Q16342
Gene name |
PDCD2 (RP8, ZMYND7) |
Protein name |
Programmed cell death protein 2 |
Names |
Zinc finger MYND domain-containing protein 7, Zinc finger protein Rp-8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5134 |
EC number |
|
Protein Class |
|
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 Q16342
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16342-F1 | Predicted | AlphaFoldDB |
321 variants for Q16342
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1307165418 CA366525004 |
3 | A>S | No |
ClinGen TOPMed |
|
|
CA366525001 rs1320743862 |
3 | A>V | No |
ClinGen TOPMed |
|
|
rs896978485 CA152244560 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366524992 rs1485423285 |
5 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366524995 CA152244556 rs1041184596 |
5 | G>R | No |
ClinGen TOPMed |
|
|
rs1485423285 CA366524991 |
5 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366524994 rs1041184596 |
5 | G>W | No |
ClinGen TOPMed |
|
|
rs1050200789 CA366524988 |
6 | A>D | No |
ClinGen gnomAD |
|
|
CA152244531 rs567261750 |
6 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA152244519 rs1050200789 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA366524986 rs1226551155 |
7 | R>G | No |
ClinGen gnomAD |
|
|
rs1338569072 CA366524982 |
7 | R>K | No |
ClinGen gnomAD |
|
|
rs1280145723 CA366524980 |
7 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA152244513 rs1030294600 |
9 | V>G | No |
ClinGen TOPMed |
|
|
CA366524973 rs1345115305 |
9 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1407451272 CA366524959 |
11 | L>V | No |
ClinGen gnomAD |
|
|
rs548662103 CA4108871 |
13 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152244503 rs548662103 |
13 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559964311 CA152244498 |
16 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA152244494 rs966876881 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366524894 rs1329800914 |
21 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1329800914 CA366524896 |
21 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1172183055 CA366524888 |
23 | R>S | No |
ClinGen gnomAD |
|
|
rs1298385056 CA366524881 |
24 | S>G | No |
ClinGen gnomAD |
|
|
CA366524879 rs1383090409 |
24 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1477821867 CA366524872 |
25 | E>* | No |
ClinGen gnomAD |
|
|
CA152244485 rs886642134 |
25 | E>G | No |
ClinGen TOPMed |
|
|
CA366524873 rs1477821867 |
25 | E>Q | No |
ClinGen gnomAD |
|
|
rs1245781109 CA366524865 |
26 | Q>* | No |
ClinGen gnomAD |
|
|
CA366524858 rs1384725059 |
27 | F>L | No |
ClinGen gnomAD |
|
|
rs1583146611 CA366524847 |
28 | P>L | No |
ClinGen Ensembl |
|
|
rs773036976 CA152244479 |
28 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs545103128 CA152244472 |
29 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1485404994 CA366524833 |
30 | K>N | No |
ClinGen TOPMed |
|
|
rs1315976333 CA366524817 |
33 | G>W | No |
ClinGen gnomAD |
|
|
rs1001626835 CA366524810 |
34 | R>L | No |
ClinGen TOPMed |
|
|
rs1001626835 CA152244471 |
34 | R>P | No |
ClinGen TOPMed |
|
|
CA366524812 rs1260153564 |
34 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA366524792 rs1412114104 |
37 | W>* | No |
ClinGen TOPMed |
|
|
CA152244465 rs907429950 |
38 | L>Q | No |
ClinGen TOPMed |
|
|
rs769150716 CA4108869 |
40 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4108868 rs749670057 |
42 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947729536 CA152244438 |
43 | L>P | No |
ClinGen TOPMed |
|
|
rs916232780 CA152244432 |
44 | P>A | No |
ClinGen TOPMed |
|
|
CA4108866 rs755759947 |
45 | G>R | No |
ClinGen ExAC |
|
|
CA366524743 rs1583146478 |
46 | P>L | No |
ClinGen Ensembl |
|
|
CA366524740 rs1445298245 |
47 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1403087872 CA366524729 |
48 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366524727 rs1260727509 |
49 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4108860 rs763817884 |
51 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs757144594 CA4108863 |
51 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs763817884 CA4108861 |
51 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA4108862 rs757144594 |
51 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762795976 CA366524691 |
55 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762795976 CA4108859 |
55 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61756020 CA4108857 |
57 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366524643 rs562369624 |
62 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221204520 CA366524623 |
63 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1221204520 CA366524622 |
63 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366524609 rs1279113436 |
64 | V>G | No |
ClinGen gnomAD |
|
|
CA152244337 rs1040903779 |
64 | V>L | No |
ClinGen gnomAD |
|
|
CA152244330 rs954647065 |
66 | A>T | No |
ClinGen TOPMed |
|
|
CA366524568 rs1238443523 |
66 | A>V | No |
ClinGen gnomAD |
|
|
CA4108852 rs774982075 |
67 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774982075 CA366524554 |
67 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366524530 rs74482927 |
69 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000965744 CA4108850 rs74482927 |
69 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs889888884 CA152244286 |
69 | P>S | No |
ClinGen TOPMed |
|
|
CA4108848 rs769437764 |
70 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4108847 rs745536645 |
71 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366524482 rs1179227419 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs1235865501 CA366524471 |
73 | D>N | No |
ClinGen gnomAD |
|
|
CA366524449 rs1285600261 |
74 | A>G | No |
ClinGen gnomAD |
|
|
rs756772582 CA4108845 |
74 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756772582 CA366524456 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216934637 CA366524439 |
75 | F>S | No |
ClinGen TOPMed |
|
|
rs1252833014 CA366524427 |
76 | H>Y | No |
ClinGen TOPMed |
|
|
rs751128316 CA4108844 |
78 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4108843 rs777682956 |
78 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1245961743 CA366524368 |
79 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4108842 rs555642254 |
79 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286403781 CA366524304 |
82 | F>S | No |
ClinGen gnomAD |
|
|
CA366524235 rs1417451255 |
85 | R>H | No |
ClinGen gnomAD |
|
|
rs750683402 CA4108838 |
87 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs11557807 CA152244188 |
87 | Q>H | No |
ClinGen Ensembl |
|
|
rs117413937 CA4108836 |
88 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117413937 CA366524144 |
88 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200184000 CA4108837 |
88 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366524158 rs200184000 |
88 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311899321 CA366524096 |
90 | C>Y | No |
ClinGen gnomAD |
|
|
CA4108834 rs764637050 |
92 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763390393 CA4108833 |
94 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148653243 CA4108800 |
95 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366523634 rs749064967 |
96 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749064967 CA4108799 |
96 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs146332925 CA4108798 |
97 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751833442 CA4108796 |
99 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366523524 rs1397364784 |
101 | P>R | No |
ClinGen gnomAD |
|
|
CA366523542 rs1448863958 |
101 | P>S | No |
ClinGen gnomAD |
|
|
rs1302325047 CA366523522 |
102 | R>G | No |
ClinGen gnomAD |
|
|
CA4108794 rs758393282 |
103 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152243349 rs921145029 |
104 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA152243327 rs901575261 |
105 | D>A | No |
ClinGen TOPMed |
|
|
CA4108792 rs367868951 |
105 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367868951 CA4108793 |
105 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152243321 rs1038856281 |
108 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1305779691 CA366523378 |
109 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152243310 rs867256439 |
111 | P>T | No |
ClinGen Ensembl |
|
|
CA4108790 rs535353957 |
112 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535353957 CA4108789 |
112 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239540021 CA366523319 |
113 | S>P | No |
ClinGen TOPMed |
|
|
CA366523271 rs1440831997 |
115 | N>S | No |
ClinGen gnomAD |
|
|
CA4108787 rs772756754 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs76108444 CA152243275 |
116 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1481955116 CA366523243 |
117 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA152243271 rs551395095 |
118 | P>A | No |
ClinGen 1000Genomes |
|
|
CA366523223 rs1562370505 |
118 | P>Q | No |
ClinGen Ensembl |
|
|
CA366523158 rs1352769463 |
122 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1049488537 CA152243224 |
123 | S>P | No |
ClinGen TOPMed |
|
|
rs768662184 CA4108783 |
124 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs929231855 CA366523122 |
124 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs929231855 CA152243208 |
124 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4108782 rs749267353 |
125 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1583144836 CA366523072 |
126 | L>F | No |
ClinGen Ensembl |
|
|
CA366523015 rs1432424578 |
130 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779926843 CA4108781 |
131 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313755379 CA366522966 |
133 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4108780 rs769722657 |
135 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs568563523 CA4108779 |
136 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1268256320 CA366522914 |
136 | R>S | No |
ClinGen TOPMed |
|
|
CA366522887 rs1420620795 |
138 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445425021 CA366522855 |
140 | C>R | No |
ClinGen gnomAD |
|
|
CA4108775 rs752697924 |
140 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA4108774 rs779072921 CA366522829 |
141 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108772 rs754349565 |
141 | L>F | No |
ClinGen ExAC |
|
|
CA366522827 rs779072921 |
141 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766675033 CA4108771 |
142 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366522790 rs1188277838 |
142 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767050564 CA4108769 |
143 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767050564 CA4108768 |
143 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761545534 CA4108767 |
144 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366522769 COSM1219910 rs1562370339 |
144 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1215519732 CA366522743 |
145 | T>M | No |
ClinGen TOPMed |
|
|
CA4108766 rs372293466 |
146 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366522695 rs372293466 |
146 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4108763 rs149555889 |
147 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762924182 CA4108764 |
147 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366522663 rs1393911522 |
148 | R>K | No |
ClinGen TOPMed |
|
|
rs1399700138 CA366522583 |
151 | K>E | No |
ClinGen gnomAD |
|
|
rs1338717671 CA366522581 |
151 | K>T | No |
ClinGen gnomAD |
|
|
rs1416865111 CA366522553 |
152 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368569104 CA4108761 |
152 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4108760 rs368569104 |
152 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416865111 CA366522550 |
152 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748435640 CA4108758 |
153 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1459879826 CA366522461 |
156 | S>G | No |
ClinGen gnomAD |
|
|
rs1419466134 CA366522445 |
157 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315925712 CA366522394 |
158 | E>D | No |
ClinGen TOPMed |
|
|
rs1390590960 CA366522370 |
159 | H>N | No |
ClinGen TOPMed |
|
|
CA366522366 rs1435676056 |
159 | H>R | No |
ClinGen TOPMed |
|
|
rs778899901 CA4108757 |
160 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs375620318 CA366522319 |
161 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs375620318 CA152243067 |
161 | T>N | No |
ClinGen ESP gnomAD |
|
|
rs1447401472 CA366522274 |
163 | D>E | No |
ClinGen gnomAD |
|
|
CA4108755 rs753980808 |
164 | W>* | No |
ClinGen ExAC |
|
|
rs1583144521 CA366522249 |
164 | W>* | No |
ClinGen Ensembl |
|
|
CA152243058 rs780538358 |
165 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4108754 rs780538358 |
165 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756658704 CA4108753 |
168 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750701272 CA4108752 |
169 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108750 rs756790601 |
171 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366522176 rs1280368921 |
172 | C>S | No |
ClinGen gnomAD |
|
|
CA366522171 rs1228389140 |
173 | A>T | No |
ClinGen gnomAD |
|
|
CA4108749 rs772263336 |
173 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395423021 CA366521982 |
177 | H>Y | No |
ClinGen gnomAD |
|
|
CA366521963 rs1437734028 |
179 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366521960 rs1234744113 |
180 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 184 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366521932 rs1276804074 |
184 | D>N | No |
ClinGen gnomAD |
|
|
rs776651392 CA4108722 |
186 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4108721 rs766274052 |
186 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778255010 CA152242624 |
187 | F>S | No |
ClinGen Ensembl |
|
|
CA366521904 rs773053732 |
188 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773053732 CA4108719 |
188 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108718 rs375838507 |
189 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs932358258 CA152242577 |
190 | P>L | No |
ClinGen Ensembl |
|
|
CA4108716 rs577424007 |
190 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558824933 CA4108714 |
194 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373202680 CA4108713 |
195 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152242543 rs781338071 |
198 | T>A | No |
ClinGen Ensembl |
|
|
rs757772974 CA4108712 |
200 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4108710 rs778296317 CA4108709 |
201 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4108707 rs758056878 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA366521786 rs1471933080 |
205 | E>D | No |
ClinGen Ensembl |
|
|
rs752427699 CA4108706 |
206 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754486906 CA4108704 |
207 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA366521740 rs1214921989 |
212 | Y>D | No |
ClinGen gnomAD |
|
|
rs899489150 CA152242508 |
214 | E>G | No |
ClinGen Ensembl |
|
|
CA4108702 rs753325570 |
214 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760583517 CA4108700 |
218 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108699 CA152242484 rs192662962 |
218 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4108698 rs767335031 |
219 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1312340714 CA366521368 |
220 | G>A | No |
ClinGen TOPMed |
|
|
CA152242478 rs946628632 |
220 | G>S | No |
ClinGen gnomAD |
|
|
CA152240150 rs949889673 |
221 | E>* | No |
ClinGen Ensembl |
|
|
rs917342588 CA152240148 |
221 | E>A | No |
ClinGen Ensembl |
|
|
rs1413154881 CA366521355 |
222 | A>V | No |
ClinGen gnomAD |
|
|
CA4108668 rs779199451 |
223 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439612570 CA366521331 |
226 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs138337157 CA4108665 |
226 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1479429105 CA366521324 |
227 | L>P | No |
ClinGen TOPMed |
|
|
CA4108664 rs150472476 |
227 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4108662 rs745426165 |
230 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs376751655 CA4108663 |
230 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141160861 CA4108661 |
232 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366521284 rs1345526917 |
233 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4108660 rs757244867 |
234 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs56926064 CA4108659 |
235 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs56926064 CA152240116 |
235 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366521269 rs1376069332 |
236 | R>G | No |
ClinGen gnomAD |
|
|
CA366521266 rs1304710615 |
236 | R>T | No |
ClinGen gnomAD |
|
|
CA366521259 rs1358945679 |
237 | E>G | No |
ClinGen TOPMed |
|
|
CA152240113 rs951618288 |
237 | E>K | No |
ClinGen Ensembl |
|
|
CA366521232 rs1562367423 |
241 | F>I | No |
ClinGen Ensembl |
|
|
CA4108658 rs763802273 |
242 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202247759 CA366521222 |
242 | Q>P | No |
ClinGen gnomAD |
|
|
CA152240107 rs202247759 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
CA4108657 rs755188301 |
243 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302531250 CA366521215 |
243 | K>R | No |
ClinGen gnomAD |
|
|
CA366521206 rs1377713500 |
244 | F>C | No |
ClinGen gnomAD |
|
|
rs1174656150 CA366521194 |
246 | T>A | No |
ClinGen gnomAD |
|
|
CA4108655 rs766755961 |
247 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754029431 CA4108656 |
247 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366521168 rs1420394608 |
250 | L>F | No |
ClinGen gnomAD |
|
|
rs1250587686 CA366521164 |
251 | E>K | No |
ClinGen gnomAD |
|
|
CA4108653 rs760804113 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA366521142 rs1562367356 |
254 | Q>E | No |
ClinGen Ensembl |
|
|
CA366521139 rs1484407566 |
254 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1293945573 CA366520865 |
256 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366520829 rs1562366728 |
261 | G>A | No |
ClinGen Ensembl |
|
|
rs774703417 CA4108632 |
261 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764705175 CA4108628 |
263 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366520812 rs1390450965 |
264 | P>L | No |
ClinGen gnomAD |
|
|
rs763226032 CA4108627 |
265 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA152239304 rs912946476 |
265 | I>T | No |
ClinGen Ensembl |
|
|
CA4108625 rs769380262 |
266 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152239303 rs775892587 |
266 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775892587 CA4108626 |
266 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421953451 CA366520782 |
269 | G>D | No |
ClinGen TOPMed |
|
|
CA4108623 rs776080602 |
270 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108622 rs140553523 |
271 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140573137 CA4108621 |
275 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366520740 rs140573137 |
275 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4108620 rs777538268 |
277 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA366520725 rs777538268 |
277 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1469953913 CA366520718 |
278 | I>N | No |
ClinGen gnomAD |
|
|
rs1252067185 CA366520711 |
279 | P>L | No |
ClinGen gnomAD |
|
|
rs747878373 CA4108618 |
280 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs772112538 CA4108619 |
280 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772112538 CA366520708 |
280 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772112538 CA366520707 |
280 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331074417 CA366520662 |
286 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4108578 rs774403635 |
294 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366520533 rs1459366462 |
294 | M>T | No |
ClinGen TOPMed |
|
|
CA366520515 rs1301151559 |
296 | Q>H | No |
ClinGen gnomAD |
|
|
CA366520513 rs1444475662 |
297 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1185276783 CA366520505 |
298 | L>P | No |
ClinGen gnomAD |
|
|
CA4108576 rs749084257 |
303 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140493653 CA366520459 |
305 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152238433 rs140493653 |
305 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140493653 COSM595314 CA4108574 |
305 | R>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs977638677 CA152238428 |
306 | L>V | No |
ClinGen TOPMed |
|
|
CA366520449 rs1214939626 |
307 | G>D | No |
ClinGen gnomAD |
|
|
rs1231454593 CA366520435 |
309 | S>N | No |
ClinGen TOPMed |
|
|
CA366520430 rs1401572089 |
310 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747287336 CA4108573 |
312 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1364033868 CA366520409 |
312 | W>C | No |
ClinGen gnomAD |
|
|
CA366520404 rs1270508409 |
313 | G>D | No |
ClinGen gnomAD |
|
|
rs913520846 CA152238421 |
315 | L>Q | No |
ClinGen TOPMed |
|
|
CA366520393 rs1562365999 |
315 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 316 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 316 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439910012 CA366520384 |
317 | V>I | No |
ClinGen TOPMed |
|
|
rs146748595 CA152238420 |
319 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1583138420 CA366520360 |
320 | C>* | No |
ClinGen Ensembl |
|
|
rs377003096 CA4108570 |
320 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4108571 rs377003096 |
320 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152238404 rs975865539 |
321 | A>G | No |
ClinGen TOPMed |
|
|
CA4108569 rs373713795 |
322 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366520329 rs1477231650 |
325 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 327 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366520295 rs1583138403 |
327 | G>D | No |
ClinGen Ensembl |
|
|
rs755535884 CA4108568 |
330 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754140920 CA4108567 |
331 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA366520247 rs1168476894 |
332 | E>* | No |
ClinGen gnomAD |
|
|
CA366520203 rs766767936 |
334 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766767936 CA366520199 |
334 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108566 rs766767936 |
334 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755678073 CA4108565 |
337 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA366520145 rs1452965779 |
338 | Q>* | No |
ClinGen gnomAD |
|
|
rs1255357725 CA366520117 |
340 | V>I | No |
ClinGen gnomAD |
|
|
rs1237445612 CA366520081 |
342 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs188661022 CA4108563 |
342 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372458890 CA4108561 |
343 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372458890 CA152238361 |
343 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142102398 CA4108558 |
344 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4108559 rs768179250 |
344 | P>R* | No |
ClinGen ExAC |
|
|
rs774065733 CA4108560 |
344 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4108554 rs769654228 |
345 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q16342
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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 |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of hematopoietic stem cell proliferation | Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation. |
| regulation of hematopoietic progenitor cell differentiation | Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2YDC9 | PDCD2 | Programmed cell death protein 2 | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAGARPVE | LGFAESAPAW | RLRSEQFPSK | VGGRPAWLGA | AGLPGPQALA | CELCGRPLSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLQVYAPLPG | RPDAFHRCIF | LFCCREQPCC | AGLRVFRNQL | PRKNDFYSYE | PPSENPPPET |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GESVCLQLKS | GAHLCRVCGC | LGPKTCSRCH | KAYYCSKEHQ | TLDWRLGHKQ | ACAQPDHLDH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IIPDHNFLFP | EFEIVIETED | EIMPEVVEKE | DYSEIIGSMG | EALEEELDSM | AKHESREDKI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FQKFKTQIAL | EPEQILRYGR | GIAPIWISGE | NIPQEKDIPD | CPCGAKRILE | FQVMPQLLNY |
| 310 | 320 | 330 | 340 | ||
| LKADRLGKSI | DWGILAVFTC | AESCSLGTGY | TEEFVWKQDV | TDTP |