Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q96MN5

Entry ID Method Resolution Chain Position Source
AF-Q96MN5-F1 Predicted AlphaFoldDB

191 variants for Q96MN5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1048484677
CA22698736
2 D>V No ClinGen
TOPMed
rs1255850946
CA340436389
3 K>E No ClinGen
gnomAD
COSM1296581
CA340436423
rs1329527200
4 F>L Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA340436434
rs1302829685
5 V>I No ClinGen
TOPMed
CA863828
rs778936595
7 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 7 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340436515
rs1487205267
9 P>R No ClinGen
gnomAD
rs142194812
CA863830
9 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA22698742
COSM910842
rs968953779
10 R>G Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs138552479
CA863831
11 I>T No ClinGen
ESP
ExAC
TOPMed
rs1261988330
CA340436578
12 Q>* No ClinGen
gnomAD
rs771348032
CA863833
13 N>H No ClinGen
ExAC
gnomAD
CA863834
rs774965287
14 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs762634160
CA863835
14 S>R No ClinGen
ExAC
gnomAD
rs768240665
CA863836
15 P>L No ClinGen
ExAC
gnomAD
rs773982649
COSM1198474
CA863838
17 K>N large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 18 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767491126
CA863840
21 G>E No ClinGen
ExAC
gnomAD
rs1362771825
CA340436780
22 G>A No ClinGen
TOPMed
gnomAD
rs959926412
CA22698791
23 K>N No ClinGen
Ensembl
rs992728241
CA22698792
24 V>I No ClinGen
TOPMed
CA340436798
rs992728241
24 V>L No ClinGen
TOPMed
rs143447897
CA22698804
25 Y>C No ClinGen
ESP
ExAC
gnomAD
rs143447897
CA863843
25 Y>F No ClinGen
ESP
ExAC
gnomAD
rs760342468
CA863842
25 Y>H No ClinGen
ExAC
gnomAD
CA863845
rs142262266
27 Q>R No ClinGen
ESP
ExAC
gnomAD
rs758477995
CA863848
28 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA22698845
rs752770321
28 A>P No ClinGen
ExAC
gnomAD
rs752770321
CA863847
28 A>T No ClinGen
ExAC
gnomAD
rs1485277681
CA340436877
29 T>K No ClinGen
gnomAD
CA863850
rs201738154
30 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340423610
rs1042704692
36 V>A No ClinGen
TOPMed
gnomAD
CA22678835
rs1042704692
36 V>D No ClinGen
TOPMed
gnomAD
CA340423615
rs1482496724
37 V>E No ClinGen
gnomAD
CA863865
rs758430968
38 V>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 40 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 40 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA22678841
rs375590073
41 D>G No ClinGen
Ensembl
rs764125137
CA863866
41 D>N No ClinGen
ExAC
gnomAD
rs1557688058
CA340423646
42 I>K No ClinGen
Ensembl
CA340423649
rs1439128451
42 I>M No ClinGen
gnomAD
CA340423647
rs1557688058
42 I>T No ClinGen
Ensembl
CA340423644
rs1557688056
42 I>V No ClinGen
Ensembl
rs1156998967
CA340423658
44 R>G No ClinGen
gnomAD
rs1397102786
CA340423668
45 W>* No ClinGen
gnomAD
rs1246848271
CA340423673
45 W>C No ClinGen
gnomAD
TCGA novel 46 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340423686
rs150639315
47 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA863867
rs150639315
47 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150639315
CA340423685
47 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340423692
rs1357164956
48 M>I No ClinGen
gnomAD
rs757767731
CA863868
48 M>T No ClinGen
ExAC
gnomAD
rs1570000349
CA340423688
COSM3741314
COSM3741315
48 M>V liver [Cosmic] No ClinGen
cosmic curated
Ensembl
CA863870
rs746174983
53 D>G No ClinGen
ExAC
gnomAD
rs781611589
CA863869
53 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1408193112
CA340423726
54 Q>K No ClinGen
TOPMed
CA863872
rs144986013
56 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA22678897
rs767886928
56 K>R No ClinGen
Ensembl
rs747836005
CA863873
57 E>G No ClinGen
ExAC
rs1233053422
CA340423754
58 N>D No ClinGen
gnomAD
TCGA novel 59 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771896032
CA863874
60 V>A No ClinGen
ExAC
gnomAD
rs1186967243
CA340423767
60 V>I No ClinGen
TOPMed
rs772759970
CA863875
62 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs772759970
CA863877
62 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA340423782
rs1310782581
62 A>S No ClinGen
gnomAD
CA863876
rs772759970
62 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA340423790
rs1233959620
64 Q>* No ClinGen
gnomAD
CA340423800
rs1457754357
65 E>* No ClinGen
TOPMed
gnomAD
CA340423798
rs1457754357
65 E>K No ClinGen
TOPMed
gnomAD
CA340423825
rs1490239286
68 K>R No ClinGen
TOPMed
CA22678922
rs1040831141
70 I>T No ClinGen
TOPMed
gnomAD
CA340423839
rs1266185201
70 I>V No ClinGen
TOPMed
TCGA novel 70 I>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM681748
CA863878
rs776439131
71 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776439131
CA340423843
71 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs759270050
CA863879
72 S>F No ClinGen
ExAC
TOPMed
TCGA novel 77 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340423905
rs1445124509
80 R>K No ClinGen
TOPMed
gnomAD
CA340423915
rs1411447380
81 I>M No ClinGen
gnomAD
CA340423918
rs1345750794
82 G>R No ClinGen
TOPMed
rs762802716
CA863902
84 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA340426098
rs762802716
84 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA863904
rs774445232
88 M>V No ClinGen
ExAC
gnomAD
rs370305122
CA863905
89 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA863906
rs76384967
89 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA863907
rs76384967
89 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340426131
rs370305122
89 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1448844156
CA340426144
91 H>P No ClinGen
gnomAD
CA340426148
rs1216703226
91 H>Q No ClinGen
gnomAD
CA340426141
rs1315830143
91 H>Y No ClinGen
TOPMed
CA863908
rs761245920
94 S>L No ClinGen
ExAC
gnomAD
CA863910
rs767055319
98 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA863911
rs142157986
99 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340426204
rs1472393742
101 R>G No ClinGen
gnomAD
CA863912
rs755398648
102 E>Q No ClinGen
ExAC
gnomAD
CA340426223
rs1409482362
103 V>G No ClinGen
gnomAD
CA863914
rs751194630
106 E>D No ClinGen
ExAC
gnomAD
rs41294784
CA863913
106 E>K No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA22692987
rs41294784
106 E>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA340426243
rs1314951541
107 W>G No ClinGen
gnomAD
rs867737674
CA22693009
109 T>N No ClinGen
Ensembl
CA22693027
rs1041676863
110 F>S No ClinGen
TOPMed
gnomAD
CA22693049
rs756973311
116 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA863915
rs756973311
116 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA22693057
rs780543399
116 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA863916
rs780543399
116 N>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 117 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340426314
rs1244644782
117 R>K No ClinGen
gnomAD
CA340426322
rs1282963558
118 P>H No ClinGen
TOPMed
gnomAD
rs200057608
CA863918
120 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA863917
rs745440627
120 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA340426342
rs1271041773
121 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1285578781
CA340426353
123 R>T No ClinGen
gnomAD
CA340426357
rs1487465672
124 S>G No ClinGen
gnomAD
rs768355168
CA863921
129 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA863922
rs142956141
130 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1157586491
CA340426412
132 R>G No ClinGen
gnomAD
rs904579301
CA22693092
132 R>K No ClinGen
Ensembl
rs773416554
CA863925
134 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs760908241
CA863926
138 L>* No ClinGen
ExAC
gnomAD
CA340426475
rs1395856006
140 S>L No ClinGen
gnomAD
rs1332741177
CA340426493
142 A>T No ClinGen
gnomAD
rs1447596860
CA340426519
144 E>K No ClinGen
gnomAD
rs1162154208
CA340427795
147 M>K No ClinGen
TOPMed
CA340427818
rs1444544768
148 D>E No ClinGen
TOPMed
CA340427804
rs1557695152
148 D>N No ClinGen
Ensembl
CA22698718
rs913218545
149 H>D No ClinGen
Ensembl
rs771158515
CA863948
149 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA340427854
rs1474494686
152 V>G No ClinGen
TOPMed
CA863949
rs759937568
152 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 153 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340427893
rs1252778212
155 I>T No ClinGen
gnomAD
rs775713693
CA863951
156 E>G No ClinGen
ExAC
gnomAD
CA863950
rs370725438
156 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA863953
rs767095722
157 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA863952
rs763379829
157 R>W No ClinGen
ExAC
gnomAD
rs1266221149
CA340427930
158 E>D No ClinGen
gnomAD
CA863954
rs750094338
158 E>V No ClinGen
ExAC
gnomAD
rs965951920
CA22698762
159 T>M No ClinGen
TOPMed
CA22698785
rs997728832
160 F>I No ClinGen
TOPMed
gnomAD
CA863957
rs753440249
161 H>R No ClinGen
ExAC
gnomAD
rs1170566448
CA340427981
162 L>P No ClinGen
gnomAD
CA22698821
rs529952234
162 L>V No ClinGen
1000Genomes
gnomAD
TCGA novel 163 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA863959
rs41294786
COSM681747
164 S>C lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA863960
rs41294786
164 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA863961
rs147217795
165 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758227253
CA863962
165 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1385265269
CA340428004
166 L>P No ClinGen
gnomAD
rs567002853
CA22698889
167 I>N No ClinGen
1000Genomes
TOPMed
gnomAD
CA863966
rs771321590
170 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs747267844
CA863965
170 P>S No ClinGen
ExAC
gnomAD
CA22698899
rs201915019
171 Y>H No ClinGen
Ensembl
rs774935013
CA22698920
172 R>P No ClinGen
ExAC
gnomAD
CA863968
rs774935013
172 R>Q No ClinGen
ExAC
gnomAD
CA863967
rs150173822
172 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA863970
rs762443594
173 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA863969
rs770131308
COSM1198473
173 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs371890157
CA340428042
174 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764470272
CA863972
174 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371890157
CA863971
174 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1570026646
CA340428051
175 V>G No ClinGen
Ensembl
rs1426003446
CA340428062
177 A>V No ClinGen
gnomAD
CA863974
rs774735168
178 L>P No ClinGen
ExAC
gnomAD
rs1570026673
CA340428074
179 V>G No ClinGen
Ensembl
CA340428071
rs1367913849
179 V>L No ClinGen
gnomAD
rs1290817496
CA340428093
182 L>* No ClinGen
TOPMed
gnomAD
rs1290817496
CA340428092
182 L>S No ClinGen
TOPMed
gnomAD
rs1399154523
CA340428110
184 H>Q No ClinGen
gnomAD
CA863977
rs569179457
185 R>* No ClinGen
1000Genomes
ExAC
gnomAD
rs765027682
CA340428114
185 R>L No ClinGen
ExAC
gnomAD
COSM910846
rs765027682
CA863979
185 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA863980
rs538127698
186 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1194585344
CA340428125
187 E>V No ClinGen
TOPMed
rs1046518851
CA22699015
188 I>T No ClinGen
TOPMed
CA863983
rs374584308
189 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777682264
CA863982
189 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 191 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA863985
rs781481333
192 V>G No ClinGen
ExAC
gnomAD
rs1248340918
CA340428193
193 K>R No ClinGen
TOPMed
rs745878111
CA863986
195 G>S No ClinGen
ExAC
gnomAD
CA863987
rs769935527
196 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA340428229
rs1182923673
196 S>P No ClinGen
gnomAD
rs769935527
CA863988
196 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA340428246
rs1570026835
197 L>P No ClinGen
Ensembl
CA340428277
rs1557695259
200 G>R No ClinGen
Ensembl
rs762234407
CA863992
201 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764835560
CA863996
207 K>Q No ClinGen
ExAC
gnomAD
rs1393079767
CA340428380
207 K>R No ClinGen
TOPMed
gnomAD
rs370390913
CA863997
208 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q96MN5

3 regional properties for Q96MN5

Type Name Position InterPro Accession
domain Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type 38 - 113 IPR003617
domain Transcription elongation factor S-II, central domain 131 - 208 IPR003618
domain Transcription factor IIS, N-terminal 40 - 114 IPR017923

Functions

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

1 GO annotations of cellular component

Name Definition
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
DNA-templated transcription The synthesis of an RNA transcript from a DNA template.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A5PKE4 TCEANC2 Transcription elongation factor A N-terminal and central domain-containing protein 2 Bos taurus (Bovine) PR
P23193 TCEA1 Transcription elongation factor A protein 1 Homo sapiens (Human) PR
P23881 Tcea3 Transcription elongation factor A protein 3 Mus musculus (Mouse) PR
P10711 Tcea1 Transcription elongation factor A protein 1 Mus musculus (Mouse) PR
Q8R2M0 Tceanc2 Transcription elongation factor A N-terminal and central domain-containing protein 2 Mus musculus (Mouse) PR
Q5XIC7 Tceanc2 Transcription elongation factor A N-terminal and central domain-containing protein 2 Rattus norvegicus (Rat) PR
P52652 T24H10.1 Putative transcription elongation factor S-II Caenorhabditis elegans PR
10 20 30 40 50 60
MDKFVIRTPR IQNSPQKKDS GGKVYKQATI ESLKRVVVVE DIKRWKTMLE LPDQTKENLV
70 80 90 100 110 120
EALQELKKKI PSREVLKSTR IGHTVNKMRK HSDSEVASLA REVYTEWKTF TEKHSNRPSI
130 140 150 160 170 180
EVRSDPKTES LRKNAQKLLS EALELKMDHL LVENIERETF HLCSRLINGP YRRTVRALVF
190 200
TLKHRAEIRA QVKSGSLPVG TFVQTHKK