3QXY.A | SETD6

General Structure Information

PDB ID	3qxy
HGNC Gene Label(s)	SETD6
Structure Name	human setd6 in complex with rela lys310
Resolution	2.09Å
Reference	AUTH Y.CHANG,D.LEVY,J.R.HORTON,J.PENG,X.ZHANG,O.GOZANI,X.CHENGTITL STRUCTURAL BASIS OF SETD6-MEDIATED REGULATION OF THE NF-KBTITL 2 NETWORK VIA METHYL-LYSINE SIGNALING.REF NUCLEIC ACIDS RES. V. 39 6380 2011REFN ISSN 0305-1048PMID 21515635DOI 10.1093/NAR/GKR256

Variant Set Distributions

ExAC Variants

Number Of Residues	420
Number Of SNVs	116
Number Of Permutations	20206
Optimal Distance Threshold	9.0
K Statistic	0.031
p-value	0.876

COSMIC

Number Of Residues	420
Number Of SNVs	3
Number Of Permutations	222
Optimal Distance Threshold	46.0
K Statistic	0.333
p-value	0.213

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	116
Number Of COSMIC SNVs	3
Optimal Distance Threshold	35.0
K Statistic	-0.613
p-value	0.069

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:58549723		L>R	A:19	(78.73, 18.96, -0.23)
16:58549728		P>S	A:21	(78.89, 22.60, 2.67)
16:58549734		A>S	A:23	(82.90, 18.91, 4.64)
16:58549735	rs140846961	A>V	A:23	(82.90, 18.91, 4.64)
16:58549887		G>S	A:74	(66.79, 18.51, 4.13)
16:58549902		A>T	A:79	(72.24, 5.13, 9.35)
16:58549944		P>S	A:93	(81.35, 20.29, 22.99)
16:58549968		H>Y	A:101	(76.65, 33.33, 27.93)
16:58549975		C>S	A:103	(79.41, 35.29, 21.89)
16:58549984	rs371390189	G>D	A:106	(78.98, 38.53, 26.03)
16:58549987	rs374240201	G>D	A:107	(79.86, 40.80, 27.93)
16:58549998		R>G	A:111	(78.40, 44.54, 30.52)
16:58550109		R>Q	A:113	(72.00, 41.88, 32.95)
16:58550125		S>R	A:118	(61.73, 40.29, 26.77)
16:58550142		P>L	A:124	(70.13, 38.19, 24.20)
16:58550148		L>R	A:126	(68.26, 37.34, 18.55)
16:58550172	rs371010569	Q>R	A:134	(78.62, 41.27, 11.44)
16:58550174	rs374591667	A>S	A:135	(81.62, 38.57, 11.78)
16:58550180		A>T	A:137	(86.01, 35.95, 12.51)
16:58550187		R>H	A:139	(84.35, 31.80, 17.22)
16:58550194		R>S	A:141	(82.75, 31.17, 9.20)
16:58550199	rs371818985	Y>F	A:143	(76.10, 26.29, 12.83)
16:58550201		F>L	A:144	(76.36, 30.36, 10.77)
16:58550213		P>S	A:148	(68.18, 27.50, 6.47)
16:58550238		P>L	A:156	(52.76, 30.63, 9.76)
16:58550243		F>L	A:158	(57.21, 34.30, 7.47)
16:58550386	rs147467868	E>K	A:161	(46.16, 38.00, 8.13)
16:58550392		E>Q	A:163	(46.62, 32.11, 3.70)
16:58550395		R>C	A:164	(47.99, 33.96, 9.36)
16:58550399		R>Q	A:165	(41.99, 35.47, 9.11)
16:58550407		L>F	A:168	(44.98, 28.15, 10.77)
16:58550426		P>L	A:174	(46.03, 32.59, 14.37)
16:58550439		E>D	A:178	(48.15, 38.33, 16.65)
16:58550440	rs370929550	K>E	A:179	(51.31, 37.04, 21.42)
16:58550474		S>Y	A:190	(62.48, 49.34, 22.01)
16:58550478	COSM971991	I>M	A:191	(65.19, 46.66, 22.69)
16:58550506	COSM1265348	D>H	A:201	(81.34, 48.45, 16.36)
16:58550510	rs150248211	L>R	A:202	(79.48, 45.23, 17.42)
16:58550531		S>F	A:209	(66.89, 43.99, 9.11)
16:58550543	rs138913683	Y>C	A:213	(64.50, 40.43, 14.89)
16:58550545		H>Y	A:214	(60.58, 39.18, 11.47)
16:58550550		Q>H	A:215	(64.43, 35.82, 8.68)
16:58550560		L>V	A:219	(66.30, 30.12, 13.13)
16:58550563		V>M	A:220	(65.29, 30.70, 17.56)
16:58550568	rs147069922	M>I	A:221	(60.84, 29.62, 16.77)
16:58550573		Y>C	A:223	(66.87, 25.21, 13.56)
16:58550722		P>A	A:228	(66.38, 21.71, 31.40)
16:58550751	COSM971993	E>D	A:237	(65.21, 31.21, 35.93)
16:58550752		P>S	A:238	(64.12, 30.27, 32.77)
16:58550755		N>Y	A:239	(67.90, 28.11, 30.94)
16:58550756	rs371517288	N>S	A:239	(67.90, 28.11, 30.94)
16:58550757		N>K	A:239	(67.90, 28.11, 30.94)
16:58550762		P>L	A:241	(67.68, 30.02, 24.29)
16:58550774		P>L	A:245	(76.05, 22.55, 16.83)
16:58550780	rs377260676	A>G	A:247	(71.63, 18.65, 16.88)
16:58550785		I>V	A:249	(71.34, 18.21, 11.39)
16:58550806		H>Y	A:256	(61.53, 9.56, 19.33)
16:58550809		N>D	A:257	(65.22, 7.23, 16.73)
16:58550810	rs143850199	N>S	A:257	(65.22, 7.23, 16.73)
16:58550813		A>G	A:258	(66.65, 10.16, 19.34)
16:58550816		N>S	A:259	(67.28, 11.55, 23.25)
16:58550821		E>Q	A:261	(71.57, 12.80, 27.29)
16:58550825		Y>C	A:262	(71.34, 18.72, 28.27)
16:58551959	rs144586441	C>Y	A:266	(78.49, 17.54, 27.21)
16:58551964	rs372232329 COSM971994	R>W	A:268	(76.43, 12.98, 26.02)
16:58551969		M>I	A:269	(72.04, 12.84, 20.45)
16:58551982		P>T	A:274	(66.39, 0.22, 17.37)
16:58551985		I>V	A:275	(68.45, 2.99, 14.14)
16:58551986		I>S	A:275	(68.45, 2.99, 14.14)
16:58551992		K>R	A:277	(72.11, 0.06, 6.76)
16:58552001	rs376598080	E>G	A:280	(65.96, 9.93, 9.11)
16:58552037		Q>R	A:292	(52.84, 23.23, 19.17)
16:58552038		Q>H	A:292	(52.84, 23.23, 19.17)
16:58552042		I>V	A:294	(52.62, 25.00, 11.76)
16:58552045	rs148482512	H>D	A:295	(53.87, 28.71, 15.96)
16:58552049	COSM3402396	M>K	A:296	(57.48, 27.20, 16.71)
16:58552054	rs562423552	G>S	A:298	(56.80, 24.58, 9.59)
16:58552090		T>P	A:310	(46.64, 18.38, 20.88)
16:58552099	rs368994803	I>V	A:313	(38.81, 23.04, 25.58)
16:58552100		I>T	A:313	(38.81, 23.04, 25.58)
16:58552117		R>C	A:319	(33.15, 30.84, 32.39)
16:58552120	rs372631905	E>Q	A:320	(30.02, 29.65, 27.57)
16:58552133		Q>R	A:324	(24.64, 27.44, 28.16)
16:58552329	rs141713767	H>R	A:333	(26.74, 35.60, 40.26)
16:58552335		V>G	A:335	(28.85, 29.68, 38.16)
16:58552337	rs569569218	Y>H	A:336	(30.43, 33.98, 37.23)
16:58552340		E>K	A:337	(31.80, 31.30, 42.59)
16:58552343	rs150559584	R>C	A:338	(30.81, 26.47, 41.70)
16:58552349	rs11865588	D>N	A:340	(36.30, 32.96, 41.36)
16:58552371		M>T	A:347	(43.35, 24.47, 38.57)
16:58552372	rs369627378	M>I	A:347	(43.35, 24.47, 38.57)
16:58552400		G>R	A:357	(44.41, 14.01, 23.66)
16:58552404		R>T	A:358	(45.38, 10.72, 19.20)
16:58552419		T>S	A:363	(45.21, 19.50, 31.36)
16:58552446		K>T	A:372	(34.84, 18.08, 41.93)
16:58552634		C>R	A:375	(29.16, 19.48, 38.96)
16:58552654	rs146704739	F>L	A:381	(30.97, 25.37, 46.65)
16:58552671	rs35087114	Q>R	A:387	(37.22, 23.79, 54.49)
16:58552695		R>T	A:395	(43.35, 17.88, 44.45)
16:58552713	COSM1189286	T>M	A:401	(41.26, 7.99, 29.47)
16:58552719		T>I	A:403	(38.55, 3.89, 28.88)
16:58552722		N>I	A:404	(38.31, 6.62, 32.37)
16:58552724		I>V	A:405	(35.80, 10.00, 29.66)
16:58552754		L>M	A:415	(30.15, 20.46, 31.41)
16:58552766	rs149216485	S>C	A:419	(32.39, 22.55, 26.12)
16:58552787	rs34965375	T>A	A:426	(35.65, 27.98, 16.88)
16:58552797		T>I	A:429	(34.39, 23.94, 8.76)
16:58552801		D>E	A:430	(32.26, 20.36, 9.45)
16:58552809	rs201699679	T>I	A:433	(34.45, 19.46, 5.12)
16:58552816		Q>H	A:435	(37.40, 13.17, 6.45)
16:58552823	rs147924580	L>V	A:438	(42.11, 13.62, 4.00)
16:58552831		N>K	A:440	(39.74, 12.36, -2.51)
16:58552834	rs368320716	K>N	A:441	(44.28, 10.69, -1.28)
16:58552838		V>I	A:443	(40.96, 16.44, -3.72)
16:58552845	rs36085499	A>V	A:445	(46.75, 16.90, -4.27)
16:58552865		Q>K	A:452	(48.30, 19.95, 1.89)
16:58552884		R>H	A:458	(41.73, 22.35, 9.64)
16:58552887		Y>C	A:459	(41.43, 15.25, 10.39)
16:58552895		K>E	A:462	(37.96, 19.09, 13.66)
16:58552896	rs547105426	K>M	A:462	(37.96, 19.09, 13.66)
16:58552899		M>T	A:463	(39.17, 13.40, 14.70)
16:58552905		L>S	A:465	(37.19, 17.84, 19.70)
16:58552907		H>D	A:466	(33.88, 15.07, 16.66)
16:58552914		L>W	A:468	(35.56, 14.16, 23.92)
16:58552929		S>I	A:473	(27.08, 11.26, 24.73)

3QXY.A | SETD6.

3QXY.A | SETD6

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:58550528	COSM1189285	R>H	A:208	(71.87, 48.30, 11.20)
16:58550812	COSM2992784	A>T	A:258	(66.65, 10.16, 19.34)
16:58552129	COSM1609458	L>V	A:323	(26.72, 30.21, 32.50)