Q7Z5J1
PR
Gene name |
HSD11B1L (HSD3, SCDR10, SDR26C2) |
Protein name |
Hydroxysteroid 11-beta-dehydrogenase 1-like protein |
Names |
11-beta-hydroxysteroid dehydrogenase type 3, 11-DH3, 11-beta-HSD3, Short chain dehydrogenase/reductase family 26C member 2, Short-chain dehydrogenase/reductase 10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:374875 |
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 Q7Z5J1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z5J1-F1 | Predicted | AlphaFoldDB |
308 variants for Q7Z5J1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1170176637 CA403545148 |
3 | V>A | No |
ClinGen gnomAD |
|
|
CA403545146 rs1464938155 |
3 | V>M | No |
ClinGen gnomAD |
|
|
CA304660270 rs897875755 |
4 | L>P | No |
ClinGen TOPMed |
|
|
CA403545163 rs1429175515 |
6 | L>F | No |
ClinGen gnomAD |
|
|
CA403545162 rs1429175515 |
6 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9113474 rs752208098 |
9 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1405797839 CA403545186 |
10 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443792570 CA403545191 |
11 | A>S | No |
ClinGen TOPMed |
|
|
CA403545192 rs1348063525 |
11 | A>V | No |
ClinGen TOPMed |
|
|
CA9113477 rs749812625 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs771610051 CA403545214 |
14 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113479 rs761542737 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746243674 CA9113480 |
17 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1162451916 CA403545229 |
17 | Y>H | No |
ClinGen TOPMed |
|
|
CA9113481 rs772298551 |
18 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1293323843 CA403545247 |
19 | D>G | No |
ClinGen gnomAD |
|
|
rs549857184 CA9113482 |
20 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304660322 rs1045565158 |
20 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 21 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9113483 rs760751212 |
21 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs888263436 CA304660332 |
23 | D>E | No |
ClinGen Ensembl |
|
|
rs768905891 CA9113502 |
25 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403545310 rs1481430669 |
26 | S>R | No |
ClinGen TOPMed |
|
|
CA403545319 rs1309965316 |
28 | Q>* | No |
ClinGen gnomAD |
|
|
CA403545335 rs1239350302 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs770811587 CA9113506 |
31 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770811587 CA9113505 |
31 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113507 rs759313781 |
31 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs759313781 CA9113508 |
31 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304660393 rs910900705 |
32 | V>G | No |
ClinGen TOPMed |
|
|
CA304660396 rs1010641243 |
34 | L>P | No |
ClinGen Ensembl |
|
|
CA403545363 rs1483902768 |
36 | G>E | No |
ClinGen gnomAD |
|
|
rs775398718 CA9113510 |
37 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763863867 CA9113512 |
38 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9113514 rs756833114 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304660411 rs918523389 |
39 | A>V | No |
ClinGen TOPMed |
|
|
rs765782828 CA9113515 |
41 | V>A | No |
ClinGen ExAC |
|
|
rs1178412535 CA403545387 |
41 | V>I | No |
ClinGen gnomAD |
|
|
CA9113517 rs148042659 |
42 | G>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs750912624 CA9113516 |
44 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs1568299491 CA403545404 |
44 | E>K | No |
ClinGen Ensembl |
|
|
rs200835892 CA9113518 |
48 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200835892 CA304660426 |
48 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1374923316 CA403545447 |
50 | A>T | No |
ClinGen gnomAD |
|
|
CA9113519 rs780249226 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113521 rs535314623 |
51 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304660436 rs781422805 |
51 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113522 rs781422805 |
51 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403545450 rs535314623 |
51 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748156322 CA9113523 |
54 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1254282750 CA403545471 |
55 | H>Y | No |
ClinGen gnomAD |
|
|
CA304660443 rs765889177 |
57 | V>M | No |
ClinGen Ensembl |
|
|
CA403545488 rs1251338895 |
58 | L>F | No |
ClinGen gnomAD |
|
|
CA304660445 rs972061439 |
61 | H>R | No |
ClinGen Ensembl |
|
|
CA9113549 rs780048368 |
71 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926489251 CA304661106 |
71 | G>R | No |
ClinGen TOPMed |
|
|
CA403545842 rs1339976421 |
72 | N>K | No |
ClinGen gnomAD |
|
|
rs917569976 CA304661126 |
73 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs917569976 CA403545846 |
73 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1290421754 CA403545851 |
74 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA304661131 rs1031506693 |
75 | K>N | No |
ClinGen TOPMed |
|
|
rs868354900 CA304661135 |
76 | L>M | No |
ClinGen Ensembl |
|
|
CA304661139 rs866981937 |
78 | A>T | No |
ClinGen Ensembl |
|
|
CA403545898 rs1266010243 |
79 | P>L | No |
ClinGen gnomAD |
|
|
CA403545902 rs1346961542 |
80 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1200999881 CA403545923 |
82 | F>S | No |
ClinGen gnomAD |
|
|
rs776637614 CA9113552 |
83 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183788088 CA403545952 |
85 | A>T | No |
ClinGen gnomAD |
|
|
rs1443044380 CA403545958 |
85 | A>V | No |
ClinGen TOPMed |
|
|
rs1472064163 CA403545960 |
86 | A>T | No |
ClinGen gnomAD |
|
|
rs1181841119 CA403545964 |
86 | A>V | No |
ClinGen gnomAD |
|
|
CA403545972 rs1173639179 |
87 | D>V | No |
ClinGen gnomAD |
|
|
rs1479266250 CA403545970 |
87 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA304661150 rs528046422 |
88 | M>I | No |
ClinGen 1000Genomes |
|
|
rs929073957 CA403546009 |
90 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs929073957 CA304661151 |
90 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403546013 rs1310002782 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403546027 rs1371323740 |
93 | A>T | No |
ClinGen gnomAD |
|
|
CA403546034 rs1409453675 |
93 | A>V | No |
ClinGen gnomAD |
|
|
rs1233773654 CA403546046 |
95 | E>D | No |
ClinGen gnomAD |
|
|
rs551077796 CA9113555 |
95 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403546058 rs1268011441 |
96 | S>I | No |
ClinGen TOPMed |
|
|
rs867847373 CA304661157 |
97 | V>M | No |
ClinGen Ensembl |
|
|
rs1274171988 CA403546142 |
101 | A>T | No |
ClinGen gnomAD |
|
|
rs868331153 CA304661158 |
101 | A>V | No |
ClinGen Ensembl |
|
|
CA9113556 rs762554836 |
102 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA403546192 rs1274753757 |
103 | D>G | No |
ClinGen gnomAD |
|
|
CA9113567 rs759058739 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333125786 CA403547420 |
109 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs945993566 CA304661429 |
111 | L>F | No |
ClinGen Ensembl |
|
|
rs1258381848 CA403547653 |
116 | I>T | No |
ClinGen gnomAD |
|
|
CA403547679 rs768756023 |
117 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113570 rs768756023 |
117 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458604178 CA403547695 |
118 | G>D | No |
ClinGen gnomAD |
|
|
CA403547739 rs1387723392 |
119 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1210719533 CA403547732 |
119 | A>S | No |
ClinGen TOPMed |
|
|
CA403547744 rs1387723392 |
119 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1451557679 CA403547790 |
121 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772922135 CA9113574 |
122 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403547819 rs1379300065 |
122 | G>S | No |
ClinGen gnomAD |
|
|
rs1291046475 CA403547856 |
123 | T>R | No |
ClinGen gnomAD |
|
|
rs983421741 CA304661445 |
124 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9113575 rs762308388 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403547878 rs770458522 |
125 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs770458522 CA9113576 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1214317274 CA403547891 |
125 | A>V | No |
ClinGen gnomAD |
|
|
rs1258332850 CA403547900 |
126 | R>H | No |
ClinGen gnomAD |
|
|
rs760001903 CA9113578 |
127 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255661839 CA403547953 |
128 | P>H | No |
ClinGen gnomAD |
|
|
CA403547987 rs1568301748 |
130 | A>G | No |
ClinGen Ensembl |
|
|
CA304661476 rs991402061 |
130 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403548005 rs1410982013 |
131 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1417190540 CA403548011 |
132 | R>C | No |
ClinGen gnomAD |
|
|
rs1178101834 CA403548014 |
132 | R>H | No |
ClinGen gnomAD |
|
|
rs1416861316 CA403548164 |
137 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9113605 rs573835230 |
139 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750489209 CA9113607 |
140 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA9113606 rs150257776 |
140 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758556104 CA9113608 |
143 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483829020 CA403548344 |
145 | L>Q | No |
ClinGen TOPMed |
|
|
CA304661695 rs201073054 |
146 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9113610 rs752663568 |
146 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403548365 rs1360072918 |
147 | S>P | No |
ClinGen gnomAD |
|
|
rs1230276319 CA403548373 |
147 | S>W | No |
ClinGen gnomAD |
|
|
rs756069021 CA9113611 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403548400 rs1333857029 |
149 | A>T | No |
ClinGen gnomAD |
|
|
CA403548404 rs1302206761 |
149 | A>V | No |
ClinGen TOPMed |
|
|
CA9113612 rs777591577 |
151 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1227587566 CA403548462 |
152 | S>G | No |
ClinGen TOPMed |
|
|
CA304661704 rs991083877 |
153 | L>R | No |
ClinGen TOPMed |
|
|
CA403548500 rs1465292894 |
154 | T>P | No |
ClinGen gnomAD |
|
|
CA9113616 rs745328325 |
157 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs557786197 CA403548625 |
160 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774930617 CA9113618 COSM1001829 COSM1001830 |
161 | V>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774930617 CA403548647 |
161 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1182051586 CA403548643 |
161 | V>L | No |
ClinGen gnomAD |
|
|
rs747520012 CA9113619 |
162 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113620 rs769094826 |
163 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769094826 CA403548672 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9113622 rs145508592 |
164 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284992706 CA403548749 |
168 | G>S | No |
ClinGen gnomAD |
|
|
rs200160626 CA9113651 |
169 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373184843 CA304661784 |
170 | V>A | No |
ClinGen ESP |
|
|
rs1479295822 CA403548837 |
171 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764986364 CA9113654 |
172 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs141267148 CA9113655 |
173 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403548892 rs1486605969 |
174 | F>L | No |
ClinGen gnomAD |
|
|
rs1371463535 CA403548881 |
174 | F>L | No |
ClinGen gnomAD |
|
|
CA403548903 rs1390597541 |
175 | S>C | No |
ClinGen gnomAD |
|
|
CA403548895 rs1444060277 |
175 | S>T | No |
ClinGen TOPMed |
|
|
CA304661805 rs1004790491 |
177 | P>R | No |
ClinGen TOPMed |
|
|
CA403548921 rs757998904 |
177 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113656 rs757998904 |
177 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403548937 rs1332708649 |
178 | Y>C | No |
ClinGen gnomAD |
|
|
rs1302632776 CA403548956 |
179 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA304661821 rs754458782 |
182 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113658 rs751013061 |
182 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs146926014 CA9113660 |
183 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461398135 CA403549057 |
184 | A>T | No |
ClinGen TOPMed |
|
|
CA9113661 rs748660161 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1248886108 CA403549087 |
185 | L>P | No |
ClinGen gnomAD |
|
|
CA403549187 rs1252978548 |
190 | G>D | No |
ClinGen gnomAD |
|
|
CA403549275 rs1170634918 |
195 | E>K | No |
ClinGen gnomAD |
|
|
rs1361763527 CA403549294 |
196 | L>Q | No |
ClinGen TOPMed |
|
|
rs774453035 CA9113667 |
197 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9113668 rs746162710 |
199 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA403549350 rs772044493 |
200 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9113669 rs772044493 |
200 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403549417 rs1368785897 |
204 | A>V | No |
ClinGen gnomAD |
|
|
CA9113671 rs775588057 |
208 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs898839421 CA304661848 |
212 | L>P | No |
ClinGen gnomAD |
|
|
rs761716785 CA9113672 |
213 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1214771188 CA403549493 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304661852 rs995824193 |
215 | R>C | No |
ClinGen Ensembl |
|
|
rs765182780 CA9113673 |
215 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403549514 rs1467530158 |
216 | A>S | No |
ClinGen gnomAD |
|
|
CA403549516 rs1467530158 |
216 | A>T | No |
ClinGen gnomAD |
|
|
CA9113674 rs772953499 |
217 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA304661861 rs546875772 |
219 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs751157788 CA9113678 |
220 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979572712 CA304661864 |
220 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754725834 CA304661869 |
221 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754725834 CA9113679 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766902997 CA9113680 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403549569 rs1383571757 |
223 | R>M | No |
ClinGen gnomAD |
|
|
rs1324006129 CA403549568 |
223 | R>W | No |
ClinGen TOPMed |
|
|
CA403550041 rs1163386756 |
225 | S>* | No |
ClinGen gnomAD |
|
|
rs1384552864 CA403550048 |
226 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403550052 rs1599431772 |
226 | T>M | No |
ClinGen Ensembl |
|
|
CA304661977 rs755013240 |
228 | R>P | No |
ClinGen gnomAD |
|
|
CA403550076 rs763669331 |
229 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403550082 rs1419433751 |
229 | P>L | No |
ClinGen TOPMed |
|
|
CA9113721 rs763669331 |
229 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304661983 rs868612654 |
230 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753440628 CA9113722 |
230 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403550112 rs1313764738 |
232 | P>A | No |
ClinGen gnomAD |
|
|
rs1313764738 CA403550111 |
232 | P>S | No |
ClinGen gnomAD |
|
|
rs1354564384 CA403550134 |
233 | E>D | No |
ClinGen gnomAD |
|
|
CA403550140 rs1599431937 |
234 | H>D | No |
ClinGen Ensembl |
|
|
rs762177710 CA304661993 |
234 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9113723 rs762177710 |
234 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403550165 rs1467553605 |
235 | R>P | No |
ClinGen TOPMed |
|
|
CA304661998 rs1020004431 |
235 | R>W | No |
ClinGen TOPMed |
|
|
CA403550173 rs552868043 |
236 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9113726 rs552868043 |
236 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750688958 CA9113725 |
236 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403550174 rs552868043 |
236 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403550171 rs750688958 |
236 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403550185 rs1599432033 |
237 | V>G | No |
ClinGen Ensembl |
|
|
rs967546045 CA304662003 |
237 | V>M | No |
ClinGen Ensembl |
|
|
CA403550204 rs1349550824 |
238 | P>L | No |
ClinGen gnomAD |
|
|
CA403550197 rs1281550956 |
238 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403550194 rs1281550956 |
238 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211117204 CA403550210 |
239 | L>F | No |
ClinGen gnomAD |
|
|
CA403550244 rs1235048455 |
240 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9113728 rs201052217 |
240 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866790411 CA304662015 |
243 | T>A | No |
ClinGen Ensembl |
|
|
CA403550289 rs1470813497 |
243 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs368644338 CA9113730 |
244 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368644338 CA403550294 |
244 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781227352 CA9113731 |
245 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1346755906 CA403550373 |
247 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403550382 rs1395883532 |
248 | P>L | No |
ClinGen TOPMed |
|
|
CA403550375 rs1156555700 |
248 | P>S | No |
ClinGen TOPMed |
|
|
CA403550376 rs1156555700 |
248 | P>T | No |
ClinGen TOPMed |
|
|
rs371623584 CA9113733 |
250 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403550407 rs1412621896 |
250 | T>S | No |
ClinGen gnomAD |
|
|
CA403550421 rs1330649189 |
252 | P>A | No |
ClinGen gnomAD |
|
|
CA304662027 rs1024343750 |
252 | P>L | No |
ClinGen Ensembl |
|
|
CA403550422 rs1330649189 |
252 | P>S | No |
ClinGen gnomAD |
|
|
CA304662029 rs971803111 |
254 | A>G | No |
ClinGen Ensembl |
|
|
rs1045080688 CA304662033 |
255 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403550521 rs1205011010 |
256 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403550509 rs1441427752 |
256 | T>P | No |
ClinGen gnomAD |
|
|
CA403550525 rs1253003069 |
257 | L>F | No |
ClinGen gnomAD |
|
|
CA403550530 rs1476520491 |
257 | L>P | No |
ClinGen Ensembl |
|
|
rs373687274 CA9113734 |
259 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1001098231 CA304662039 |
260 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1279082814 CA403550575 |
260 | T>I | No |
ClinGen gnomAD |
|
|
rs1001098231 CA403550571 |
260 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs908601951 CA304662042 |
262 | L>V | No |
ClinGen Ensembl |
|
|
CA304662046 rs1052624677 |
264 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403550670 rs1052624677 |
264 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9113735 rs748051957 |
265 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA403550710 rs1328846627 |
266 | P>S | No |
ClinGen TOPMed |
|
|
CA304662052 rs973189838 |
267 | Q>* | No |
ClinGen Ensembl |
|
|
CA403550716 rs1480865346 |
267 | Q>P | No |
ClinGen gnomAD |
|
|
rs868141486 CA304662054 |
268 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1421823482 CA403550724 |
268 | P>L | No |
ClinGen gnomAD |
|
|
rs868141486 CA304662057 |
268 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1438799313 CA403550760 |
270 | M>I | No |
ClinGen gnomAD |
|
|
CA403550768 rs1181699337 |
271 | K>N | No |
ClinGen gnomAD |
|
|
CA403550788 rs1363936754 |
272 | S>* | No |
ClinGen TOPMed |
|
|
rs1008395880 CA304662063 |
272 | S>T | No |
ClinGen TOPMed |
|
|
CA403550800 rs1455636956 |
273 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403550826 rs1171626779 |
275 | Q>P | No |
ClinGen gnomAD |
|
|
CA9113736 rs771990238 |
276 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367791868 CA9113737 |
277 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403550985 rs1456841423 |
279 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1169389497 CA403551011 |
280 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403550997 rs1169389497 |
280 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 283 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403551131 rs1377152533 |
283 | D>V | No |
ClinGen TOPMed |
|
|
CA304662072 rs769857104 |
285 | H>Y | No |
ClinGen Ensembl |
|
|
CA403551246 rs1486197105 |
287 | E>A | No |
ClinGen TOPMed |
|
|
rs1373103477 CA403551242 |
287 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403551270 rs768445779 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9113739 rs768445779 |
288 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA403551278 rs1302093037 |
289 | V>I | No |
ClinGen gnomAD |
|
|
rs530306798 CA304662081 |
290 | T>P | No |
ClinGen 1000Genomes |
|
|
CA9113740 rs183044011 |
292 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403551362 rs1599432636 |
292 | W>L | No |
ClinGen Ensembl |
|
|
rs902910661 CA403551380 |
293 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs902910661 CA304662086 |
293 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs914366504 CA304662092 |
294 | V>G | No |
ClinGen gnomAD |
|
|
CA403551426 rs1470229815 |
295 | Q>E | No |
ClinGen gnomAD |
|
|
rs1470229815 CA403551422 |
295 | Q>K | No |
ClinGen gnomAD |
|
|
rs1599432710 CA403551428 |
295 | Q>P | No |
ClinGen Ensembl |
|
|
rs1599432718 CA403551443 |
296 | V>G | No |
ClinGen Ensembl |
|
|
CA403551446 rs1214341881 |
297 | P>T | No |
ClinGen gnomAD |
|
|
rs566920318 CA9113743 |
298 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566920318 CA403551458 |
298 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431549573 CA403551463 |
298 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403551455 rs566920318 |
298 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9113744 rs763515779 |
299 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403551509 rs1373912440 |
301 | R>C | No |
ClinGen gnomAD |
|
|
rs1033208052 CA304662101 |
303 | C>S | No |
ClinGen gnomAD |
|
|
CA403551544 rs1033208052 |
303 | C>Y | No |
ClinGen gnomAD |
|
|
rs766695241 CA9113745 |
304 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs1401717446 CA403551566 |
305 | G>R | No |
ClinGen TOPMed |
|
|
rs867764533 CA304662105 |
306 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1291073948 CA403551612 |
307 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403551608 rs1220789666 |
307 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403551675 rs3760768 |
310 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403551711 rs1260073165 |
313 | G>R | No |
ClinGen TOPMed |
|
|
CA403551724 rs1325187759 |
314 | H>Y | No |
ClinGen gnomAD |
|
|
CA403551749 rs1391628830 |
315 | D>G | No |
ClinGen gnomAD |
|
|
rs1490528674 CA403551744 |
315 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403551773 rs1227072533 |
316 | D>C | No |
ClinGen gnomAD |
|
|
CA403551764 rs1325488801 |
316 | D>S | No |
ClinGen gnomAD |
No associated diseases with Q7Z5J1
4 regional properties for Q7Z5J1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 66 - 87 | IPR001611-1 |
| repeat | Leucine-rich repeat | 88 - 109 | IPR001611-2 |
| repeat | Leucine-rich repeat | 110 - 131 | IPR001611-3 |
| repeat | Leucine-rich repeat | 132 - 153 | IPR001611-4 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y394 | DHRS7 | Dehydrogenase/reductase SDR family member 7 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKVLLLTGLG | ALFFAYYWDD | NFDPASLQGA | RVLLTGANAG | VGEELAYHYA | RLGSHLVLTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HTEALLQKVV | GNCRKLGAPK | VFYIAADMAS | PEAPESVVQF | ALDKLGGLDY | LVLNHIGGAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGTRARSPQA | TRWLMQVNFV | SYVQLTSRAL | PSLTDSKGSL | VVVSSLLGRV | PTSFSTPYSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKFALDGFFG | SLRRELDVQD | VNVAITMCVL | GLRDRASAAE | AVRSSTSRPR | QPEHRGVPLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SQTAMFLPPT | VPGARTLTET | PLRGWPQPKM | KSSRQKSKTE | KNDGHLEPVT | AWEVQVPRVR |
| 310 | |||||
| RLCRGLARPH | LFGHD |