		No	ClinGen gnomAD
CA4816390 rs773643175	73	T>P		No	ClinGen ExAC gnomAD
CA371750645 rs1485483116	75	S>L		No	ClinGen gnomAD
CA181489479 rs1000392704	76	S>G		No	ClinGen gnomAD
TCGA novel CA371750630 rs1214480682	77	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
TCGA novel	78	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816389 rs770436697	81	N>T		No	ClinGen ExAC gnomAD
CA371750592 rs1281219961	83	A>P		No	ClinGen gnomAD
rs1210435367 CA371750587	83	A>V		No	ClinGen gnomAD
rs1310873864 CA371750582	84	Q>R		No	ClinGen gnomAD
rs150071336 CA4816387	86	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4816386 rs757894456	87	L>V		No	ClinGen ExAC gnomAD
rs745557221 CA4816385	89	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4816383 rs756864841	91	M>V		No	ClinGen ExAC TOPMed gnomAD
CA371750530 rs1423469284	92	N>S		No	ClinGen TOPMed
CA4816382 rs753638017	93	E>G		No	ClinGen ExAC gnomAD
CA371750505 rs1311949862	96	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371750504 rs1311949862	96	Q>E		No	ClinGen gnomAD
CA371750503 rs1311949862	96	Q>K		No	ClinGen gnomAD
rs763821962 CA4816381	96	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA181489463 rs756380685	98	T>S		No	ClinGen Ensembl
rs756106575 CA4816380	99	Q>*		No	ClinGen ExAC gnomAD
rs533548805 CA4816379	100	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA371750471 rs1402775032	101	I>L		No	ClinGen TOPMed
rs767538840 CA4816378	101	I>T		No	ClinGen ExAC gnomAD
CA4816377 rs759679822	102	S>A		No	ClinGen ExAC
CA371750462 rs1417228995	102	S>C		No	ClinGen TOPMed gnomAD
CA371750443 rs1191600219	105	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA371750442 rs1191600219	105	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	109	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816375 rs766624978	109	F>V		No	ClinGen ExAC gnomAD
rs200509858 CA181489455	109	F>Y		No	ClinGen Ensembl
CA4816374 rs763207796	111	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1236704425 CA371750321	114	D>N		No	ClinGen gnomAD
rs75477527 CA4816359	118	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371750245 rs1472298852	119	L>F		No	ClinGen TOPMed
CA371750241 rs1448888380	120	S>P		No	ClinGen gnomAD
CA4816357 rs144681415	122	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4816356 COSM1187584 rs763333673	125	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs376719625 CA4816353	132	Q>H		No	ClinGen ESP ExAC gnomAD
CA371750073 rs1316103523	132	Q>P		No	ClinGen TOPMed gnomAD
rs201969952 CA4816352	133	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4816351 rs761032644	135	A>E		No	ClinGen ExAC gnomAD
rs1432968546 CA371750001	135	A>P		No	ClinGen TOPMed
CA371749999 rs1432968546	135	A>S		No	ClinGen TOPMed
CA4816350 rs761032644	135	A>V		No	ClinGen ExAC gnomAD
CA371749986 rs1586173263	136	D>A		No	ClinGen Ensembl
rs1412427612 CA371749972	137	P>R		No	ClinGen gnomAD
CA181489183 rs773973185	137	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773973185 CA4816349	137	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1164030688 CA371749968	138	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1164030688 CA371749970	138	P>T		No	ClinGen TOPMed gnomAD
rs748983979 CA4816347	141	P>A		No	ClinGen ExAC gnomAD
CA4816345 rs769392554	144	F>I		No	ClinGen ExAC TOPMed gnomAD
rs769392554 CA371749896	144	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4816344 rs747976035	146	L>F		No	ClinGen ExAC TOPMed gnomAD
rs145305126 COSM126813 CA4816343	147	R>*	upper_aerodigestive_tract large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145305126 CA4816342	147	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751445991 CA4816341	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1260781480 CA371749829	149	Y>H		No	ClinGen TOPMed gnomAD
rs758529559 CA4816339	150	V>M		No	ClinGen ExAC
rs1184894202 CA371749763	153	S>C		No	ClinGen TOPMed
rs199811648 CA181489157	155	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199811648 CA4816338	155	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765589238 CA4816337	156	L>P		No	ClinGen ExAC gnomAD
CA4816335 rs145985404	157	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764355477 CA4816334	157	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs764355477 CA4816333	157	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4816332 rs761314466	158	K>*		No	ClinGen ExAC gnomAD
rs775948154 CA4816331	158	K>R		No	ClinGen ExAC gnomAD
rs1289478604 CA371749691	159	L>F		No	ClinGen gnomAD
CA371749688 rs1419348608	160	V>I		No	ClinGen gnomAD
rs1411861939 CA371749675	161	L>F		No	ClinGen TOPMed
rs200757367 CA4816330	162	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	163	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816311 rs759991185	164	V>G		No	ClinGen ExAC gnomAD
rs549182133 CA371749333	164	V>L		No	ClinGen TOPMed gnomAD
rs549182133 CA181487888	164	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA371749327 rs1284702355	165	D>Y		No	ClinGen Ensembl
rs772760384 CA181487884	167	S>C		No	ClinGen ExAC TOPMed gnomAD
rs772760384 CA4816310	167	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764623303 CA4816309	168	K>T		No	ClinGen ExAC gnomAD
CA371749299 rs761594515	169	I>R		No	ClinGen ExAC gnomAD
CA4816308 rs761594515	169	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs370070651 CA181487875	170	E>Q		No	ClinGen Ensembl
CA371749289 rs1425286261	171	K>E		No	ClinGen TOPMed
TCGA novel	173	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371749256 rs1216705942	175	A>G		No	ClinGen gnomAD
rs776135078 CA4816307	178	L>P		No	ClinGen ExAC gnomAD
CA4816304 rs775383487	182	L>V		No	ClinGen ExAC gnomAD
CA4816303 rs371732086	183	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411941859 CA371749183	186	K>N		No	ClinGen gnomAD
CA4816302 rs745776762	188	I>L		No	ClinGen ExAC gnomAD
CA181487865 rs751324212	192	L>F		No	ClinGen Ensembl
CA4816300 rs757276935	192	L>R		No	ClinGen ExAC gnomAD
rs777867214 CA4816298	194	F>L		No	ClinGen ExAC gnomAD
rs1034960477 CA181487859	194	F>L		No	ClinGen TOPMed gnomAD
rs756324319 CA4816297	197	D>E		No	ClinGen ExAC gnomAD
rs1237556713 CA371749113	197	D>N		No	ClinGen TOPMed
CA371749105 rs1237315368	198	V>E		No	ClinGen gnomAD
rs753085465 CA4816296	198	V>M		No	ClinGen ExAC gnomAD
CA4816294 rs767848623	200	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM752429 CA4816293 rs755521604	201	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1275153748 CA371749090	201	E>K		No	ClinGen TOPMed gnomAD
CA371749089 rs1275153748	201	E>Q		No	ClinGen TOPMed gnomAD
rs1355919826 CA371749071	203	N>S		No	ClinGen gnomAD
rs752059011 CA4816292	204	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs368164737 CA4816291	204	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138095121 CA181487834	204	Q>R		No	ClinGen ESP TOPMed gnomAD
CA371749062 rs1563549469	205	L>M		No	ClinGen Ensembl
rs1435814449 CA371749049	207	A>S		No	ClinGen TOPMed
CA371749046 rs1200927452	207	A>V		No	ClinGen TOPMed
CA4816289 rs149331132	208	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763684089 CA4816287	209	L>V		No	ClinGen ExAC gnomAD
rs112357919 CA181487816	211	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4816286 rs112357919	211	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775473155 CA4816284	212	N>K		No	ClinGen ExAC TOPMed
rs759886730	212	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs148129681 CA4816282	213	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4816281 rs774138654	213	H>R		No	ClinGen ExAC gnomAD
COSM232823 CA4816283 rs148129681	213	H>Y	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4816280 rs770839197	214	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4816279 rs749363533	215	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1325943115 CA371748995	216	F>Y		No	ClinGen TOPMed
rs1249222971 CA371748988	217	S>F		No	ClinGen gnomAD
rs770053146 CA4816277	217	S>P		No	ClinGen ExAC TOPMed gnomAD
rs748340355 CA371748971	219	D>E		No	ClinGen ExAC gnomAD
rs781604940 CA4816275	220	L>V		No	ClinGen ExAC TOPMed gnomAD
CA371748954 rs1487694824	222	N>S		No	ClinGen gnomAD
CA4816274 rs755323903	223	L>V		No	ClinGen ExAC gnomAD
CA371748943 rs1320046220	224	K>Q		No	ClinGen TOPMed
CA4816273 rs751864506	225	T>S		No	ClinGen ExAC gnomAD
rs1228456163 CA371748931	226	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA371748905 rs1175044683	228	A>T	Variant assessed as Somatic; 4.785e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371748902 rs1412697375	228	A>V		No	ClinGen gnomAD
CA181486320 rs910675517	229	Y>C		No	ClinGen TOPMed gnomAD
rs545406368 CA181486318	233	K>E		No	ClinGen Ensembl
TCGA novel	234	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816245 rs755668545	236	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	237	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816243 rs563171694	240	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4816241 rs754632901	242	Q>E		No	ClinGen ExAC gnomAD
CA371748804 rs912462956	243	M>L		No	ClinGen TOPMed
CA181486310 rs912462956	243	M>V		No	ClinGen TOPMed
rs1219771044 CA371748768	248	P>S		No	ClinGen gnomAD
TCGA novel	250	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA181486308 rs374478839	252	N>H		No	ClinGen ESP
rs1416283331 CA371748738	252	N>K		No	ClinGen gnomAD
CA371748733 rs1379387235	253	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs766169344 CA4816239	258	L>P		No	ClinGen ExAC gnomAD
rs773190007 CA4816237	259	D>E		No	ClinGen ExAC gnomAD
CA371748695 rs1171112658	259	D>G		No	ClinGen TOPMed gnomAD
CA4816238 rs762868325	259	D>H		No	ClinGen ExAC gnomAD
CA371748698 rs762868325	259	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4816236 rs763318190	260	N>D		No	ClinGen ExAC TOPMed gnomAD
CA4816235 rs201470559	260	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476317835 CA371748683	261	R>T		No	ClinGen gnomAD
CA371748675 rs1257042835	262	L>W		No	ClinGen TOPMed gnomAD
CA371748672 rs1369428308	263	G>R		No	ClinGen gnomAD
CA4816234 rs776652562	264	F>C		No	ClinGen ExAC gnomAD
rs769712312	266	Q>S	Variant assessed as Somatic; 4.888e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA371748632 rs1317806937	268	E>G		No	ClinGen TOPMed gnomAD
rs768887665 CA4816232	268	E>Q		No	ClinGen ExAC gnomAD
CA371748631 rs1317806937	268	E>V		No	ClinGen TOPMed gnomAD
rs747232117 CA4816231	269	L>F		No	ClinGen ExAC
CA4816230 rs370504100	271	L>F		No	ClinGen ESP ExAC gnomAD
CA4816229 rs370504100	271	L>I		No	ClinGen ESP ExAC gnomAD
rs1480298416 CA371748614	271	L>R		No	ClinGen TOPMed
rs746417393 CA4816228	272	S>G		No	ClinGen ExAC gnomAD
CA371748593 rs1352404088	274	K>M		No	ClinGen TOPMed gnomAD
TCGA novel	274	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174971805 CA371748598	274	K>Q		No	ClinGen TOPMed
CA181486289 rs377226374	275	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA371748556 rs1381208820	278	D>G		No	ClinGen TOPMed
CA4816202 rs779763855	278	D>H		No	ClinGen ExAC gnomAD
CA371748551 rs1269893515	279	L>V		No	ClinGen gnomAD
rs750241466 CA4816200	282	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371748535 rs750241466	282	R>G		No	ClinGen ExAC TOPMed gnomAD
rs757226262 CA4816198	282	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757226262 CA371748533	282	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4816199 rs757226262	282	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4816197 rs141604955	283	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4816196 rs764136692	283	L>P		No	ClinGen ExAC gnomAD
rs760818906 CA4816195	285	R>G		No	ClinGen ExAC TOPMed gnomAD
CA181486217 rs754129908	286	L>Q		No	ClinGen Ensembl
CA371748504 rs767808032	288	T>I		No	ClinGen ExAC gnomAD
CA4816193 rs767808032	288	T>S		No	ClinGen ExAC gnomAD
TCGA novel	292	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371748479 rs1215456192	292	E>G		No	ClinGen TOPMed
CA4816191 rs374487894	294	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230972210 CA371748461	295	K>R		No	ClinGen gnomAD
rs910518208 CA181486212	296	E>K		No	ClinGen TOPMed
CA4816190 rs771421999	297	N>D		No	ClinGen ExAC gnomAD
CA4816189 rs763615774	298	M>T		No	ClinGen ExAC gnomAD
rs1486645115 CA371748440	298	M>V		No	ClinGen gnomAD
CA371748433 rs1215426735	299	K>Q		No	ClinGen gnomAD
rs1278876271 CA371748404	301	Y>C		No	ClinGen gnomAD
CA4816173 rs759908728	302	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4816172 rs374910514	302	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
rs199557277 CA4816170	304	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766653973 CA4816171	304	E>G		No	ClinGen ExAC gnomAD
CA4816168 rs770356464	306	G>C		No	ClinGen ExAC gnomAD
TCGA novel	306	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371748355 rs762204307	309	H>D		No	ClinGen ExAC gnomAD
CA371748353 rs1326918755	309	H>R		No	ClinGen TOPMed
rs762204307 CA4816166	309	H>Y		No	ClinGen ExAC gnomAD
CA371748344 rs150135437 CA4816163	310	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4816165 rs775105677	310	N>S		No	ClinGen ExAC gnomAD
rs778548567 COSM1102765 CA4816162	311	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770500814 CA371748317	314	H>L		No	ClinGen ExAC gnomAD
rs770500814 CA4816161	314	H>P		No	ClinGen ExAC gnomAD
CA4816160 rs372199279	315	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4816159 rs777379067	320	P>A		No	ClinGen ExAC gnomAD
rs756122298 CA4816158	321	K>Q		No	ClinGen ExAC gnomAD
rs187208751 CA4816157	322	M>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	323	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4816155 rs755124734	325	A>S		No	ClinGen ExAC gnomAD
COSM117571 rs1316140187 CA371748236	326	N>I	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA371748233 rs1286232992	327	K>Q		No	ClinGen gnomAD
rs538309199 CA4816154	329	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs766739931 CA4816153	329	K>N		No	ClinGen ExAC gnomAD
CA181485868 rs1010799619	331	T>S		No	ClinGen TOPMed
CA4816151 rs750850029	332	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA181485863 rs994613977	333	T>A		No	ClinGen TOPMed gnomAD
CA4816149 rs762448558	333	T>M		No	ClinGen ExAC TOPMed gnomAD
CA181485861 rs994613977	333	T>S		No	ClinGen TOPMed gnomAD
CA181485856 rs1004599859	334	F>S		No	ClinGen TOPMed gnomAD
CA181485854 rs369246822	335	D>Y		No	ClinGen ESP TOPMed
CA181485852 rs890118605	339	N>S		No	ClinGen TOPMed gnomAD
CA371748146 rs1163519089	340	V>M		No	ClinGen gnomAD
CA371748140 rs1472235778	341	M>V		No	ClinGen gnomAD
rs764525644 CA4816147	342	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1586163413 CA371748123	343	I>V		No	ClinGen Ensembl
rs1180213445 CA371748115	344	P>S		No	ClinGen gnomAD
CA371748105 rs1563544907	345	H>Q		No	ClinGen Ensembl
CA371748093 rs1458160759	347	I>L		No	ClinGen gnomAD
CA4816146 rs759048995	348	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1563544892 CA371748082	349	V>F		No	ClinGen Ensembl
rs773808375 CA4816145	350	K>M		No	ClinGen ExAC TOPMed gnomAD
CA181485847 rs773808375	350	K>R		No	ClinGen ExAC TOPMed gnomAD
CA371748054 rs1210695690	353	Q>*		No	ClinGen gnomAD
rs1355856086 CA371748049	353	Q>H		No	ClinGen gnomAD
CA371757966 rs1286911802	357	T>K		No	ClinGen gnomAD
CA371757960 rs1450021753	358	R>K		No	ClinGen gnomAD
CA371757945 rs780346728	360	F>L		No	ClinGen ExAC TOPMed gnomAD
rs746912502 CA4816114	360	F>Y		No	ClinGen ExAC gnomAD
CA371757936 rs1187118927	362	V>I		No	ClinGen TOPMed
rs772264077 CA4816112	363	K>N		No	ClinGen ExAC gnomAD
CA371757913 rs1471277534	365	R>K		No	ClinGen TOPMed
rs202146314 CA181512844	366	H>Y		No	ClinGen TOPMed
rs745903071 CA4816110	367	L>F		No	ClinGen ExAC gnomAD
rs779006858 CA4816109	368	F>L		No	ClinGen ExAC gnomAD
CA371757866 rs1423256451	372	L>*		No	ClinGen gnomAD
CA4816108 rs757458162	374	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754172612 CA4816107	375	A>T		No	ClinGen ExAC gnomAD
CA4816106 rs778086533	376	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs147727173 CA4816105	377	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA371757822 rs1375528496	379	P>S		No	ClinGen TOPMed
CA4816104 rs753191808	380	A>G		No	ClinGen ExAC gnomAD
rs762378020 CA4816102	383	N>K		No	ClinGen ExAC gnomAD
CA4816100 rs373637450	387	L>M		No	ClinGen ESP ExAC gnomAD
rs761504659 CA4816099	388	D>N		No	ClinGen ExAC gnomAD
rs1355988237 CA371757745	390	L>P		No	ClinGen TOPMed
rs1450367405 CA371757737	392	S>P		No	ClinGen gnomAD
CA4816097 COSM282906 rs370527769	392	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4816096 rs576105933	393	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA371757731 rs1563542848	393	I>V		No	ClinGen Ensembl
CA181512828 rs377505762	394	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377505762 CA4816095	394	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA181512826 VAR_053786 rs7461970	396	E>G		No	ClinGen UniProt Ensembl dbSNP
rs771977698 CA4816094	397	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1168664586 CA371757696	398	F>C		No	ClinGen gnomAD
CA4816092 rs375337121	400	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA371757673 rs1586160546	401	E>D		No	ClinGen Ensembl
CA4816091 rs771103964	401	E>K		No	ClinGen ExAC TOPMed gnomAD
CA181512817 rs1013201589	402	I>F		No	ClinGen TOPMed gnomAD
CA371757663 rs1240632908	403	A>T		No	ClinGen gnomAD
rs1199813615 CA371757653	404	K>N		No	ClinGen gnomAD
rs149018178 CA181512815	407	V>A		No	ClinGen ESP
TCGA novel	408	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249085635 CA371757626	409	D>N		No	ClinGen gnomAD
rs1321880171 CA371757614	410	F>S		No	ClinGen gnomAD
rs1223364111 CA371757617	410	F>V		No	ClinGen gnomAD
CA371757599 rs1434997920	412	K>T		No	ClinGen gnomAD
rs778174329 CA4816089	416	T>M		No	ClinGen ExAC gnomAD
rs1563542774	416	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA181512812 rs145439422	417	L>V		No	ClinGen ESP

No associated diseases with Q96E29

4 regional properties for Q96E29

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	318 - 326	IPR000629
domain	Helicase, C-terminal	408 - 560	IPR001650
domain	DEAD/DEAH box helicase domain	183 - 367	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	178 - 398	IPR014001

Functions

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

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name	Definition
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

2 GO annotations of biological process

Name	Definition
mitochondrial ribosome assembly	The aggregation, arrangement and bonding together of the mitochondrial ribosome and of its subunits.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZJC8	MTERF3	Transcription termination factor 3, mitochondrial	Gallus gallus (Chicken)	PR
Q99551	MTERF1	Transcription termination factor 1, mitochondrial	Homo sapiens (Human)	PR
Q8CHZ9	Mterf1a	Transcription termination factor 1a, mitochondrial	Mus musculus (Mouse)	PR
B9EJ57	Mterf1b	Transcription termination factor 1b, mitochondrial	Mus musculus (Mouse)	PR
Q8R3J4	Mterf3	Transcription termination factor 3, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALSAQQIPR	WFNSVKLRSL	INAAQLTKRF	TRPARTLLHG	FSAQPQISSD	NCFLQWGFKT
70	80	90	100	110	120
YRTSSLWNSS	QSTSSSSQEN	NSAQSSLLPS	MNEQSQKTQN	ISSFDSELFL	EELDELPPLS
130	140	150	160	170	180
PMQPISEEEA	IQIIADPPLP	PASFTLRDYV	DHSETLQKLV	LLGVDLSKIE	KHPEAANLLL
190	200	210	220	230	240
RLDFEKDIKQ	MLLFLKDVGI	EDNQLGAFLT	KNHAIFSEDL	ENLKTRVAYL	HSKNFSKADV
250	260	270	280	290	300
AQMVRKAPFL	LNFSVERLDN	RLGFFQKELE	LSVKKTRDLV	VRLPRLLTGS	LEPVKENMKV
310	320	330	340	350	360
YRLELGFKHN	EIQHMITRIP	KMLTANKMKL	TETFDFVHNV	MSIPHHIIVK	FPQVFNTRLF
370	380	390	400	410
KVKERHLFLT	YLGRAQYDPA	KPNYISLDKL	VSIPDEIFCE	EIAKASVQDF	EKFLKTL