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 Q9H2G4

Entry ID Method Resolution Chain Position Source
AF-Q9H2G4-F1 Predicted AlphaFoldDB

482 variants for Q9H2G4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs782724184
CA10418503
2 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA413113208
rs1556807111
2 D>Y No ClinGen
gnomAD
rs1556807114
CA413113236
3 R>S No ClinGen
gnomAD
CA413113273
rs1556807116
4 P>S No ClinGen
gnomAD
rs781914325
CA10418504
6 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA413113338
rs1556807120
6 E>G No ClinGen
gnomAD
rs898527518
CA329168633
6 E>K No ClinGen
Ensembl
CA413113355
rs1556807124
7 G>E No ClinGen
gnomAD
CA413113393
rs1469158674
9 P>S No ClinGen
TOPMed
gnomAD
rs1469158674
CA413113385
9 P>T No ClinGen
TOPMed
gnomAD
CA413113498
rs1556807132
12 T>I No ClinGen
gnomAD
TCGA novel 14 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413113597
rs1318359585
16 S>N No ClinGen
TOPMed
gnomAD
CA413113650
rs1284339555
17 S>R No ClinGen
TOPMed
gnomAD
rs183642206
CA413113652
18 S>A No ClinGen
1000Genomes
gnomAD
rs1222766539
CA413113666
18 S>C No ClinGen
TOPMed
gnomAD
CA329168642
rs183642206
18 S>P No ClinGen
1000Genomes
gnomAD
CA413113658
rs183642206
18 S>T No ClinGen
1000Genomes
gnomAD
rs1556807146
CA413113689
19 E>G No ClinGen
gnomAD
rs1556807145
CA413113672
19 E>K No ClinGen
gnomAD
CA413113741
rs1556807147
21 P>A No ClinGen
gnomAD
rs1556807148
CA413113772
22 Q>R No ClinGen
gnomAD
CA10418507
rs781871680
23 R>L No ClinGen
ExAC
gnomAD
CA10418508
rs782504396
25 P>L No ClinGen
ExAC
gnomAD
rs1305586848
CA413113842
26 P>S No ClinGen
TOPMed
CA413114990
rs1252690968
28 P>A No ClinGen
TOPMed
CA413114995
rs1192226103
28 P>R No ClinGen
TOPMed
rs1002926853
CA329168690
30 P>L No ClinGen
gnomAD
CA413115029
rs1556807174
31 P>L No ClinGen
gnomAD
rs781884842
RCV000999438
32 P>missing No ClinVar
dbSNP
rs781884842
RCV000239202
33 P>missing No ClinVar
dbSNP
CA413115050
rs1556807180
33 P>L No ClinGen
gnomAD
CA413115076
rs1556807186
36 R>* No ClinGen
gnomAD
rs1444736813
CA413115103
38 P>L No ClinGen
TOPMed
rs1556807194
CA413115120
40 P>L No ClinGen
gnomAD
rs1556807193
CA413115118
40 P>S No ClinGen
gnomAD
CA413115128
rs1234857280
41 P>A No ClinGen
TOPMed
rs1300971313
CA413115154
43 Q>R No ClinGen
TOPMed
rs782451065
CA10418517
44 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA413115266
rs1602101717
51 E>K No ClinGen
Ensembl
TCGA novel 54 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413115361
rs1602101724
56 Q>E No ClinGen
Ensembl
TCGA novel 56 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413115371
rs1556807211
56 Q>R No ClinGen
gnomAD
CA10418520
rs782544701
60 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs782223791
CA10418522
62 R>K No ClinGen
ExAC
gnomAD
rs1569227244
CA413115493
63 G>R No ClinGen
Ensembl
CA413115532
rs1556807234
65 G>E No ClinGen
gnomAD
rs1358640232
CA413115556
67 G>R No ClinGen
TOPMed
rs1358640232
CA413115554
67 G>S No ClinGen
TOPMed
rs1314844230
CA413115572
68 P>S No ClinGen
TOPMed
gnomAD
rs782412723
CA10418526
70 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA413115656
rs1556807246
72 P>L No ClinGen
gnomAD
rs782760564
CA10418529
72 P>S No ClinGen
ExAC
gnomAD
TCGA novel 74 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781973800
CA10418530
75 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA413115722
rs1556807258
76 Y>C No ClinGen
gnomAD
CA10418532
rs782716321
82 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs782716321
CA413115847
82 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs781793525
CA10418533
84 I>L No ClinGen
ExAC
gnomAD
rs1556807263 84 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868974991
CA413115920
86 A>S No ClinGen
gnomAD
CA413115914
rs868974991
86 A>T No ClinGen
gnomAD
rs1556807271
CA413115926
86 A>V No ClinGen
gnomAD
rs1556807276
CA413115932
87 Y>H No ClinGen
gnomAD
CA10418535
rs782790882
89 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA413115992
rs1258920633
90 L>F No ClinGen
TOPMed
rs200235910
CA10418537
91 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868944420
CA413116031
92 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1206581888
CA413116049
93 E>D No ClinGen
TOPMed
gnomAD
CA413116041
rs1278158064
93 E>Q No ClinGen
TOPMed
rs782596856
CA10418539
94 C>G No ClinGen
ExAC
gnomAD
rs782596856
CA10418538
94 C>R No ClinGen
ExAC
gnomAD
rs782431539
CA10418540
95 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA10418543
rs782391431
101 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1214136520
CA413116222
COSM3708664
101 I>V liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1556807299
CA413116279
103 S>L No ClinGen
gnomAD
rs1556807305
CA413116310
105 Y>D No ClinGen
gnomAD
rs1295191118
CA413116425
109 P>S No ClinGen
TOPMed
rs1375338128
CA413116476
111 P>T No ClinGen
TOPMed
gnomAD
rs1556807317
CA413116539
114 S>G No ClinGen
gnomAD
CA413116547
rs1556807320
114 S>N No ClinGen
gnomAD
rs1602101968
CA413116658
119 P>S No ClinGen
Ensembl
rs781938963
CA10418547
120 T>I No ClinGen
ExAC
gnomAD
rs1556807329
CA413116679
120 T>P No ClinGen
gnomAD
CA10418549
rs782426401
121 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782053997
CA10418548
121 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 122 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782022963
CA10418550
122 E>G No ClinGen
ExAC
gnomAD
CA413116816
rs1188010467
124 S>L No ClinGen
TOPMed
gnomAD
CA10418557
rs201527496
125 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413116842
rs200823725
CA10418555
125 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10418556
rs201527496
125 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200823725
CA413116839
125 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782157673 127 S>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs782639859
CA10418559
127 S>I No ClinGen
ExAC
gnomAD
rs1250546800
CA413116969
130 I>V No ClinGen
TOPMed
gnomAD
rs782478654
CA10418562
131 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA10418563
rs782649574
133 Q>E No ClinGen
ExAC
gnomAD
rs782201620
CA10418564
134 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA413117047
rs782201620
134 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs782314641
CA10418565
136 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs188041795
CA10418566
137 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA10418568
rs782399753
138 S>G No ClinGen
ExAC
gnomAD
CA10418569
rs782793681
138 S>R No ClinGen
ExAC
gnomAD
CA10418570
rs782105353
139 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs782314089
CA10418571
140 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs1556807368
CA413117202
141 G>D No ClinGen
gnomAD
rs1310674266
CA413117251
143 E>G No ClinGen
TOPMed
CA10418573
rs782161959
148 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA413117433
rs782792077
149 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs782792077
CA10418574
149 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1556807383
CA413117458
150 S>N No ClinGen
gnomAD
TCGA novel 151 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782759070
CA10418577
155 A>S No ClinGen
ExAC
rs781820784
CA10418578
155 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10418579
rs144264921
156 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413117705
rs1249791967
158 R>K No ClinGen
TOPMed
rs1469615945
CA413117781
160 V>A No ClinGen
TOPMed
CA413117766
rs1602102149
160 V>I No ClinGen
Ensembl
rs782541253
CA10418582
161 D>G No ClinGen
ExAC
gnomAD
rs782653951
CA10418583
162 P>L No ClinGen
ExAC
gnomAD
CA329168991
rs147809315
162 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA413117882
rs1556807412
164 S>R No ClinGen
gnomAD
TCGA novel 167 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782486858
CA10418585
169 I>F No ClinGen
ExAC
gnomAD
CA413118055
rs1263752143
171 I>V No ClinGen
TOPMed
TCGA novel 173 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782013886
CA10418591
174 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs782314519
CA10418592
177 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1327004488
CA413118251
180 R>P No ClinGen
TOPMed
gnomAD
TCGA novel 184 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413118340
rs1556807436
184 R>K No ClinGen
gnomAD
rs781855034
CA10418593
185 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA413118380
rs1388205721
187 R>W No ClinGen
TOPMed
rs368493284
CA413118428
189 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781920742
CA10418601
190 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782707868
CA10418600
190 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1013022953
CA329169056
192 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10418604
rs781875909
193 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs192279149
CA413118482
193 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
RCV000999439
rs1602102251
195 R>missing No ClinVar
dbSNP
TCGA novel 199 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782374761
CA329169090
200 V>G No ClinGen
1000Genomes
rs782668342
CA10418610
200 V>M No ClinGen
ExAC
gnomAD
rs1238530279
CA413118660
202 R>M No ClinGen
TOPMed
gnomAD
CA413118675
rs1304609582
203 E>K No ClinGen
TOPMed
rs782632847
CA10418613
204 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 206 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782342028
CA10418615
206 E>G No ClinGen
ExAC
gnomAD
rs782228545
CA10418614
206 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA329169110
rs963766645
210 E>A No ClinGen
Ensembl
COSM1122904
rs782435988
CA10418618
210 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1556807486
CA413118833
212 M>L No ClinGen
gnomAD
CA413118852
rs1295814650
213 E>Q No ClinGen
TOPMed
gnomAD
CA329169116
rs372826412
214 S>N No ClinGen
ESP
TOPMed
rs1556807496
CA413118958
219 L>V No ClinGen
gnomAD
TCGA novel 220 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418620
rs782133426
221 D>A No ClinGen
ExAC
gnomAD
rs782133426
CA10418621
221 D>V No ClinGen
ExAC
gnomAD
CA413119142
rs1556807503
228 A>T No ClinGen
gnomAD
rs975255965
CA329169145
229 V>A No ClinGen
Ensembl
TCGA novel 231 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375827801
CA10418622
235 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10418623
rs782090845
237 F>L No ClinGen
ExAC
CA413119495
rs1429346571
239 R>C No ClinGen
TOPMed
rs782138092
CA10418626
242 R>H No ClinGen
ExAC
TCGA novel 248 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413119865
rs1556807513
252 L>V No ClinGen
gnomAD
rs782493555
CA10418629
254 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs782493555
CA413119927
254 R>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 256 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413119997
rs1556807524
257 L>H No ClinGen
gnomAD
rs782601558
CA10418630
257 L>V No ClinGen
ExAC
TOPMed
gnomAD
VAR_075536 262 I>M found in patients with mild intellectual disability; unknown pathological significance [UniProt] No UniProt
CA413120198
rs1275739524
264 G>D No ClinGen
TOPMed
CA413120289
rs1375956619
267 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1556807840
CA413120732
271 L>F No ClinGen
gnomAD
CA413120766
rs1351157319
272 N>H No ClinGen
TOPMed
gnomAD
rs782321647
CA10418655
272 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 275 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556807853
CA413120958
279 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1556807857
CA413121001
281 N>T No ClinGen
gnomAD
rs1368644810
CA413121008
282 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10418658
rs782398266
282 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA413121024
rs1403222151
283 R>C No ClinGen
TOPMed
rs781958730
CA10418659
283 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA413121085
rs1569228093
286 D>Y No ClinGen
Ensembl
COSM1230717
rs782227977
CA10418660
289 R>C lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199763926
CA10418661
289 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1556807871
CA413121174
292 T>S No ClinGen
gnomAD
CA413123055
rs1305873504
297 Q>H No ClinGen
TOPMed
CA10418703
rs782210338
300 R>K No ClinGen
ExAC
TOPMed
rs1229404836
CA413123193
302 I>T No ClinGen
TOPMed
TCGA novel 309 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 312 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782355371
CA10418704
313 Q>H No ClinGen
ExAC
CA10418705
rs782562823
314 T>I No ClinGen
ExAC
gnomAD
rs1556807962
CA413123584
316 P>H No ClinGen
gnomAD
rs1556807962
CA413123585
316 P>R No ClinGen
gnomAD
CA413123580
rs1556807960
316 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10418707
rs782394621
321 M>T No ClinGen
ExAC
gnomAD
CA10418706
rs782191661
321 M>V No ClinGen
ExAC
CA413123903
rs1556807970
327 F>L No ClinGen
gnomAD
CA10418708
rs781992684
329 R>C No ClinGen
ExAC
gnomAD
rs782133998
CA10418709
329 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs781977698
CA10418711
330 N>K No ClinGen
ExAC
CA10418710
rs782346892
330 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10418712
rs782055951
331 R>C No ClinGen
ExAC
gnomAD
rs201895359
CA10418713
331 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781890138
CA10418714
332 S>L No ClinGen
ExAC
gnomAD
CA10418738
rs782740859
334 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA413124110
rs1556808020
334 R>W No ClinGen
gnomAD
CA413124167
rs1293666952
337 S>F No ClinGen
TOPMed
rs183690746
CA10418739
338 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA413124252
rs1602103846
342 I>V No ClinGen
Ensembl
CA10418741
rs782710737
343 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA413124285
rs1556808032
343 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA413124337
rs1160418050
345 H>L No ClinGen
TOPMed
gnomAD
rs782545023
CA10418743
346 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA329170317
COSM1491064
rs782709479
346 R>W Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1000151289
CA329170333
348 Q>R No ClinGen
TOPMed
CA329170340
rs1033330656
350 P>T No ClinGen
Ensembl
rs781829924
CA10418745
352 A>V No ClinGen
ExAC
gnomAD
rs376609801
CA10418746
353 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369549099
CA10418747
353 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs782195059
CA10418748
354 R>C No ClinGen
ExAC
gnomAD
CA10418749
rs782539542
354 R>H No ClinGen
ExAC
gnomAD
CA10418751
rs782250059
356 G>R No ClinGen
ExAC
gnomAD
rs782391917
CA10418752
358 Q>R No ClinGen
ExAC
gnomAD
rs781950604
CA10418753
360 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs781950604
CA10418754
360 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413124743
rs1556808059
362 H>Q No ClinGen
gnomAD
TCGA novel 365 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418756
rs781934817
368 F>I No ClinGen
ExAC
gnomAD
rs1556808067
CA413124969
370 N>S No ClinGen
gnomAD
rs782138409
CA10418757
371 H>Q No ClinGen
ExAC
gnomAD
CA413125020
rs1602103967
372 S>I No ClinGen
Ensembl
CA10418758
rs782804078
373 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA413125029
rs782804078
373 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1556808077
CA413125160
378 R>G No ClinGen
gnomAD
CA413125166
rs1236415661
378 R>K No ClinGen
TOPMed
CA413125171
rs1332513949
378 R>S No ClinGen
TOPMed
TCGA novel 379 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418759
rs781976001
379 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1172975380
CA413125330
382 I>V No ClinGen
TOPMed
rs1556808136
CA413125346
383 I>F No ClinGen
gnomAD
rs1556808138
CA413125360
383 I>M No ClinGen
gnomAD
CA10418780
rs145074661
384 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413125389
rs1191695472
385 N>K No ClinGen
TOPMed
rs1556808142
CA413125405
386 D>H No ClinGen
gnomAD
rs1257310880
CA413125463
388 W>L No ClinGen
TOPMed
CA10418783
rs373147193
393 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782777372
CA10418784
393 R>H No ClinGen
ExAC
gnomAD
rs1556808160
CA413125605
395 Y>D No ClinGen
gnomAD
CA329170526
rs782371895
395 Y>S No ClinGen
gnomAD
CA413125692
rs1556808164
399 R>G No ClinGen
gnomAD
rs782082499
CA10418786
399 R>S No ClinGen
ExAC
gnomAD
rs1556808168
CA413125705
400 G>S No ClinGen
gnomAD
rs782744344
CA10418787
401 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs781788409
CA10418788
402 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 405 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246916510
CA413125779
405 R>K No ClinGen
TOPMed
gnomAD
rs782652162
CA413125814
407 K>E No ClinGen
ExAC
gnomAD
rs782652162
CA10418790
407 K>Q No ClinGen
ExAC
gnomAD
rs1569228559
CA413125840
408 Q>* No ClinGen
Ensembl
rs782488550
CA413125894
410 M>K No ClinGen
ExAC
gnomAD
rs782488550
CA10418792
410 M>T No ClinGen
ExAC
gnomAD
rs1556808185
CA413125881
410 M>V No ClinGen
gnomAD
CA413125919
rs1340777042
411 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 412 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418793
rs782653091
413 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1556808306
CA413126076
414 K>N No ClinGen
gnomAD
CA10418814
rs782251414
414 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA10418815
rs200525147
417 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1556808313
CA413126122
418 R>I No ClinGen
gnomAD
rs1267565173
CA413126150
419 C>Y No ClinGen
TOPMed
gnomAD
CA413126189
rs1602104587
421 V>M No ClinGen
Ensembl
rs1556808320
CA413126248
424 M>V No ClinGen
gnomAD
CA413126275
rs1556808325
425 E>G No ClinGen
gnomAD
CA329170759
rs199605770
425 E>K No ClinGen
gnomAD
rs186095471
CA10418818
426 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10418817
rs782224348
426 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA413126284
rs1489265950
426 D>N No ClinGen
TOPMed
rs782418192
CA10418821
427 A>G No ClinGen
ExAC
gnomAD
CA10418820
rs782148691
427 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA413126322
rs1221166474
428 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 428 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556808336
CA413126341
429 D>E No ClinGen
gnomAD
CA413126354
rs1324285451
430 Y>C No ClinGen
TOPMed
rs1556808344
CA413126404
433 V>A No ClinGen
gnomAD
CA413126396
rs1282801783
433 V>L No ClinGen
TOPMed
rs1222207205
CA413126513
439 E>D No ClinGen
TOPMed
CA10418823
rs782123120
439 E>K No ClinGen
ExAC
gnomAD
TCGA novel 440 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413126574
rs1430398506
443 I>M No ClinGen
TOPMed
rs1290001720
CA413126568
443 I>S No ClinGen
TOPMed
CA413126563
rs1342988999
443 I>V No ClinGen
TOPMed
rs1556808357
CA413126576
444 D>N No ClinGen
gnomAD
TCGA novel 448 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782506300
CA10418829
450 I>M No ClinGen
ExAC
gnomAD
CA413126746
rs1556808374
453 S>F No ClinGen
gnomAD
rs782211234
CA329170803
457 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1556808386
CA413126838
460 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1424197283
CA413126855
461 Y>C No ClinGen
TOPMed
CA10418831
rs781827520
461 Y>D No ClinGen
ExAC
gnomAD
rs985376172
CA329170826
462 F>L No ClinGen
Ensembl
rs782495382
CA10418832
462 F>Y No ClinGen
ExAC
gnomAD
TCGA novel 463 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 464 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418834
rs782190267
468 E>G No ClinGen
ExAC
rs1556808394
CA413126982
471 D>V No ClinGen
gnomAD
COSM613041
CA413127005
rs1556808397
472 I>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs149102271
CA10418835
472 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782676402
CA10418836
473 N>D No ClinGen
ExAC
gnomAD
rs143195586
CA10418837
473 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556808406
CA413127031
474 E>K No ClinGen
gnomAD
TCGA novel 476 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782152487
CA10418839
476 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs962609843
CA329170888
478 D>H No ClinGen
TOPMed
gnomAD
CA413127132
rs962609843
478 D>N No ClinGen
TOPMed
gnomAD
CA10418842
rs148286087
480 E>K No ClinGen
ESP
ExAC
gnomAD
rs782167100
CA10418843
481 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA10418844
rs782765922
482 P>S No ClinGen
ExAC
gnomAD
rs377693568
CA10418845
483 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413127308
rs1556808422
484 H>L No ClinGen
gnomAD
CA413127320
rs1452883994
485 N>D No ClinGen
TOPMed
rs1556808425
CA413127329
485 N>S No ClinGen
gnomAD
rs201683434
CA10418849
489 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556808440
COSM3780513
CA413127438
490 N>S pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1169578163
CA413127454
491 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 492 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10418851
rs140520453
492 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556808447
CA413127498
492 T>S No ClinGen
gnomAD
rs782807185
CA10418852
493 T>I No ClinGen
ExAC
gnomAD
rs782642668
CA10418855
494 D>G No ClinGen
ExAC
gnomAD
CA329171007
rs782705108
495 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs782705108
CA10418857
495 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs375540357
CA10418858
496 N>D No ClinGen
ESP
ExAC
CA413127573
rs1556808459
496 N>S No ClinGen
gnomAD
rs782278185
CA10418860
497 E>K No ClinGen
ExAC
gnomAD
rs138367420
CA329171048
498 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10418861
RCV000961815
rs138367420
498 S>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs781992463
CA10418864
500 D>N No ClinGen
ExAC
gnomAD
CA329171057
rs979846106
501 D>N No ClinGen
gnomAD
COSM1190553
CA10418866
rs782344893
503 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs781969830
CA10418867
504 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1054706191
CA329171065
505 T>A No ClinGen
Ensembl
rs868992844
CA413127789
507 N>D No ClinGen
gnomAD
rs1556808484
CA413127798
507 N>S No ClinGen
gnomAD
rs891589662
CA329171083
508 N>D No ClinGen
TOPMed
gnomAD
TCGA novel 510 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377587714
CA10418869
510 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10418870
rs782072659
512 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA413127935
rs1351587070
514 N>D No ClinGen
TOPMed
gnomAD
TCGA novel 514 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413128000
rs1556808501
516 E>G No ClinGen
gnomAD
CA10418873
rs370449744
516 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413127985
rs370449744
516 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10418874
rs782747918
517 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs782080298
CA10418876
518 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA413128037
rs782080298
518 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs782080298
CA413128040
518 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA413128068
rs868928234
519 E>D No ClinGen
Ensembl
CA413128092
COSM1122912
rs1556808508
521 N>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA10418878
rs146112253
521 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10418879
rs781815242
CA413128130
522 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA413128138
rs1248917220
523 K>E No ClinGen
TOPMed
CA10418880
rs782543175
525 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA413128191
rs1359091165
525 T>I No ClinGen
TOPMed
CA10418882
rs374502411
529 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413128328
rs1556808519
531 N>K No ClinGen
gnomAD
CA413128359
rs1241854521
533 N>D No ClinGen
TOPMed
CA10418884
rs782532031
533 N>K No ClinGen
ExAC
gnomAD
TCGA novel 533 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1028963655
CA329171122
535 N>D No ClinGen
TOPMed
CA413128402
rs887866076
535 N>K No ClinGen
TOPMed
gnomAD
CA413128406
rs1369119886
536 E>K No ClinGen
TOPMed
gnomAD
CA10418885
rs782594117
538 T>I No ClinGen
ExAC
gnomAD
CA10418888
rs367714830
539 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 540 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556808535
CA413128496
540 G>S No ClinGen
gnomAD
CA413128542
rs1404330334
542 N>S No ClinGen
TOPMed
CA413128563
rs1363467745
543 F>Y No ClinGen
TOPMed
gnomAD
rs1006265626
CA329171139
545 K>R No ClinGen
Ensembl
CA413128638
rs879997017
547 G>D No ClinGen
Ensembl
rs1160285011
CA413128635
547 G>S No ClinGen
TOPMed
TCGA novel 548 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782652782
CA10418889
549 W>S No ClinGen
1000Genomes
ExAC
gnomAD
CA413128709
rs1556808560
550 G>D No ClinGen
gnomAD
rs1455511030
CA413128787
553 G>A No ClinGen
TOPMed
rs868986922
CA413128860
556 Q>H No ClinGen
Ensembl
rs781874099
CA329171146
560 D>H No ClinGen
Ensembl
CA413128960
rs1556808575
561 S>G No ClinGen
gnomAD
rs782276508
CA10418890
563 N>S No ClinGen
ExAC
gnomAD
rs1158678572
CA413129042
564 E>D No ClinGen
TOPMed
rs1556808582
CA413129057
565 A>E No ClinGen
gnomAD
CA413129078
rs1431551843
566 D>G No ClinGen
TOPMed
gnomAD
rs1490346927
CA413129273
572 E>D No ClinGen
TOPMed
gnomAD
CA329171159
rs782548409
578 E>K No ClinGen
gnomAD
TCGA novel 579 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329171183
rs371667688
583 G>D No ClinGen
ESP
TOPMed
gnomAD
rs782334662
CA10418897
584 S>T No ClinGen
ExAC
rs1313435123
CA413129604
586 D>G No ClinGen
TOPMed
CA10418898
rs781962409
587 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA329171197
rs782463233
588 G>D No ClinGen
1000Genomes
CA413129660
rs1602105201
589 N>D No ClinGen
Ensembl
CA329171198
rs962228566
589 N>S No ClinGen
TOPMed
gnomAD
CA413129732
rs1556808608
593 N>D No ClinGen
gnomAD
CA10418900
rs782047479
593 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs782799577
CA10418901
595 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs782124596
CA10418904
COSM1122917
597 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1556808619
CA413129826
598 D>Y No ClinGen
gnomAD
CA10418908
rs781824070
600 D>N No ClinGen
ExAC
gnomAD
CA413129913
rs1556808626
603 I>L No ClinGen
gnomAD
rs782480459
CA10418909
604 E>K No ClinGen
ExAC
gnomAD
rs149418485
CA10418912
607 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413130094
rs1556808640
610 I>T No ClinGen
gnomAD
rs375418655
CA413130134
612 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM488455
CA10418915
rs375418655
612 D>Y kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 613 F>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 614 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413130196
rs1556808648
614 D>H No ClinGen
gnomAD
rs782368578
CA10418916
615 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA413130284
rs1261552631
616 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs782300852
CA10418918
619 D>E No ClinGen
ExAC
CA10418919
rs782023215
621 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10418921
rs782382894
623 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10418922
rs782382894
623 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA413130557
rs1569229209
624 I>M No ClinGen
Ensembl
rs1320826290
CA413130531
624 I>V No ClinGen
TOPMed
RCV000513236
CA413130613
rs1556808667
626 I>F No ClinGen
ClinVar
Ensembl
dbSNP
rs782761093
CA10418924
627 I>V No ClinGen
ExAC
gnomAD
rs371990751
CA413130735
629 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10418927
rs782784563
630 E>G No ClinGen
ExAC
rs375123038
CA10418926
630 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375123038
CA413130746
630 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147753284
CA10418929
632 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10418932
rs368159646
637 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781817389
CA10418933
639 E>K No ClinGen
ExAC
gnomAD
CA10418980
rs147373370
640 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs959621239
CA329155878
642 Q>E No ClinGen
TOPMed
CA413098510
rs1602106274
643 Q>R No ClinGen
Ensembl
CA329155879
rs989601893
COSM3844984
645 E>K Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs782342167
CA10418981
646 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs782342167
CA10418982
646 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs145146062
CA10418985
648 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413098565
rs1556809163
651 G>R No ClinGen
gnomAD
rs782115678
CA10418987
653 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA413098583
rs782013838
653 Y>C No ClinGen
ExAC
gnomAD
CA10418986
rs782013838
653 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 655 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263344785
CA413098609
657 G>R No ClinGen
TOPMed
TCGA novel 660 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375981547
CA10418990
663 E>V No ClinGen
ESP
ExAC
gnomAD
CA10418991
rs150975914
664 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413098671
rs1556809182
665 G>E No ClinGen
gnomAD
rs1556809181
CA413098670
665 G>R No ClinGen
gnomAD
CA10418993
rs781811512
668 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA413098694
rs781811512
668 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA10418994
rs369016861
669 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413098702
rs1437283793
670 D>N No ClinGen
TOPMed
gnomAD
rs868919123
CA413098714
671 S>F No ClinGen
Ensembl
rs377270693
CA10418997
677 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781788384
CA10418998
678 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781788384
CA413098775
678 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 681 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782609393
CA10418999
681 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs934271226
CA329155899
682 G>S No ClinGen
TOPMed
gnomAD
CA413098849
rs868980048
684 A>T No ClinGen
Ensembl
rs1050424399
CA329155901
685 N>S No ClinGen
gnomAD
rs370419229
CA10419002
686 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA10419003
rs782276407
686 P>L No ClinGen
ExAC
gnomAD
rs200976056
CA10419004
687 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA413098907
rs782004401
688 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA10419006
rs181418147
689 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782361864
CA10419007
689 R>K No ClinGen
ExAC
gnomAD
rs782361864
CA413098916
689 R>T No ClinGen
ExAC
gnomAD
CA329155915
rs201621148
691 K>E No ClinGen
gnomAD
CA413098959
rs1230959790
692 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 692 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413098961
rs1365995949
693 G>R No ClinGen
TOPMed

No associated diseases with Q9H2G4

No regional properties for Q9H2G4

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9H2G4

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Enriched in transcriptionally active regions of chromatin in neurons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

3 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.
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
rDNA binding Binding to a DNA sequence encoding a ribosomal RNA.

7 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.
negative regulation of cell growth Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
negative regulation of DNA replication Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication.
nucleosome assembly The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
regulation of protein kinase activity Any process that modulates the frequency, rate or extent of protein kinase activity.
regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O19110 TSPY1 Testis-specific Y-encoded protein 1 Bos taurus (Bovine) PR
P0DME0 SETSIP Protein SETSIP Homo sapiens (Human) SS
Q8N831 TSPYL6 Testis-specific Y-encoded-like protein 6 Homo sapiens (Human) PR
Q99457 NAP1L3 Nucleosome assembly protein 1-like 3 Homo sapiens (Human) PR
P55209 NAP1L1 Nucleosome assembly protein 1-like 1 Homo sapiens (Human) PR
Q01534 TSPY1 Testis-specific Y-encoded protein 1 Homo sapiens (Human) PR
P0CV99 TSPY4 Testis-specific Y-encoded protein 4 Homo sapiens (Human) PR
P0CV98 TSPY3 Testis-specific Y-encoded protein 3 Homo sapiens (Human) PR
P0CW00 TSPY8 Testis-specific Y-encoded protein 8 Homo sapiens (Human) PR
P0CW01 TSPY10 Testis-specific Y-encoded protein 10 Homo sapiens (Human) PR
A6NKD2 TSPY2 Testis-specific Y-encoded protein 2 Homo sapiens (Human) PR
Q01105 SET Protein SET Homo sapiens (Human) SS
Q9H489 TSPY26P Putative testis-specific Y-encoded-like protein 3 Homo sapiens (Human) PR
Q9EQU5 Set Protein SET Mus musculus (Mouse) EV
Q63945 Set Protein SET Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MDRPDEGPPA KTRRLSSSES PQRDPPPPPP PPPLLRLPLP PPQQRPRLQE ETEAAQVLAD
70 80 90 100 110 120
MRGVGLGPAL PPPPPYVILE EGGIRAYFTL GAECPGWDST IESGYGEAPP PTESLEALPT
130 140 150 160 170 180
PEASGGSLEI DFQVVQSSSF GGEGALETCS AVGWAPQRLV DPKSKEEAII IVEDEDEDER
190 200 210 220 230 240
ESMRSSRRRR RRRRRKQRKV KRESRERNAE RMESILQALE DIQLDLEAVN IKAGKAFLRL
250 260 270 280 290 300
KRKFIQMRRP FLERRDLIIQ HIPGFWVKAF LNHPRISILI NRRDEDIFRY LTNLQVQDLR
310 320 330 340 350 360
HISMGYKMKL YFQTNPYFTN MVIVKEFQRN RSGRLVSHST PIRWHRGQEP QARRHGNQDA
370 380 390 400 410 420
SHSFFSWFSN HSLPEADRIA EIIKNDLWVN PLRYYLRERG SRIKRKKQEM KKRKTRGRCE
430 440 450 460 470 480
VVIMEDAPDY YAVEDIFSEI SDIDETIHDI KISDFMETTD YFETTDNEIT DINENICDSE
490 500 510 520 530 540
NPDHNEVPNN ETTDNNESAD DHETTDNNES ADDNNENPED NNKNTDDNEE NPNNNENTYG
550 560 570 580 590 600
NNFFKGGFWG SHGNNQDSSD SDNEADEASD DEDNDGNEGD NEGSDDDGNE GDNEGSDDDD
610 620 630 640 650 660
RDIEYYEKVI EDFDKDQADY EDVIEIISDE SVEEEGIEEG IQQDEDIYEE GNYEEEGSED
670 680 690
VWEEGEDSDD SDLEDVLQVP NGWANPGKRG KTG