P11172
PR
Gene name |
UMPS |
Protein name |
Uridine 5'-monophosphate synthase |
Names |
UMP synthase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7372 |
EC number |
2.4.2.10: Pentosyltransferases |
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
63 structures for P11172
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EAW | X-ray | 288 A | A/B | 190-480 | PDB |
| 2JGY | X-ray | 195 A | A/B | 224-479 | PDB |
| 2P1F | X-ray | 176 A | A | 190-480 | PDB |
| 2QCC | X-ray | 185 A | A/B | 224-480 | PDB |
| 2QCD | X-ray | 203 A | A/B | 224-480 | PDB |
| 2QCE | X-ray | 143 A | A | 224-480 | PDB |
| 2QCF | X-ray | 122 A | A | 224-480 | PDB |
| 2QCG | X-ray | 175 A | A/B | 224-480 | PDB |
| 2QCH | X-ray | 195 A | A/B | 224-480 | PDB |
| 2QCL | X-ray | 185 A | A/B | 224-480 | PDB |
| 2QCM | X-ray | 167 A | A | 224-480 | PDB |
| 2QCN | X-ray | 185 A | A/B | 224-480 | PDB |
| 2V30 | X-ray | 200 A | A/B | 224-479 | PDB |
| 2WNS | X-ray | 190 A | A/B | 7-203 | PDB |
| 3BGG | X-ray | 193 A | A | 190-480 | PDB |
| 3BGJ | X-ray | 200 A | A/B | 190-480 | PDB |
| 3BK0 | X-ray | 160 A | A/B | 223-480 | PDB |
| 3BVJ | X-ray | 180 A | A/B | 190-480 | PDB |
| 3DBP | X-ray | 150 A | A/B | 223-480 | PDB |
| 3EWU | X-ray | 160 A | A/B | 224-480 | PDB |
| 3EWW | X-ray | 110 A | A/B | 224-480 | PDB |
| 3EWX | X-ray | 140 A | A | 224-480 | PDB |
| 3EWY | X-ray | 110 A | A | 224-480 | PDB |
| 3EWZ | X-ray | 140 A | A/B/C/D | 224-480 | PDB |
| 3EX1 | X-ray | 140 A | A/B | 224-480 | PDB |
| 3EX2 | X-ray | 155 A | A/B | 224-480 | PDB |
| 3EX3 | X-ray | 145 A | A/B | 224-480 | PDB |
| 3EX4 | X-ray | 124 A | A | 224-480 | PDB |
| 3EX6 | X-ray | 130 A | A/B | 224-480 | PDB |
| 3G3D | X-ray | 170 A | A/B | 190-480 | PDB |
| 3G3M | X-ray | 140 A | A | 223-480 | PDB |
| 3L0K | X-ray | 134 A | A/B | 224-480 | PDB |
| 3L0N | X-ray | 174 A | A/B | 224-480 | PDB |
| 3MI2 | X-ray | 120 A | A/B | 223-480 | PDB |
| 3MO7 | X-ray | 135 A | A | 223-480 | PDB |
| 3MW7 | X-ray | 232 A | A/B | 190-480 | PDB |
| 4HIB | X-ray | 180 A | A/B | 190-480 | PDB |
| 4HKP | X-ray | 175 A | A/B | 190-480 | PDB |
| 6YVK | X-ray | 125 A | A | 224-480 | PDB |
| 6YVL | X-ray | 125 A | A | 224-480 | PDB |
| 6YVM | X-ray | 125 A | A | 224-480 | PDB |
| 6YVN | X-ray | 125 A | A | 224-480 | PDB |
| 6YVO | X-ray | 125 A | A | 224-480 | PDB |
| 6YWT | X-ray | 105 A | A | 224-480 | PDB |
| 6YWU | X-ray | 110 A | A | 224-480 | PDB |
| 6ZWY | X-ray | 100 A | A | 224-480 | PDB |
| 6ZWZ | X-ray | 120 A | A | 224-480 | PDB |
| 6ZX0 | X-ray | 125 A | A | 224-480 | PDB |
| 6ZX1 | X-ray | 100 A | A | 224-480 | PDB |
| 6ZX2 | X-ray | 120 A | A | 224-480 | PDB |
| 6ZX3 | X-ray | 115 A | A | 224-480 | PDB |
| 7AM9 | X-ray | 099 A | A | 224-480 | PDB |
| 7ASQ | X-ray | 095 A | A | 224-480 | PDB |
| 7OQF | X-ray | 105 A | A/B | 224-480 | PDB |
| 7OQI | X-ray | 115 A | A/B | 224-480 | PDB |
| 7OQK | X-ray | 110 A | A/B | 224-480 | PDB |
| 7OQM | X-ray | 105 A | A/B | 224-480 | PDB |
| 7OQN | X-ray | 110 A | A/B | 224-480 | PDB |
| 7OTU | X-ray | 095 A | A | 224-480 | PDB |
| 7OUZ | X-ray | 090 A | A | 224-479 | PDB |
| 7OV0 | X-ray | 095 A | A | 224-480 | PDB |
| 7Q1H | X-ray | 131 A | A | 224-480 | PDB |
| AF-P11172-F1 | Predicted | AlphaFoldDB |
370 variants for P11172
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000360796 rs17843776 RCV000250276 VAR_020614 RCV000529613 CA2581569 |
30 | S>G | Orotic aciduria Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322271 CA83054429 rs1056229313 |
85 | I>T | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000012681 VAR_006807 CA034217 rs121917890 RCV000782231 |
96 | R>G | Orotic aciduria ORAC1; reduced OPRT activity; no effect on ODC activity; reduced OPRT and ODC activities when associated with R-429 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001317886 rs2063509434 |
101 | K>missing | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA121771 RCV000012682 VAR_006808 rs121917892 |
109 | V>G | Orotic aciduria ORAC1; reduced OPRT activity; reduced ODC activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000779380 CA2581654 rs747405574 |
129 | G>* | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001217980 rs757137245 |
150 | I>K | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001420857 rs184856674 CA2581669 RCV000794181 |
167 | G>R | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000086510 RCV000306897 RCV000247148 RCV001522005 CA228193 rs1801019 VAR_006809 |
213 | G>A | Orotic aciduria Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772815894 CA83056018 RCV001234258 |
230 | R>H | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2063529251 RCV001047177 |
235 | R>G | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001150935 CA2581712 rs779077289 COSM445473 RCV002557254 |
271 | D>H | Variant assessed as Somatic; 0.0 impact. Orotic aciduria breast Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2581715 rs140804035 RCV001861206 RCV000366213 |
276 | S>N | Orotic aciduria Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200305064 CA2581718 RCV000814195 RCV000489675 RCV000271631 |
286 | I>N | Orotic aciduria Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs992867962 RCV001326689 |
301 | L>missing | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375535366 CA2581735 RCV000331596 |
318 | I>T | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001144837 rs763246334 CA2581791 |
351 | V>A | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003142149 RCV001213416 CA2581793 RCV002561814 rs202135467 |
355 | Q>K | Orotic aciduria Inborn genetic diseases Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001759903 RCV001144838 CA2581796 rs201332523 |
363 | R>Q | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2581801 RCV001144839 rs541686805 |
373 | S>A | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1344899647 CA354280935 RCV000626243 |
375 | G>S | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2581810 RCV002520075 RCV001340094 rs202158549 RCV000332734 |
386 | A>V | Orotic aciduria Inborn genetic diseases Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2581836 rs547350809 RCV000818701 |
404 | S>F | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000012681 CA034227 RCV000782232 VAR_006810 rs121917891 |
429 | G>R | Orotic aciduria ORAC1; increased OPRT activity; reduced ODC activity; reduced OPRT and ODC activities when associated with G-96 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001146808 rs201516429 CA2581874 |
439 | I>T | Orotic aciduria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001683367 CA2581881 RCV001511402 RCV000318277 rs3772809 VAR_020615 |
446 | I>V | Orotic aciduria Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs928740792 RCV000634547 CA354283719 |
459 | R>G | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001048493 rs2063577921 |
473 | A>missing | Hereditary orotic aciduria, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000722619 rs1229286305 |
1 | M>T | No |
ClinVar dbSNP |
|
|
rs77018024 CA354268138 |
3 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77018024 CA2581548 |
3 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773783685 CA2581552 |
4 | A>D | No |
ClinGen ExAC |
|
|
rs201130807 CA2581551 |
4 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354268179 rs1476281560 |
5 | R>C | No |
ClinGen TOPMed |
|
|
CA354268199 rs1376601503 |
6 | A>E | No |
ClinGen gnomAD |
|
|
CA2581557 rs755295656 |
7 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750138220 CA2581556 |
7 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581559 rs373254902 |
8 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758909199 CA2581560 |
9 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781243005 CA2581564 |
14 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354268352 rs745331136 |
15 | L>P | No |
ClinGen gnomAD |
|
|
rs745331136 CA83049621 |
15 | L>R | No |
ClinGen gnomAD |
|
|
rs1559902035 CA354268544 |
24 | G>V | No |
ClinGen Ensembl |
|
|
CA354268549 rs775203549 |
25 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs775203549 CA2581567 |
25 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354268568 rs1559902050 |
25 | D>V | No |
ClinGen Ensembl |
|
|
CA354268635 rs1579122558 |
29 | K>E | No |
ClinGen Ensembl |
|
|
rs1324581908 CA354268654 |
29 | K>N | No |
ClinGen gnomAD |
|
|
CA2581568 rs749083040 |
29 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2581571 rs761204645 |
33 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1375993395 CA354268764 |
34 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354268776 rs1450171552 |
35 | P>R | No |
ClinGen gnomAD |
|
|
rs1330615318 CA354268784 |
36 | I>V | No |
ClinGen gnomAD |
|
|
rs887702884 CA354268812 |
37 | Y>* | No |
ClinGen gnomAD |
|
|
rs1331924517 CA354268817 |
38 | I>L | No |
ClinGen TOPMed |
|
|
rs1480571861 CA354268856 |
40 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 41 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354268890 rs1157743210 |
42 | G>D | No |
ClinGen gnomAD |
|
|
rs1162492946 CA354268943 |
45 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017481804 CA83049651 |
46 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2581577 rs377329530 |
47 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758859487 CA2581578 |
49 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581579 rs764681146 |
50 | L>V | No |
ClinGen ExAC |
|
|
rs762112305 CA2581618 |
56 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354270903 rs1486034693 |
62 | Q>E | No |
ClinGen gnomAD |
|
|
CA354270963 rs1276602569 |
64 | A>V | No |
ClinGen TOPMed |
|
|
CA354270977 rs1266980340 |
65 | G>D | No |
ClinGen gnomAD |
|
|
rs1217357140 CA354271006 |
66 | I>M | No |
ClinGen TOPMed |
|
|
CA354270998 rs1177208416 |
66 | I>N | No |
ClinGen gnomAD |
|
|
rs1370195838 CA354271082 |
70 | T>A | No |
ClinGen TOPMed |
|
|
rs1579128404 CA354271110 |
70 | T>I | No |
ClinGen Ensembl |
|
|
rs150877812 CA354271130 |
71 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2581624 rs150877812 |
71 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83054405 rs937398940 |
72 | C>F | No |
ClinGen gnomAD |
|
|
CA83054408 rs139433207 |
78 | A>S | No |
ClinGen ESP |
|
|
rs1457681879 CA354271432 |
83 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2581625 rs779037365 |
83 | T>K | No |
ClinGen ExAC |
|
|
rs1173387231 CA354271504 |
86 | C>S | No |
ClinGen TOPMed |
|
|
CA354271514 rs1406432156 |
88 | T>A | No |
ClinGen gnomAD |
|
|
CA354271523 rs1283361697 |
89 | N>S | No |
ClinGen gnomAD |
|
|
rs1349399603 CA354271527 |
90 | Q>K | No |
ClinGen gnomAD |
|
|
CA2581627 rs758179825 |
91 | I>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1286212721 CA354271542 |
92 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA83054431 rs898850809 |
93 | M>L | No |
ClinGen TOPMed |
|
|
CA354271562 rs1220530209 |
95 | I>L | No |
ClinGen gnomAD |
|
|
rs1196123127 CA354271583 |
98 | K>E | No |
ClinGen TOPMed |
|
|
CA354272584 rs1419001064 |
104 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354272595 rs1445544677 |
105 | T>N | No |
ClinGen gnomAD |
|
|
rs1319322427 CA354272627 |
106 | K>N | No |
ClinGen TOPMed |
|
|
rs145382799 CA2581644 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142349403 CA2581645 |
107 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354272698 rs1464761308 |
111 | G>E | No |
ClinGen gnomAD |
|
|
CA2581648 rs745320534 |
113 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2581647 rs781307243 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581649 rs755627001 |
114 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581650 rs779723295 |
115 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579130841 CA354272813 |
118 | T>I | No |
ClinGen Ensembl |
|
|
rs748959954 CA354272863 |
122 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748959954 CA2581651 |
122 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581652 rs772468191 |
127 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354272948 rs1216614255 |
128 | S>G | No |
ClinGen gnomAD |
|
|
CA354272953 rs773499729 |
128 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2581653 rs773499729 |
128 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2581655 rs771381379 |
130 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354273013 rs1462194385 |
132 | V>I | No |
ClinGen gnomAD |
|
|
rs1371770537 CA354273054 |
134 | E>A | No |
ClinGen gnomAD |
|
|
rs972568766 CA83055754 |
134 | E>K | No |
ClinGen TOPMed |
|
|
rs775772479 CA2581659 |
136 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765303650 CA2581658 |
136 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs902801610 CA83055768 |
138 | V>A | No |
ClinGen Ensembl |
|
|
CA354273124 rs1468799953 |
138 | V>F | No |
ClinGen gnomAD |
|
|
CA2581660 rs763032152 |
140 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354273213 rs1166836829 |
142 | E>D | No |
ClinGen TOPMed |
|
|
rs764411795 CA2581661 |
143 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581663 rs757137245 |
150 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2581664 rs767537647 |
151 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA83055815 rs1032511310 |
153 | L>S | No |
ClinGen Ensembl |
|
|
CA354273677 rs144601331 |
160 | K>N | No |
ClinGen ESP |
|
|
CA354273723 rs1323131413 |
162 | K>N | No |
ClinGen gnomAD |
|
|
CA83055822 rs867517427 |
164 | Q>* | No |
ClinGen Ensembl |
|
|
rs368442688 CA2581666 |
165 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354273852 rs1208715904 |
166 | H>P | No |
ClinGen TOPMed |
|
|
CA2581670 COSM1037573 rs536117596 |
169 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs374772684 CA2581671 |
169 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354273965 rs374772684 |
169 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354274030 rs1194387987 |
171 | H>R | No |
ClinGen gnomAD |
|
|
rs551304797 CA2581672 |
173 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112189398 CA83055854 |
174 | C>R | No |
ClinGen Ensembl |
|
|
CA2581673 rs571393202 |
174 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2581674 rs746423223 |
175 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1470241347 CA354274263 |
178 | K>E | No |
ClinGen gnomAD |
|
|
CA2581676 rs775368706 |
178 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354274279 rs775368706 |
178 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354274367 rs1382702090 |
182 | I>F | No |
ClinGen gnomAD |
|
|
COSM3800991 CA354274392 rs1402190366 |
183 | L>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2581677 COSM3660151 rs763120968 |
184 | E>K | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2581678 rs368167887 |
185 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774761291 CA2581679 |
186 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2581680 rs761667236 |
186 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581681 rs767484949 |
187 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2581684 rs766371401 |
194 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354274875 rs1559905099 |
197 | V>M | No |
ClinGen Ensembl |
|
|
CA2581685 rs753239494 |
198 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2581686 rs754533816 |
199 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA354274978 rs754533816 |
199 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753524583 CA83055956 |
203 | E>* | No |
ClinGen Ensembl |
|
|
rs778507698 CA2581687 |
206 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA354275316 rs1295165267 |
206 | F>V | No |
ClinGen TOPMed |
|
|
CA83055979 rs1043308801 |
207 | V>L | No |
ClinGen TOPMed |
|
|
rs1359864809 CA354275385 |
208 | A>P | No |
ClinGen TOPMed |
|
|
CA354275446 rs372076318 |
209 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2581688 rs372076318 |
209 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354275598 rs1361943588 |
213 | G>C | No |
ClinGen gnomAD |
|
|
rs1801019 CA354275612 |
213 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158926475 CA354275709 |
217 | S>P | No |
ClinGen gnomAD |
|
|
rs1364798910 CA354275712 |
217 | S>Y | No |
ClinGen gnomAD |
|
|
CA354275722 rs1433204458 |
218 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581691 rs770155871 |
221 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201672394 CA2581692 |
223 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354275903 rs1390847421 |
223 | K>R | No |
ClinGen gnomAD |
|
|
CA354275928 RCV000760808 rs1559905153 COSM1269748 |
224 | E>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1305025884 CA354275936 |
224 | E>G | No |
ClinGen gnomAD |
|
|
CA2581694 rs148036615 |
227 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83056003 rs941862658 |
228 | G>D | No |
ClinGen Ensembl |
|
|
rs201260688 CA2581695 |
228 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354276090 rs1287432907 |
229 | A>V | No |
ClinGen TOPMed |
|
|
CA354276112 rs772436591 |
230 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2581698 rs772815894 |
230 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772436591 CA2581697 |
230 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558144411 CA2581699 |
234 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961340425 CA83056061 |
236 | I>L | No |
ClinGen TOPMed |
|
|
rs1353678716 CA354276320 |
237 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2581700 rs766204889 |
239 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2581701 rs753854568 |
241 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752220555 CA2581704 |
243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354276556 rs1165269062 |
245 | R>K | No |
ClinGen gnomAD |
|
|
rs1559905214 CA354276599 |
246 | L>F | No |
ClinGen Ensembl |
|
|
CA354276701 rs1386073564 |
248 | Q>R | No |
ClinGen gnomAD |
|
|
CA2581706 rs763842872 |
250 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1339744651 CA354276868 |
252 | T>I | No |
ClinGen TOPMed |
|
|
rs750701221 CA83056106 |
253 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs750701221 CA2581707 |
253 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs756547413 CA2581708 |
253 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354276900 rs1336569957 |
254 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381261320 CA354276967 |
256 | L>P | No |
ClinGen gnomAD |
|
|
rs200421426 CA83056130 |
257 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA354277080 rs1364888051 |
259 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1321944787 CA354277099 |
260 | V>I | No |
ClinGen gnomAD |
|
|
rs371695584 CA2581710 |
262 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249277036 CA354277181 |
263 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755094091 CA2581711 |
265 | E>Q | No |
ClinGen ExAC |
|
|
CA354277349 rs1477247135 |
267 | L>S | No |
ClinGen TOPMed |
|
|
rs999763893 CA83056137 |
270 | A>T | No |
ClinGen Ensembl |
|
|
rs1579131348 CA354277467 |
271 | D>E | No |
ClinGen Ensembl |
|
|
rs748242990 CA2581713 |
271 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs555777379 CA2581714 |
272 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1185171544 CA354277688 |
277 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354277727 rs111660155 |
279 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA83056170 rs111660155 |
279 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354277839 rs1428124574 |
280 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581719 rs200305064 |
286 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83056214 rs1023793634 |
287 | L>S | No |
ClinGen Ensembl |
|
|
CA354278236 rs1337787857 |
290 | F>V | No |
ClinGen gnomAD |
|
|
rs1579131415 RCV000999543 |
291 | T>missing | No |
ClinVar dbSNP |
|
|
CA2581722 rs774945665 |
293 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2581723 rs780388241 |
295 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751261736 CA2581725 |
297 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA83056240 rs763628618 |
297 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763628618 CA2581724 |
297 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581726 rs756427427 |
298 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1437561179 CA354278475 |
299 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1437561179 CA354278472 |
299 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1262013193 CA354278497 |
300 | T>I | No |
ClinGen gnomAD |
|
|
CA354278625 rs1403897947 |
305 | H>R | No |
ClinGen TOPMed |
|
|
CA354278665 rs1205544358 |
306 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1485382477 CA354278728 |
309 | I>L | No |
ClinGen gnomAD |
|
|
CA354278743 rs755476006 |
310 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83056289 rs755476006 |
310 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581729 rs755476006 |
310 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354278805 rs1478299040 |
312 | D>G | No |
ClinGen gnomAD |
|
|
rs758546852 CA2581732 |
313 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM400623 rs375821728 CA2581731 |
313 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs375535366 CA354278920 COSM4152656 |
318 | I>K | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201047833 CA2581734 |
318 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2581736 rs771075296 |
320 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581737 rs776346236 |
323 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1043337299 CA83056356 |
326 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581774 rs753122783 |
329 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440063001 CA354280158 |
332 | K>Q | No |
ClinGen gnomAD |
|
|
rs1272572614 CA354280192 |
333 | I>T | No |
ClinGen gnomAD |
|
|
CA2581776 rs764537229 |
334 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764537229 CA354280206 |
334 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2581777 rs751605285 |
335 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs892413639 CA83057899 |
338 | D>A | No |
ClinGen gnomAD |
|
|
rs574277477 CA2581778 |
338 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs892413639 CA354280313 |
338 | D>G | No |
ClinGen gnomAD |
|
|
rs892413639 CA83057924 |
338 | D>V | No |
ClinGen gnomAD |
|
|
rs781365439 CA2581779 |
339 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1245426490 CA354280349 |
340 | V>I | No |
ClinGen gnomAD |
|
|
rs755892422 CA2581781 |
341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1418389481 CA354280411 |
342 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 343 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354280419 rs1172257692 |
343 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581783 rs374066947 CA2581784 |
344 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2581785 rs374066947 |
344 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83057979 rs1034320411 |
346 | P>L | No |
ClinGen TOPMed |
|
|
CA354280494 rs1241195402 |
347 | G>A | No |
ClinGen TOPMed |
|
|
CA2581790 rs770708854 |
348 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2581789 rs760344158 |
348 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1310535420 CA354280520 |
349 | G>E | No |
ClinGen TOPMed |
|
|
CA354280535 rs1579133556 |
350 | V>A | No |
ClinGen Ensembl |
|
|
rs1323448922 CA354280557 |
352 | K>E | No |
ClinGen gnomAD |
|
|
CA354280581 rs1202392125 |
353 | G>A | No |
ClinGen gnomAD |
|
|
CA354280579 rs1202392125 |
353 | G>D | No |
ClinGen gnomAD |
|
|
CA354280619 CA354280621 rs1192946866 |
357 | V>L | No |
ClinGen gnomAD |
|
|
CA354280719 rs201332523 |
363 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs377750200 CA2581794 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1579133610 CA354280734 |
364 | G>A | No |
ClinGen Ensembl |
|
| rs745667553 | 365 | C>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195203636 CA354280795 |
368 | I>T | No |
ClinGen gnomAD |
|
|
CA83058066 rs971126004 |
368 | I>V | No |
ClinGen TOPMed |
|
|
CA354280813 rs371213776 |
369 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2581798 rs371213776 |
369 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174104527 CA354280831 |
370 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1174104527 CA354280827 |
370 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs957002036 CA83058080 |
371 | M>V | No |
ClinGen TOPMed |
|
|
CA2581800 rs756264147 |
372 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354280893 rs1414777673 |
372 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402156545 CA354280920 |
374 | T>A | No |
ClinGen gnomAD |
|
|
rs1315328645 CA354280951 |
376 | S>T | No |
ClinGen Ensembl |
|
|
CA354281008 rs200929871 |
379 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2581805 rs200929871 |
379 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2581806 rs575088144 |
380 | G>E | No |
ClinGen 1000Genomes ExAC |
|
|
CA354281048 rs1460180126 |
381 | D>A | No |
ClinGen TOPMed |
|
|
CA354281040 rs1262629953 |
381 | D>N | No |
ClinGen TOPMed |
|
|
CA354281047 rs1262629953 |
381 | D>Y | No |
ClinGen TOPMed |
|
|
CA2581807 rs777350640 |
382 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204450021 CA354281104 |
383 | T>A | No |
ClinGen TOPMed |
|
|
CA354281109 rs1204450021 |
383 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 384 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581809 rs770655493 |
384 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs542279845 CA2581830 |
389 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2581829 rs745569237 |
389 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA83059503 rs865825777 |
391 | E>* | No |
ClinGen Ensembl |
|
|
rs375792307 CA2581831 |
392 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83059530 rs568154000 |
396 | F>L | No |
ClinGen 1000Genomes |
|
|
CA2581832 rs201303915 |
398 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA83059549 rs906374318 |
398 | V>F | No |
ClinGen TOPMed |
|
|
CA2581833 rs772521063 |
401 | I>F | No |
ClinGen ExAC |
|
| TCGA novel | 402 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2581834 rs773759117 |
403 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs199644027 CA2581837 |
405 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs199644027 CA354282617 |
405 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759608798 CA2581838 |
405 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765525297 CA2581839 |
406 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354282636 rs1433920554 |
407 | S>N | No |
ClinGen TOPMed |
|
|
CA2581841 rs762887289 |
408 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748785250 CA2581840 |
408 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269820442 CA354282707 |
413 | L>I | No |
ClinGen TOPMed |
|
|
rs751610441 CA2581843 |
415 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1179015329 CA354282751 |
416 | T>I | No |
ClinGen gnomAD |
|
|
rs1055961378 CA83059619 |
417 | P>L | No |
ClinGen Ensembl |
|
|
rs200479810 CA83059646 |
418 | G>A | No |
ClinGen gnomAD |
|
|
rs894921303 CA83059633 |
418 | G>R | No |
ClinGen Ensembl |
|
|
CA354282784 rs1421845314 |
420 | Q>E | No |
ClinGen gnomAD |
|
|
CA83059667 rs770492945 |
421 | L>S | No |
ClinGen Ensembl |
|
|
rs1157537300 CA354282966 |
425 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1157537300 CA354282965 |
425 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA83060555 CA354282981 rs532483375 |
426 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM1418533 rs1385016614 CA354283001 |
428 | L>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA354283056 rs1579138312 |
432 | Y>D | No |
ClinGen Ensembl |
|
|
CA2581869 rs144643225 |
433 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA83060592 rs1021021774 |
433 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2581868 rs144643225 |
433 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778045426 CA2581871 |
434 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2581872 rs747403485 |
436 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757654674 CA2581873 |
437 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1435491360 CA354283152 |
437 | E>G | No |
ClinGen gnomAD |
|
|
CA354283197 rs1363523872 |
439 | I>M | No |
ClinGen gnomAD |
|
|
rs924296211 CA83060632 |
440 | G>D | No |
ClinGen Ensembl |
|
|
CA354283202 rs1418255371 |
440 | G>S | No |
ClinGen gnomAD |
|
|
rs1467984318 CA354283233 |
441 | K>R | No |
ClinGen TOPMed |
|
|
CA2581876 rs373623358 |
442 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354283267 rs138671830 |
442 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2581877 rs138671830 COSM1241877 |
442 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA354283277 rs1314736995 |
443 | G>V | No |
ClinGen TOPMed |
|
|
rs953921302 CA83060644 |
444 | S>C | No |
ClinGen TOPMed |
|
|
rs1316048603 CA354283420 |
447 | I>T | No |
ClinGen gnomAD |
|
|
rs1278382088 CA354283404 |
447 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354283468 rs1221837348 |
449 | V>A | No |
ClinGen gnomAD |
|
|
rs1488768659 CA354283456 |
449 | V>I | No |
ClinGen gnomAD |
|
|
rs1328318120 CA354283487 |
450 | G>D | No |
ClinGen TOPMed |
|
|
COSM1037576 CA354283504 rs773243224 |
451 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2581884 rs773243224 |
451 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1037577 rs760099482 CA2581885 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760099482 CA354283510 |
451 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs765816876 CA2581886 |
452 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2581887 rs753351302 |
454 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160044724 CA354283677 |
457 | A>V | No |
ClinGen TOPMed |
|
|
rs928740792 COSM233715 CA83060692 |
459 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2581891 rs142909683 |
459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142909683 CA2581890 |
459 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83060734 rs551267697 |
461 | E>G | No |
ClinGen 1000Genomes |
|
|
CA83060744 rs1048226306 |
462 | A>T | No |
ClinGen Ensembl |
|
|
CA2581893 rs781541995 |
465 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs672601291 RCV000086514 CA228199 |
470 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746442557 CA2581894 CA2581895 |
472 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354284034 rs1372553460 |
475 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2581897 rs780221249 |
476 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768954324 CA2581899 |
480 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354284342 rs1287997182 |
481 | V>S | No |
ClinGen gnomAD |
1 associated diseases with P11172
[MIM: 258900]: Orotic aciduria 1 (ORAC1)
A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. {ECO:0000269|PubMed:9042911}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. {ECO:0000269|PubMed:9042911}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P11172
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphoribosyltransferase domain | 46 - 175 | IPR000836 |
| domain | Orotidine 5'-phosphate decarboxylase domain | 252 - 466 | IPR001754 |
| domain | Orotate phosphoribosyl transferase domain | 15 - 178 | IPR004467 |
| active_site | Orotidine 5'-phosphate decarboxylase, active site | 309 - 322 | IPR018089 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.2.10 | Pentosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| orotate phosphoribosyltransferase activity | Catalysis of the reaction: orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate. |
| orotidine-5'-phosphate decarboxylase activity | Catalysis of the reaction: H(+) + orotidine 5'-phosphate = CO(2) + UMP. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 'de novo' pyrimidine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases, beginning with the synthesis of a pyrimidine ring from simpler precursors. |
| 'de novo' UMP biosynthetic process | The chemical reactions and pathways resulting in the formation of UMP, uridine monophosphate, starting with the synthesis of (S)-dihydroorotate from bicarbonate; UMP biosynthesis may either occur via reduction by quinone, NAD(+) or oxygen. |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| pyrimidine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. |
| UDP biosynthetic process | The chemical reactions and pathways resulting in the formation of UDP, uridine (5'-)diphosphate. |
| UMP biosynthetic process | The chemical reactions and pathways resulting in the formation of UMP, uridine monophosphate. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVARAALGP | LVTGLYDVQA | FKFGDFVLKS | GLSSPIYIDL | RGIVSRPRLL | SQVADILFQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQNAGISFDT | VCGVPYTALP | LATVICSTNQ | IPMLIRRKET | KDYGTKRLVE | GTINPGETCL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IIEDVVTSGS | SVLETVEVLQ | KEGLKVTDAI | VLLDREQGGK | DKLQAHGIRL | HSVCTLSKML |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EILEQQKKVD | AETVGRVKRF | IQENVFVAAN | HNGSPLSIKE | APKELSFGAR | AELPRIHPVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SKLLRLMQKK | ETNLCLSADV | SLARELLQLA | DALGPSICML | KTHVDILNDF | TLDVMKELIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LAKCHEFLIF | EDRKFADIGN | TVKKQYEGGI | FKIASWADLV | NAHVVPGSGV | VKGLQEVGLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LHRGCLLIAE | MSSTGSLATG | DYTRAAVRMA | EEHSEFVVGF | ISGSRVSMKP | EFLHLTPGVQ |
| 430 | 440 | 450 | 460 | 470 | |
| LEAGGDNLGQ | QYNSPQEVIG | KRGSDIIIVG | RGIISAADRL | EAAEMYRKAA | WEAYLSRLGV |