AiPD: Autoinhibited Protein Database

O00267

Gene name	SUPT5H (SPT5, SPT5H)
Protein name	Transcription elongation factor SPT5
Names	hSPT5, DRB sensitivity-inducing factor 160 kDa subunit, DSIF p160, DRB sensitivity-inducing factor large subunit, DSIF large subunit, Tat-cotransactivator 1 protein, Tat-CT1 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6829
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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

27 structures for O00267

Entry ID	Method	Resolution	Chain	Position	Source
2DO3	NMR	-	A	462-523	PDB
2E6Z	NMR	-	A	420-471	PDB
2E70	NMR	-	A	694-757	PDB
3H7H	X-ray	155 A	B	176-273	PDB
4L1U	X-ray	242 A	G/H/I/J	778-790	PDB
5OHO	X-ray	160 A	A/B	536-646	PDB
5OHQ	X-ray	110 A	A	979-1087	PDB
5OIK	EM	370 A	Z	1-1087	PDB
5U98	X-ray	200 A	C/F	980-988	PDB
6EQY	NMR	-	A	522-647	PDB
6ER0	NMR	-	A	961-1087	PDB
6GMH	EM	310 A	Z	1-1087	PDB
6GML	EM	320 A	Z	1-1087	PDB
6TED	EM	310 A	Z	1-1087	PDB
7OKX	EM	330 A	Z	1-1087	PDB
7OKY	EM	414 A	Z	1-1087	PDB
7OL0	EM	300 A	Z	1-1087	PDB
7PKS	EM	360 A	Z	1-1087	PDB
7UNC	EM	300 A	Z	1-1087	PDB
7UND	EM	300 A	Z	1-1087	PDB
7YCX	EM	418 A	j	1-1087	PDB
8P4C	EM	380 A	Z	1-1087	PDB
8P4D	EM	360 A	Z	1-1087	PDB
8P4E	EM	390 A	Z	1-1087	PDB
8P4F	EM	400 A	Z	1-1087	PDB
8RBX	EM	410 A	Z	1-1087	PDB
AF-O00267-F1	Predicted				AlphaFoldDB

600 variants for O00267

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs761207333 CA9430461	3	D>H		No	ClinGen ExAC gnomAD
CA308211740 rs981927911	4	S>N		No	ClinGen Ensembl
CA405762296 rs1461880933	5	E>A		No	ClinGen gnomAD
rs1166907346 CA405762315	6	D>E		No	ClinGen gnomAD
TCGA novel	7	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405762351 rs1452490638	9	F>V		No	ClinGen gnomAD
TCGA novel	10	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	10	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600688108 CA405762384	11	E>A		No	ClinGen Ensembl
CA405762421 rs1342026938	13	E>D		No	ClinGen TOPMed gnomAD
rs1302397379 CA405762407	13	E>K		No	ClinGen gnomAD
CA308211757 rs938297493	14	D>N		No	ClinGen TOPMed
rs754205658 CA9430464	16	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	17	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568415160 CA405762470	17	R>G		No	ClinGen Ensembl
CA405762478 rs1297498578	17	R>H		No	ClinGen TOPMed
TCGA novel	21	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs578023322 CA308211763	21	G>S		No	ClinGen Ensembl
CA308211771 rs1055319121	23	E>D		No	ClinGen TOPMed gnomAD
rs1346684271 CA405762554	23	E>G		No	ClinGen TOPMed
rs938748895 CA308211767	23	E>K		No	ClinGen TOPMed gnomAD
CA9430466 rs778971841	24	A>G		No	ClinGen ExAC gnomAD
rs1316361003 CA405762561	24	A>T		No	ClinGen gnomAD
TCGA novel	25	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200510680 CA405763968	27	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758576184 CA9430487	27	D>G		No	ClinGen ExAC gnomAD
rs76377604 CA308215625	27	D>N		No	ClinGen 1000Genomes
rs751592720 CA405763970	28	E>*		No	ClinGen ExAC TOPMed gnomAD
CA9430489 rs751592720	28	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA405763971 rs1396685982	28	E>V		No	ClinGen TOPMed
CA9430491 rs373417384 COSM4140630	30	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9430490 rs757236653	30	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554076163 COSM996353 CA9430494	31	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755849550 CA9430493	31	R>W		No	ClinGen ExAC gnomAD
rs748898895 CA405764023	32	S>I		No	ClinGen ExAC gnomAD
CA9430495 rs748898895	32	S>N		No	ClinGen ExAC gnomAD
rs768315674 CA9430496	33	A>T		No	ClinGen ExAC gnomAD
rs141419838 CA9430497	34	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9430500 rs777261172	35	G>D		No	ClinGen ExAC TOPMed gnomAD
rs771632495 CA9430499	35	G>R		No	ClinGen ExAC gnomAD
rs1037358573 CA308215665	36	S>G		No	ClinGen Ensembl
rs1478797505 CA405764067	36	S>N		No	ClinGen gnomAD
CA405764142 rs1163380842	40	E>Q		No	ClinGen TOPMed
rs1410925219 CA405764164	41	E>D		No	ClinGen gnomAD
RCV000963705 rs536575281	41	E>missing		No	ClinVar dbSNP
CA405764185 rs775881092	43	E>D		No	ClinGen ExAC gnomAD
rs765521614 CA9430503	43	E>K		No	ClinGen ExAC gnomAD
CA405764202 rs1568419723	44	D>E		No	ClinGen Ensembl
CA405764196 rs1440179136	44	D>G		No	ClinGen gnomAD
CA9430508 rs764282082	45	E>D		No	ClinGen ExAC
CA405764205 rs763109965	45	E>K		No	ClinGen ExAC gnomAD
rs763109965 CA9430506	45	E>Q		No	ClinGen ExAC gnomAD
CA9430509 rs751682671	46	E>Q		No	ClinGen ExAC gnomAD
rs1269874745 CA405764255	47	E>D		No	ClinGen gnomAD
CA308215691 rs923821908	47	E>G		No	ClinGen TOPMed gnomAD
rs138303744 CA9430510	48	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767502475 CA9430511	49	E>Q		No	ClinGen ExAC
CA9430513 rs756015175	50	E>D		No	ClinGen ExAC gnomAD
rs750341215 CA9430512	50	E>K		No	ClinGen ExAC
rs779746190 CA9430514	51	E>D		No	ClinGen ExAC gnomAD
rs754624502 CA9430516	53	E>D		No	ClinGen ExAC gnomAD
rs1130180 CA405764359 CA405764357	54	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1452872155 CA405764349	54	Y>D		No	ClinGen gnomAD
rs1241180690 CA405764362	55	D>N		No	ClinGen gnomAD
rs1196305414 CA405764383	56	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	57	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405764467 rs1361716693	63	D>Y		No	ClinGen TOPMed
CA308215740 rs895933750	65	R>Q		No	ClinGen gnomAD
rs1399081252 CA405764512	66	P>S		No	ClinGen gnomAD
rs1399081252 CA405764510	66	P>T		No	ClinGen gnomAD
CA405764530 rs1327283839	67	P>R		No	ClinGen gnomAD
CA405764526 rs1317846641	67	P>S		No	ClinGen gnomAD
TCGA novel	68	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771718317 CA9430520	69	K>N		No	ClinGen ExAC gnomAD
rs1240022876 CA405764540	69	K>Q		No	ClinGen TOPMed
CA9430521 rs777349140	71	R>C		No	ClinGen ExAC TOPMed
rs777349140 CA405764554	71	R>G		No	ClinGen ExAC TOPMed
rs1320831162 CA405764555	71	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	79	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	84	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	87	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405765003 rs1455905931	91	Q>*		No	ClinGen gnomAD
CA9430539 rs758081369	98	D>N		No	ClinGen ExAC gnomAD
TCGA novel	98	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405765909 rs1378836764	108	S>F		No	ClinGen TOPMed
rs773977125 CA9430602	109	N>S		No	ClinGen ExAC TOPMed gnomAD
rs761549588 CA9430603	110	I>V		No	ClinGen ExAC gnomAD
rs1041370601 CA308220131	119	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	122	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308220136 rs748755071	124	R>C		No	ClinGen Ensembl
rs760253033	130	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405766249 rs1334364319	131	D>Y		No	ClinGen TOPMed
TCGA novel	133	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	135	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765905106 CA9430626	137	L>V		No	ClinGen ExAC gnomAD
CA882142824 rs1445666569	145	Y>*		No	ClinGen TOPMed
rs763559991 CA9430628	147	K>T		No	ClinGen ExAC gnomAD
CA405766493 rs1332842680	150	V>M		No	ClinGen TOPMed
CA405766518 rs1290088557	153	T>M		No	ClinGen gnomAD
rs1420036258 CA405766538	155	Y>H		No	ClinGen gnomAD
CA405766568 rs1160216809	159	D>V		No	ClinGen gnomAD
CA9430648 rs370828040	160	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405766597 rs374886918	163	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	163	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247428958 CA405766598	164	D>N		No	ClinGen TOPMed
TCGA novel	165	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405766613 rs1600706662	166	T>P		No	ClinGen Ensembl
rs866007687 CA308220278	169	Q>K		No	ClinGen Ensembl
CA9430650 rs768029022	169	Q>R		No	ClinGen ExAC
rs1341679923 CA405766658	173	G>R		No	ClinGen gnomAD
CA405766690 rs1406250184	176	D>N		No	ClinGen TOPMed
rs1258791862 CA405766699	177	P>A		No	ClinGen gnomAD
CA9430667 rs374742976	178	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA308220441 rs1130184	181	T>I		No	ClinGen Ensembl
CA405766726 rs1432344714	181	T>S		No	ClinGen gnomAD
rs1399786194 CA405766777	186	I>M		No	ClinGen gnomAD
CA308220655 rs1044402481	186	I>T		No	ClinGen gnomAD
CA405766773 rs1304645182	186	I>V		No	ClinGen gnomAD
rs771228703 CA9430688	190	R>W		No	ClinGen ExAC gnomAD
TCGA novel	191	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364724530 CA405766806	191	A>S		No	ClinGen gnomAD
CA405766816 rs1600707709	193	A>T		No	ClinGen Ensembl
rs142786035 CA9430690	194	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA405766849 rs1322473937	197	M>I		No	ClinGen gnomAD
CA9430691 rs190306198	198	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405766852 rs1247172816	198	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA308220660 rs969445628	201	I>T		No	ClinGen TOPMed
rs1351146607 CA405766871	201	I>V		No	ClinGen gnomAD
rs1421856185 CA405766900	205	F>L		No	ClinGen TOPMed
CA9430693 rs763006253	206	T>I		No	ClinGen ExAC gnomAD
TCGA novel	206	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486790529 CA405766919	207	D>E		No	ClinGen gnomAD
CA9430694 rs576571435	208	T>A		No	ClinGen ExAC TOPMed gnomAD
rs751504372 CA9430695	208	T>M		No	ClinGen ExAC TOPMed gnomAD
CA405766921 rs576571435	208	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	211	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198821193 CA405768673	211	Q>R		No	ClinGen gnomAD
CA308223140 rs968136950	213	K>R		No	ClinGen TOPMed gnomAD
CA405768717 rs1234256902	214	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9430723 rs771406918	215	V>I		No	ClinGen ExAC gnomAD
CA9430724 rs781714909	216	V>G		No	ClinGen ExAC
CA405768736 rs1279753604	216	V>L		No	ClinGen TOPMed
TCGA novel	218	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9430728 rs749536221	224	Y>C		No	ClinGen ExAC gnomAD
rs1466216458 CA405768794	224	Y>N		No	ClinGen gnomAD
CA9430729 rs749536221	224	Y>S		No	ClinGen ExAC gnomAD
CA308223193 rs570927495	227	V>L		No	ClinGen 1000Genomes TOPMed
CA308223184 rs570927495	227	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
TCGA novel	229	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767416240 CA9430732	232	Q>H		No	ClinGen ExAC gnomAD
rs1316671406 CA405768900	235	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9430736 rs753660702	238	A>T		No	ClinGen ExAC gnomAD
rs754714819 CA9430737	239	I>T		No	ClinGen ExAC gnomAD
CA405768978 rs1374969398	240	E>G		No	ClinGen TOPMed
CA405768996 rs1475014626	241	G>A		No	ClinGen TOPMed
CA405768991 rs1365331803	241	G>W		No	ClinGen gnomAD
rs1310363731 CA405769006	242	V>A		No	ClinGen gnomAD
CA405769004 rs1310363731	242	V>G		No	ClinGen gnomAD
rs748184839 CA9430739	242	V>L		No	ClinGen ExAC gnomAD
CA308223230 rs748184839	242	V>M		No	ClinGen ExAC gnomAD
CA308223234 rs74659452	243	G>S		No	ClinGen Ensembl
rs757939198 CA9430740	244	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777078953 CA9430742	246	R>Q		No	ClinGen ExAC gnomAD
CA9430744 rs756566752	247	L>P		No	ClinGen ExAC gnomAD
CA405769086 rs1404980518	249	Y>C		No	ClinGen gnomAD
rs1600714986 CA405769180	255	V>G		No	ClinGen Ensembl
rs1371267518 CA405769221	258	K>R		No	ClinGen TOPMed gnomAD
rs768936707 CA9430747	260	M>T		No	ClinGen ExAC TOPMed gnomAD
rs749622067 CA9430746	260	M>V		No	ClinGen ExAC gnomAD
CA405769285 rs1305137259	263	V>M		No	ClinGen gnomAD
CA405769299 rs1342428147	264	L>V		No	ClinGen gnomAD
rs923396519 CA308223262	265	K>R		No	ClinGen TOPMed gnomAD
CA405769334 rs1339781380	267	V>M		No	ClinGen gnomAD
CA9430749 rs748263077	270	V>G		No	ClinGen ExAC gnomAD
rs772200210 CA9430750	271	A>V		No	ClinGen ExAC gnomAD
CA9430751 rs773114096	275	P>L		No	ClinGen ExAC gnomAD
rs148558086 CA9430752	277	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9430753 rs766384846	280	R>H		No	ClinGen ExAC
CA405769516 rs1291858161	283	R>W		No	ClinGen TOPMed
CA405770264 rs1407749224	293	V>L		No	ClinGen gnomAD
CA9430780 rs772570773	296	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754349664 CA9430782	298	P>L		No	ClinGen ExAC gnomAD
rs1241665191 CA405770328	298	P>S		No	ClinGen gnomAD
CA9430783 rs755440697	303	I>V		No	ClinGen ExAC gnomAD
CA9430785 rs752971588	307	M>L		No	ClinGen ExAC gnomAD
CA9430786 rs758709054	309	P>A		No	ClinGen ExAC gnomAD
CA405770464 rs1396879471	310	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA405770539 rs1312505327	314	D>N		No	ClinGen TOPMed
rs375020910 CA9430789	314	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745821800 CA9430791	315	R>C		No	ClinGen ExAC gnomAD
rs775396805 CA9430793	315	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775396805 CA405770581	315	R>L		No	ClinGen ExAC TOPMed gnomAD
rs745821800 CA9430792	315	R>S		No	ClinGen ExAC gnomAD
rs1430717886 CA405770585	316	I>V		No	ClinGen gnomAD
rs768413830 CA9430795	317	K>E		No	ClinGen ExAC gnomAD
CA405770615 rs1330220225	317	K>R		No	ClinGen gnomAD
CA9430796 rs773891401	319	R>C		No	ClinGen ExAC gnomAD
rs761391829 CA9430797 COSM1681018	319	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA405770669 rs761391829	319	R>L		No	ClinGen ExAC TOPMed gnomAD
CA405770674 rs1330950987	320	M>V		No	ClinGen gnomAD
rs1401972766 CA405770712	321	S>R		No	ClinGen TOPMed
CA9430798 rs368395961	322	L>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	329	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405771001 rs1184912812	329	R>K		No	ClinGen gnomAD
CA308227097 rs1009292422	332	F>C		No	ClinGen TOPMed gnomAD
rs193164075 CA9430838	334	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1245699961 CA405771136	335	P>L		No	ClinGen TOPMed
rs770378423 CA9430840	338	R>K		No	ClinGen ExAC gnomAD
TCGA novel	340	F>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	342	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405771251 rs1378056371	342	A>P		No	ClinGen TOPMed
CA9430843 rs764664805	343	E>K		No	ClinGen ExAC gnomAD
CA9430844 rs555459715	344	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9430845 rs555459715	344	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9430846 rs767936726	345	I>M		No	ClinGen ExAC gnomAD
rs1205101524 CA405772688	348	L>M		No	ClinGen gnomAD
CA405772732 rs1480481327	349	G>E		No	ClinGen gnomAD
rs1178115509 CA405772750	350	G>D		No	ClinGen gnomAD
TCGA novel	350	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765231772 CA9430871	357	D>N		No	ClinGen ExAC gnomAD
CA308228476 rs565814759	360	I>M		No	ClinGen gnomAD
CA405773006 rs373667990	366	Y>*		No	ClinGen ExAC gnomAD
CA9430876 rs756925572	366	Y>H		No	ClinGen ExAC gnomAD
CA9430878 rs745453194	368	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405773044 rs1307044520	370	G>R		No	ClinGen TOPMed
rs996288453 CA405773110	377	A>P		No	ClinGen gnomAD
rs996288453 CA308228520	377	A>S		No	ClinGen gnomAD
CA9430880 rs779671752	378	M>T		No	ClinGen ExAC gnomAD
TCGA novel	379	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767152685 CA9430897	383	T>M	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9430899 rs755782756	387	K>R		No	ClinGen ExAC TOPMed gnomAD
rs755782756 CA9430900	387	K>T		No	ClinGen ExAC TOPMed gnomAD
rs748780633 CA9430901	388	P>A		No	ClinGen ExAC gnomAD
rs778353265 CA9430903	403	I>L		No	ClinGen ExAC gnomAD
rs1162659753 CA405773569	403	I>T		No	ClinGen gnomAD
CA405773604 rs1426455488	405	L>M		No	ClinGen gnomAD
TCGA novel	406	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771355865 CA9430905	408	V>A		No	ClinGen ExAC gnomAD
rs776808483 CA9430906	412	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315321896 CA405773864	416	R>Q		No	ClinGen gnomAD
rs370618161 CA9430931	416	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1237365290 CA405773890	418	H>R		No	ClinGen gnomAD
rs773211665 CA9430932	418	H>Y		No	ClinGen ExAC gnomAD
rs746682843 CA308228782	419	N>S		No	ClinGen Ensembl
rs766207097 CA405773959	422	P>A		No	ClinGen ExAC gnomAD
rs1568430314 CA405773966	422	P>R		No	ClinGen Ensembl
rs766207097 CA9430934	422	P>S		No	ClinGen ExAC gnomAD
rs1568430320 CA405773999	425	N>H		No	ClinGen Ensembl
rs753571894 CA9430936	425	N>S		No	ClinGen ExAC gnomAD
CA9430935 rs753571894	425	N>T		No	ClinGen ExAC gnomAD
rs1460936195 CA405774029	426	V>A		No	ClinGen gnomAD
CA405774071 rs1245235009	429	C>S		No	ClinGen gnomAD
CA9430938 rs752115579	431	G>S		No	ClinGen ExAC gnomAD
CA9430940 rs781656074	440	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1426507086 CA405774236	441	L>V		No	ClinGen gnomAD
rs1468865694 CA405774245	442	S>R		No	ClinGen gnomAD
TCGA novel	443	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407821139 CA405774318	446	N>K		No	ClinGen TOPMed gnomAD
CA308228817 rs931365422	447	K>R		No	ClinGen TOPMed gnomAD
rs1473610401 CA405774390	451	M>I		No	ClinGen TOPMed
TCGA novel	459	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405774617 rs1289377367	460	M>I		No	ClinGen gnomAD
CA9430962 rs780448197	464	P>L		No	ClinGen ExAC gnomAD
rs1600721798 CA405774678	465	A>T		No	ClinGen Ensembl
TCGA novel	469	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	472	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754123671 CA9430963	474	M>I		No	ClinGen ExAC TOPMed gnomAD
rs748347942 CA9430966	478	V>A		No	ClinGen ExAC gnomAD
rs1365408429 CA405774895	480	V>L		No	ClinGen gnomAD
rs1425785145 CA405774904	481	I>V		No	ClinGen TOPMed gnomAD
CA308229285 rs868133949	482	A>T		No	ClinGen Ensembl
rs1381747069 CA405774946	484	R>Q		No	ClinGen gnomAD
CA405774962 rs777947803	485	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1296452819 CA405774950	485	F>L		No	ClinGen gnomAD
rs746989824 CA9430969	487	G>S		No	ClinGen ExAC gnomAD
rs776633530 CA9430971	492	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1267176767 CA405775076	494	R>Q		No	ClinGen TOPMed gnomAD
CA9430972 rs370747849	494	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1261865777 CA405775103	496	E>D		No	ClinGen gnomAD
TCGA novel	497	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149954660 CA308229305	500	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs762626301 CA9430975	503	F>I		No	ClinGen ExAC gnomAD
CA405775268 rs1322829203	509	H>Y		No	ClinGen TOPMed
TCGA novel	510	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765566463 CA9430999	512	K>N		No	ClinGen ExAC gnomAD
TCGA novel	515	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9431001 rs758757399	515	P>S		No	ClinGen ExAC gnomAD
CA9431003 rs751772207	516	R>Q		No	ClinGen ExAC gnomAD
rs764395467 CA9431002	516	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1430759445 CA405776623	519	Q>E		No	ClinGen TOPMed
TCGA novel	522	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	522	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308229436 rs935601758	524	T>I		No	ClinGen TOPMed
rs745816565 CA9431006	533	Q>R		No	ClinGen ExAC gnomAD
CA9431008 rs779754608	539	L>V		No	ClinGen ExAC gnomAD
CA405777133 rs1205238403	543	D>N		No	ClinGen gnomAD
rs1254618893 CA405777154	544	P>H		No	ClinGen TOPMed gnomAD
CA405777161 rs1254618893	544	P>L		No	ClinGen TOPMed gnomAD
rs901846121 CA308229476	547	V>M		No	ClinGen Ensembl
rs961486634 CA308229485	549	V>I		No	ClinGen TOPMed
rs771517231 CA9431013	551	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9431014 rs772751857	552	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA405777373 rs1461315800	555	R>W		No	ClinGen TOPMed gnomAD
CA405777389 rs1276587194	556	E>Q		No	ClinGen TOPMed
rs761983112 CA405777675	562	N>K		No	ClinGen ExAC TOPMed gnomAD
rs767777416 CA9431039	563	M>T		No	ClinGen ExAC TOPMed gnomAD
CA405777682 rs1291249963	563	M>V		No	ClinGen gnomAD
rs1213694858 CA405777702	564	Y>F		No	ClinGen gnomAD
rs923477400 CA308229959	565	G>R		No	ClinGen TOPMed gnomAD
CA9431042 rs545987507	568	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA405777751 rs545987507	568	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs753808770 CA9431043	572	H>Y		No	ClinGen ExAC gnomAD
CA405777821 rs1162794182	573	Q>R		No	ClinGen gnomAD
CA9431044 rs754865197	575	V>M		No	ClinGen ExAC gnomAD
rs752482104 CA9431046	577	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9431047 rs758041067	581	N>S		No	ClinGen ExAC gnomAD
rs1272429732 CA405777999	582	R>H		No	ClinGen gnomAD
CA405778039 rs1568431726	584	A>P		No	ClinGen Ensembl
CA9431048 rs145047239	585	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756815861 CA9431050	594	I>M		No	ClinGen ExAC TOPMed gnomAD
rs764053456 CA308230013	595	H>R		No	ClinGen Ensembl
rs778761563 CA308230015	596	V>L		No	ClinGen Ensembl
CA9431052 rs749851868	600	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769263109 CA9431053	607	H>D		No	ClinGen ExAC gnomAD
TCGA novel	609	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405778493 rs756829280	610	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756829280 CA9431067	610	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	610	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745356627 CA9431069	615	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745356627 CA405778539	615	R>G		No	ClinGen ExAC gnomAD
rs1012744791 CA308230109	615	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779564956 CA9431071	619	R>Q		No	ClinGen ExAC gnomAD
CA9431074 rs374491321	622	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9431073 rs374491321	622	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1031355541 CA308230125	622	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA308230133 rs955955232	624	L>V		No	ClinGen TOPMed
rs1407677285 CA405778599	625	H>N		No	ClinGen TOPMed gnomAD
rs771132452 CA9431076	625	H>R		No	ClinGen ExAC gnomAD
TCGA novel	634	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405778668 rs1328656477	634	G>V		No	ClinGen gnomAD
rs775521321 CA9431080	635	M>V		No	ClinGen ExAC gnomAD
rs762759724 CA9431081	636	F>S		No	ClinGen ExAC gnomAD
rs1281436754 CA405778679	636	F>V		No	ClinGen gnomAD
rs763990097 CA9431082	637	V>I		No	ClinGen ExAC gnomAD
CA9431083 rs751290407	639	K>M		No	ClinGen ExAC TOPMed gnomAD
CA9431086 rs767289852	641	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9431087 rs750145626	641	R>H		No	ClinGen ExAC gnomAD
TCGA novel	648	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9431093 rs771222164	648	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9431094 rs771222164	648	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1365603742 CA405778788	652	R>C		No	ClinGen gnomAD
CA9431112 rs746130381	652	R>H		No	ClinGen ExAC gnomAD
rs1481436958 CA405778821	657	F>L		No	ClinGen TOPMed
rs1212478558 CA405778828	658	T>A		No	ClinGen TOPMed
rs1053041164 CA308230507	659	V>M		No	ClinGen TOPMed gnomAD
CA9431115 rs749323622	663	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774167124 CA9431117	665	M>V		No	ClinGen ExAC gnomAD
CA9431118 rs761789869	666	S>N		No	ClinGen ExAC gnomAD
rs773107223 CA9431120	668	R>Q		No	ClinGen ExAC gnomAD
CA9431119 rs772020805	668	R>W		No	ClinGen ExAC TOPMed gnomAD
rs933657450 CA308230522	673	M>T		No	ClinGen TOPMed gnomAD
rs1568432569 CA405779169	673	M>V		No	ClinGen Ensembl
CA405779182 rs1456795857	674	H>L		No	ClinGen TOPMed gnomAD
TCGA novel	676	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	677	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450818975 CA405779209	678	G>A		No	ClinGen gnomAD
CA405779227 rs1190781480	679	G>A		No	ClinGen gnomAD
rs756447476 CA9431149	681	R>C		No	ClinGen ExAC TOPMed gnomAD
CA405779237 rs756447476	681	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1435173431 CA405779239	681	R>H		No	ClinGen TOPMed gnomAD
rs1435173431 CA405779241	681	R>L		No	ClinGen TOPMed gnomAD
CA9431151 rs143117789	682	G>C		No	ClinGen ESP ExAC gnomAD
rs143117789 CA9431150	682	G>R		No	ClinGen ESP ExAC gnomAD
CA9431153 rs779179407	683	G>S		No	ClinGen ExAC gnomAD
rs1308591118 CA405779262	685	G>D		No	ClinGen gnomAD
CA405779273 rs1600725134	687	P>T		No	ClinGen Ensembl
rs1292471870 CA405779281	688	G>D		No	ClinGen gnomAD
rs748222458 CA9431154	688	G>S		No	ClinGen ExAC gnomAD
rs1341907719 CA405779292	690	G>D		No	ClinGen gnomAD
CA9431156 rs777870413	690	G>S		No	ClinGen ExAC gnomAD
CA405779298 rs1229742556	691	S>N		No	ClinGen gnomAD
CA9431158 rs770666615	692	G>V		No	ClinGen ExAC TOPMed gnomAD
rs774409298 CA308230704	693	G>D		No	ClinGen Ensembl
CA308230707 rs761738949	694	M>V		No	ClinGen gnomAD
CA405779341 rs1247433020	697	G>V		No	ClinGen TOPMed gnomAD
CA405779354 rs1600725264	700	R>W		No	ClinGen Ensembl
rs1169035690 CA405779381	704	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1455959029 CA405779392	705	L>R		No	ClinGen TOPMed
CA9431163 rs762453147	706	I>V		No	ClinGen ExAC gnomAD
CA9431165 rs370538069	707	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA405779410 rs1476057644	708	Q>R		No	ClinGen TOPMed
CA9431167 rs766691427	710	V>M		No	ClinGen ExAC gnomAD
rs201354316 CA9431168	711	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs759730737 CA9431169	711	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA405779435 rs1436252685	712	I>M		No	ClinGen gnomAD
TCGA novel	716	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	719	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753001876 CA9431193	721	I>M		No	ClinGen ExAC gnomAD
CA9431191 rs765653586	721	I>V		No	ClinGen ExAC gnomAD
CA405779513 rs1440521613	722	G>A		No	ClinGen gnomAD
CA405779509 rs1286009000	722	G>S		No	ClinGen gnomAD
rs1600725576 CA405779526	724	V>G		No	ClinGen Ensembl
TCGA novel	729	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308230844 rs955282415	731	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	733	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476170592 CA405779632	734	V>E		No	ClinGen gnomAD
CA405779675 rs1600725627	737	H>P		No	ClinGen Ensembl
rs775090215 CA9431197	739	T>P		No	ClinGen ExAC gnomAD
CA405779716 rs1472681713	740	C>S		No	ClinGen gnomAD
CA9431198 rs750269652	747	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779783357 CA9431200	752	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768271888 CA9431203	753	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9431202 rs768271888	753	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746429892 CA405779951	756	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770412349 CA9431227	756	R>Q	Variant assessed as Somatic; 4.965e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9431226 rs746429892	756	R>W		No	ClinGen ExAC TOPMed gnomAD
rs34605227 CA9431228	757	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9431229 rs749675703	757	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9431231 rs530828946	758	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9431230 rs530828946	758	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325798374 CA405779996	760	G>D		No	ClinGen gnomAD
rs773252082 CA9431234	760	G>S		No	ClinGen ExAC gnomAD
CA405780037 rs1168967266	763	S>L		No	ClinGen TOPMed
rs760660038 CA9431235	763	S>T		No	ClinGen ExAC gnomAD
rs1362444168 CA405780049	764	T>I		No	ClinGen TOPMed gnomAD
rs185388887 CA9431238	768	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1254471659 CA405780133	770	M>I		No	ClinGen gnomAD
rs1210016852 CA405780126	770	M>T		No	ClinGen gnomAD
rs373018045 CA9431241	770	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA405780183 rs1600726030	774	Q>P		No	ClinGen Ensembl
CA9431243 rs777403227	775	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1249099013 CA405780224	777	M>I		No	ClinGen gnomAD
CA405780220 rs1164772996	777	M>T		No	ClinGen TOPMed gnomAD
CA9431244 rs746513927	777	M>V		No	ClinGen ExAC gnomAD
CA405780237 rs1291365649	778	Y>C		No	ClinGen TOPMed
CA405780267 rs1232387534	780	S>F		No	ClinGen TOPMed
rs1020074969 CA308231036	783	R>*		No	ClinGen Ensembl
CA9431246 rs564243939	784	T>A		No	ClinGen 1000Genomes ExAC
CA405780315 rs1186056366	785	P>S		No	ClinGen gnomAD
rs1423281560 CA405780344	787	Y>H		No	ClinGen gnomAD
rs377355322 CA9431250	790	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA405780412 rs1456966721	791	T>I		No	ClinGen gnomAD
rs1362403584 CA405780432	793	L>F		No	ClinGen gnomAD
rs1383805587 CA405780448	794	Q>R		No	ClinGen gnomAD
rs1039439005 CA308231057	795	D>V		No	ClinGen TOPMed
CA9431269 rs772410534	796	G>D		No	ClinGen ExAC TOPMed gnomAD
CA405780520 rs772410534	796	G>V		No	ClinGen ExAC TOPMed gnomAD
CA405780594 rs1318394548	802	Y>C		No	ClinGen gnomAD
rs776672880 CA9431273	803	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405780649 rs1483831472	806	T>M		No	ClinGen gnomAD
CA405780715 rs1482781355	812	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769618502 CA9431275	813	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA405780734 rs1600726371	814	T>P		No	ClinGen Ensembl
rs1431730233 CA405780760	816	A>S		No	ClinGen gnomAD
CA308231150 rs950251547	818	S>G		No	ClinGen gnomAD
rs1568433649 CA405780816	820	A>S		No	ClinGen Ensembl
CA405780812 rs1568433649	820	A>T		No	ClinGen Ensembl
CA9431278 rs763935164	826	P>S		No	ClinGen ExAC gnomAD
rs751289280 CA9431279	827	N>S		No	ClinGen ExAC gnomAD
CA9431280 rs761525742	828	T>M		No	ClinGen ExAC TOPMed gnomAD
CA405780931 rs1298318272	828	T>S		No	ClinGen gnomAD
rs368525453 CA9431282	829	P>L		No	ClinGen ESP ExAC gnomAD
rs779289152 CA9431284	831	R>Q		No	ClinGen ExAC gnomAD
rs1237079495 CA405780966	831	R>W		No	ClinGen gnomAD
CA405781033 rs1195234503	832	A>D		No	ClinGen TOPMed
rs1462745518 CA405781031	832	A>T		No	ClinGen gnomAD
CA9431305 rs367892448	833	E>D		No	ClinGen ESP ExAC
TCGA novel	833	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318889234 CA405781080	836	Y>H		No	ClinGen gnomAD
CA9431306 rs758883659	838	Y>C		No	ClinGen ExAC gnomAD
CA9431307 rs764503110	840	F>L		No	ClinGen ExAC gnomAD
CA405781115 rs1377694698	841	D>N		No	ClinGen gnomAD
rs1008326534 CA308231342	842	D>H		No	ClinGen Ensembl
rs781285736 CA9431310	843	E>D		No	ClinGen ExAC gnomAD
CA9431309 rs757555270	843	E>K		No	ClinGen ExAC gnomAD
TCGA novel	844	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600727044 CA405781144	845	T>P		No	ClinGen Ensembl
CA405781149 rs1446234403	846	P>A		No	ClinGen gnomAD
CA9431312 rs756181782	846	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1180760135 CA405781161	848	P>S		No	ClinGen gnomAD
rs1475947464 CA405781184	851	Y>C		No	ClinGen gnomAD
CA308231368 rs913759241	852	G>V		No	ClinGen TOPMed
rs1388302896 CA405781195	853	G>E		No	ClinGen gnomAD
rs1453648784 CA405781214	856	N>S		No	ClinGen TOPMed gnomAD
CA9431318 rs771930976	864	D>E		No	ClinGen ExAC gnomAD
CA405781276 rs1313488114	865	P>L		No	ClinGen gnomAD
CA405781272 rs1447960152	865	P>S		No	ClinGen gnomAD
CA405781282 rs1568434224	866	S>L		No	ClinGen Ensembl
CA405781287 rs1226743616	867	S>F		No	ClinGen gnomAD
rs1351719033 CA405781310	871	N>D		No	ClinGen gnomAD
CA405781339 rs1440573218	875	N>H		No	ClinGen gnomAD
CA9431322 rs776193809	876	P>L		No	ClinGen ExAC gnomAD
TCGA novel	876	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486379906 CA405781361	878	T>A		No	ClinGen gnomAD
rs1459851735 CA405781365	878	T>M		No	ClinGen TOPMed
rs757641324 CA9431326	879	P>T		No	ClinGen ExAC gnomAD
CA405781375 rs1165324781	880	G>A		No	ClinGen TOPMed
CA9431329 rs369717101	882	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369717101 CA405781386	882	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA405781388 rs1314044543	883	A>T		No	ClinGen gnomAD
CA405781427 rs1460222171	886	N>S		No	ClinGen gnomAD
rs1330792852 CA405781450	889	Q>L		No	ClinGen gnomAD
TCGA novel	889	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746829064 CA9431354	890	F>L		No	ClinGen ExAC gnomAD
rs1303969327 CA405781455	890	F>L		No	ClinGen gnomAD
rs1445636885 CA405781467	892	P>A		No	ClinGen TOPMed
CA9431356 rs780846637	893	Y>C		No	ClinGen ExAC gnomAD
CA405781475 rs780846637	893	Y>F		No	ClinGen ExAC gnomAD
rs745483100 CA9431358	896	P>H		No	ClinGen ExAC TOPMed gnomAD
rs745483100 CA9431357	896	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	897	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405781505 rs994954477	898	P>L		No	ClinGen TOPMed gnomAD
CA308231515 rs994954477	898	P>R		No	ClinGen TOPMed gnomAD
rs1194638325 CA405781507	899	Q>E		No	ClinGen gnomAD
CA405781514 rs1346597772	900	G>S		No	ClinGen TOPMed
rs1255297797 CA405781519	900	G>V		No	ClinGen gnomAD
rs774960355 CA9431360	903	Q>H		No	ClinGen ExAC
CA405781550 rs1448134375	905	S>N		No	ClinGen gnomAD
rs762363129 CA9431361	906	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	909	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463574572 CA405781592	911	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761114242 CA9431364	915	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	919	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	922	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754140517 CA9431366	923	N>H		No	ClinGen ExAC TOPMed gnomAD
CA9431368 rs765453702	933	T>A		No	ClinGen ExAC TOPMed gnomAD
CA308231567 rs567426359	934	P>L		No	ClinGen 1000Genomes
rs537648520 CA9431371	937	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs757106895 CA9431374	939	Y>C		No	ClinGen ExAC gnomAD
rs757106895 CA9431373	939	Y>F		No	ClinGen ExAC gnomAD
CA405781828 rs1172086098	942	S>G		No	ClinGen TOPMed
CA308234324 rs944062270	945	P>L		No	ClinGen Ensembl
rs1374827699 CA405781873	948	V>A		No	ClinGen gnomAD
rs1171711692 CA405781868	948	V>I		No	ClinGen gnomAD
CA405781879 rs1416195544	949	G>V		No	ClinGen TOPMed
CA9431399 rs367965773	953	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777214245 CA9431400	954	T>I		No	ClinGen ExAC TOPMed gnomAD
CA405781916 rs1308073904	955	P>A		No	ClinGen TOPMed gnomAD
CA405781915 rs1308073904	955	P>T		No	ClinGen TOPMed gnomAD
CA405781928 rs1435589745	957	A>P		No	ClinGen TOPMed
CA9431404 rs763054973	964	N>D		No	ClinGen ExAC gnomAD
CA405781988 rs1199234405	966	H>R		No	ClinGen TOPMed
rs764285224 CA9431405	967	T>M		No	ClinGen ExAC gnomAD
CA405781992 rs1600728065	967	T>P		No	ClinGen Ensembl
rs149618269 CA9431409	973	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA405782082 rs1394399024	980	V>I		No	ClinGen gnomAD
rs766121996 CA9431411	982	T>I		No	ClinGen ExAC gnomAD
rs753563985 CA9431412	984	I>V		No	ClinGen ExAC gnomAD
CA405782138 rs1600728158	988	V>G		No	ClinGen Ensembl
CA9431413 rs371480690	989	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1025022963 CA308234357	991	T>A		No	ClinGen TOPMed gnomAD
CA405782156 rs1375121729	991	T>I		No	ClinGen gnomAD
rs376076668 CA9431414	992	Y>H		No	ClinGen ESP ExAC gnomAD
CA405782166 rs1332627261	993	L>V		No	ClinGen TOPMed
rs1303206387 CA405782170	994	D>N		No	ClinGen gnomAD
CA9431417 rs781771081	997	V>A		No	ClinGen ExAC TOPMed gnomAD
CA9431416 rs757926191	997	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1307017992 CA405782200	998	V>A		No	ClinGen gnomAD
TCGA novel	998	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405782209 rs1485848948	1000	Q>E		No	ClinGen gnomAD
rs1485848948 CA405782208	1000	Q>K		No	ClinGen gnomAD
rs1205371322 CA405782230	1003	V>I		No	ClinGen gnomAD
rs1253262110 CA405782243	1005	R>C		No	ClinGen gnomAD
rs770322431 CA9431419	1005	R>H		No	ClinGen ExAC gnomAD
CA9431420 rs780261041	1008	T>M		No	ClinGen ExAC gnomAD
rs772174825 CA9431444	1009	G>E		No	ClinGen ExAC gnomAD
CA9431445 rs773253839	1010	G>R		No	ClinGen ExAC gnomAD
CA405782309 rs1374228850	1014	V>M		No	ClinGen gnomAD
CA405782319 rs1015888512	1015	Y>C		No	ClinGen TOPMed gnomAD
rs1015888512 CA308234772	1015	Y>F		No	ClinGen TOPMed gnomAD
rs80027112 CA405782334	1017	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405782331 rs1600730202	1017	K>R		No	ClinGen Ensembl
rs1440295431 CA405782348	1019	S>I		No	ClinGen gnomAD
TCGA novel	1020	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308218369 CA405782375	1023	V>F		No	ClinGen gnomAD
CA9431449 rs1555748569	1025	I>V		No	ClinGen Ensembl
CA405782400 rs1316650629	1027	S>G		No	ClinGen gnomAD
CA405782418 rs1600730277	1029	H>P		No	ClinGen Ensembl
rs1239405315 CA405782432	1031	E>G		No	ClinGen TOPMed
rs1345726516 CA405782438	1032	P>T		No	ClinGen gnomAD
TCGA novel	1036	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405782468 rs1294499059	1037	K>E		No	ClinGen gnomAD
CA405782498 rs1443722552	1040	K>N		No	ClinGen gnomAD
rs765647325 CA9431480	1049	R>Q		No	ClinGen ExAC gnomAD
rs542586659 CA9431479	1049	R>W		No	ClinGen 1000Genomes ExAC
CA9431483 rs377048747	1052	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9431486 rs577692870	1054	V>I		No	ClinGen ExAC TOPMed gnomAD
CA405782708 rs1220119692	1064	I>V		No	ClinGen gnomAD
rs1260623119 CA405782720	1065	V>F		No	ClinGen TOPMed
CA9431489 rs775504091	1067	M>T		No	ClinGen ExAC gnomAD
TCGA novel	1067	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1069	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405782813 rs1270090397	1072	Q>E		No	ClinGen gnomAD
CA308234842 rs897435389	1077	N>S		No	ClinGen gnomAD
CA405782884 rs897435389	1077	N>T		No	ClinGen gnomAD
CA9431493 rs761492127	1079	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771527166 CA9431494	1079	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1198718640 CA405783014	1088	A>R		No	ClinGen TOPMed

No associated diseases with O00267

17 regional properties for O00267

Type	Name	Position	InterPro Accession
domain	NGN domain	178 - 264	IPR005100
domain	KOW	272 - 299	IPR005824-1
domain	KOW	419 - 446	IPR005824-2
domain	KOW	471 - 501	IPR005824-3
domain	KOW	593 - 620	IPR005824-4
domain	KOW	703 - 730	IPR005824-5
domain	KOW	1034 - 1061	IPR005824-6
domain	NusG-like, N-terminal	176 - 267	IPR006645
domain	Spt5 transcription elongation factor, N-terminal	75 - 172	IPR022581
domain	Spt5 C-terminal domain	772 - 908	IPR024945
domain	NGN domain, eukaryotic	178 - 265	IPR039385
domain	Spt5, KOW domain repeat 1	276 - 313	IPR041973
domain	Spt5, KOW domain repeat 2	420 - 470	IPR041975
domain	Spt5, KOW domain repeat 3	471 - 521	IPR041976
domain	Spt5, KOW domain repeat 4	597 - 639	IPR041977
domain	Spt5, KOW domain repeat 5	702 - 751	IPR041978
domain	Spt5, KOW domain repeat 6	1028 - 1084	IPR041980

Functions

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

3 GO annotations of cellular component

Name	Definition
DSIF complex	A heterodimeric protein complex formed of Spt4 and Spt5 proteins which is expressed in eukaryotes from yeast to man. DSIF is an inhibitory elongation factor that promotes RNA polymerase II transcriptional pausing, but can also stimulate transcriptional elongation under certain conditions, and may play a role in RNA processing via its physical association with mRNA capping enzymes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
RNA binding	Binding to an RNA molecule or a portion thereof.

8 GO annotations of biological process

Name	Definition
negative regulation of DNA-templated transcription, elongation	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of DNA-templated transcription, elongation	Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
positive regulation of macroautophagy	Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
transcription elongation by RNA polymerase II promoter	The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9V460	Spt5	Transcription elongation factor SPT5	Drosophila melanogaster (Fruit fly)	PR
O55201	Supt5h	Transcription elongation factor SPT5	Mus musculus (Mouse)	PR
Q9STN3	At4g08350	Putative transcription elongation factor SPT5 homolog 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSDSEDSNFS	EEEDSERSSD	GEEAEVDEER	RSAAGSEKEE	EPEDEEEEEE	EEEYDEEEEE
70	80	90	100	110	120
EDDDRPPKKP	RHGGFILDEA	DVDDEYEDED	QWEDGAEDIL	EKEEIEASNI	DNVVLDEDRS
130	140	150	160	170	180
GARRLQNLWR	DQREEELGEY	YMKKYAKSSV	GETVYGGSDE	LSDDITQQQL	LPGVKDPNLW
190	200	210	220	230	240
TVKCKIGEER	ATAISLMRKF	IAYQFTDTPL	QIKSVVAPEH	VKGYIYVEAY	KQTHVKQAIE
250	260	270	280	290	300
GVGNLRLGYW	NQQMVPIKEM	TDVLKVVKEV	ANLKPKSWVR	LKRGIYKDDI	AQVDYVEPSQ
310	320	330	340	350	360
NTISLKMIPR	IDYDRIKARM	SLKDWFAKRK	KFKRPPQRLF	DAEKIRSLGG	DVASDGDFLI
370	380	390	400	410	420
FEGNRYSRKG	FLFKSFAMSA	VITEGVKPTL	SELEKFEDQP	EGIDLEVVTE	STGKEREHNF
430	440	450	460	470	480
QPGDNVEVCE	GELINLQGKI	LSVDGNKITI	MPKHEDLKDM	LEFPAQELRK	YFKMGDHVKV
490	500	510	520	530	540
IAGRFEGDTG	LIVRVEENFV	ILFSDLTMHE	LKVLPRDLQL	CSETASGVDV	GGQHEWGELV
550	560	570	580	590	600
QLDPQTVGVI	VRLERETFQV	LNMYGKVVTV	RHQAVTRKKD	NRFAVALDSE	QNNIHVKDIV
610	620	630	640	650	660
KVIDGPHSGR	EGEIRHLFRS	FAFLHCKKLV	ENGGMFVCKT	RHLVLAGGSK	PRDVTNFTVG
670	680	690	700	710	720
GFAPMSPRIS	SPMHPSAGGQ	RGGFGSPGGG	SGGMSRGRGR	RDNELIGQTV	RISQGPYKGY
730	740	750	760	770	780
IGVVKDATES	TARVELHSTC	QTISVDRQRL	TTVGSRRPGG	MTSTYGRTPM	YGSQTPMYGS
790	800	810	820	830	840
GSRTPMYGSQ	TPLQDGSRTP	HYGSQTPLHD	GSRTPAQSGA	WDPNNPNTPS	RAEEEYEYAF
850	860	870	880	890	900
DDEPTPSPQA	YGGTPNPQTP	GYPDPSSPQV	NPQYNPQTPG	TPAMYNTDQF	SPYAAPSPQG
910	920	930	940	950	960
SYQPSPSPQS	YHQVAPSPAG	YQNTHSPASY	HPTPSPMAYQ	ASPSPSPVGY	SPMTPGAPSP
970	980	990	1000	1010	1020
GGYNPHTPGS	GIEQNSSDWV	TTDIQVKVRD	TYLDTQVVGQ	TGVIRSVTGG	MCSVYLKDSE
1030	1040	1050	1060	1070	1080
KVVSISSEHL	EPITPTKNNK	VKVILGEDRE	ATGVLLSIDG	EDGIVRMDLD	EQLKILNLRF

LGKLLEA