Q9NR45
PR
Gene name |
NANS (SAS) |
Protein name |
Sialic acid synthase |
Names |
N-acetylneuraminate synthase, N-acetylneuraminate-9-phosphate synthase, N-acetylneuraminic acid phosphate synthase, N-acetylneuraminic acid synthase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54187 |
EC number |
2.5.1.56: Transferring alkyl or aryl groups, other than methyl groups |
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
2 structures for Q9NR45
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WVO | NMR | - | A | 294-359 | PDB |
| AF-Q9NR45-F1 | Predicted | AlphaFoldDB |
321 variants for Q9NR45
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000999186 rs369033671 RCV002226750 |
1 | M>V | Spondyloepimetaphyseal dysplasia, Genevieve type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374193224 rs1277263564 VAR_076571 |
29 | H>N | SEMDG [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV000224496 rs878853267 |
131 | K>missing | Spondyloepimetaphyseal dysplasia, Genevieve type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000224713 rs878852980 CA10581238 VAR_076572 |
133 | G>V | Spondyloepimetaphyseal dysplasia, Genevieve type SEMDG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs140402727 RCV000224301 COSM1464344 RCV001731533 CA10581237 RCV002516217 VAR_076573 |
151 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Spondyloepimetaphyseal dysplasia, Genevieve type SEMDG [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10581240 RCV000224249 rs878852981 VAR_076574 |
188 | Y>H | Spondyloepimetaphyseal dysplasia, Genevieve type SEMDG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_076575 CA196767907 rs1024025721 |
189 | P>L | SEMDG [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA5150353 rs745594354 RCV002247147 |
203 | Y>H | Spondyloepimetaphyseal dysplasia, Genevieve type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000224653 VAR_076576 CA10581241 rs878852982 |
237 | R>C | Spondyloepimetaphyseal dysplasia, Genevieve type SEMDG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000224852 RCV001854772 rs878853268 |
327 | I>missing | Spondyloepimetaphyseal dysplasia, Genevieve type [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076577 | 327 | I>II | SEMDG [UniProt] | Yes | UniProt |
|
rs745376822 CA5150143 |
2 | P>S | No |
ClinGen ExAC |
|
|
rs141699820 CA374192956 |
3 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141699820 CA5150145 |
3 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA196760954 rs937993978 |
4 | E>G | No |
ClinGen TOPMed |
|
|
rs1347205538 CA374193007 |
6 | E>G | No |
ClinGen gnomAD |
|
|
rs1157147082 CA374193004 |
6 | E>K | No |
ClinGen gnomAD |
|
|
rs1157147082 CA374192997 |
6 | E>Q | No |
ClinGen gnomAD |
|
|
rs544262885 CA196760957 |
7 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5150147 rs760344751 |
9 | P>S | No |
ClinGen ExAC |
|
|
CA374193068 rs1455036524 |
11 | R>H | No |
ClinGen gnomAD |
|
|
COSM455020 CA374193083 rs1209933662 |
12 | W>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1316408115 CA374193073 |
12 | W>G | No |
ClinGen gnomAD |
|
|
rs776406527 CA5150149 |
13 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281636284 CA374193107 |
14 | G>R | No |
ClinGen gnomAD |
|
|
rs766439136 CA5150152 |
15 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766439136 CA5150151 |
15 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767597953 CA5150154 |
16 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5150155 rs368286579 |
18 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000903043 CA5150157 rs139706489 |
18 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs139706489 CA374193152 |
18 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368286579 CA5150156 |
18 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401497986 CA374193159 |
19 | C>* | No |
ClinGen gnomAD |
|
|
CA374193158 rs1410350331 |
19 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs757772678 CA5150159 |
23 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1404330921 CA374193183 |
23 | A>T | No |
ClinGen gnomAD |
|
|
rs866659432 CA374193206 |
26 | G>A | No |
ClinGen gnomAD |
|
|
rs866659432 CA196761007 |
26 | G>D | No |
ClinGen gnomAD |
|
|
rs1390025668 CA374193210 |
27 | Q>* | No |
ClinGen TOPMed |
|
|
CA374193214 rs1376839475 |
27 | Q>H | No |
ClinGen gnomAD |
|
|
CA374193222 rs1440756557 |
28 | N>K | No |
ClinGen gnomAD |
|
|
rs1277263564 CA374193226 |
29 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1374957790 CA374193233 |
30 | Q>* | No |
ClinGen gnomAD |
|
|
CA374193251 rs1321105989 |
32 | D>G | No |
ClinGen gnomAD |
|
|
rs1282288505 CA374193247 |
32 | D>Y | No |
ClinGen gnomAD |
|
|
CA196761010 rs1017453701 |
33 | L>P | No |
ClinGen Ensembl |
|
|
CA5150162 rs3739670 |
34 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374193262 rs1158929028 |
34 | D>G | No |
ClinGen TOPMed |
|
|
rs1412949951 CA374193259 |
34 | D>H | No |
ClinGen TOPMed |
|
|
rs540341211 CA5150163 |
35 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1187782 CA374193265 rs1437172673 |
35 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1470578987 CA374193273 |
36 | A>D | No |
ClinGen gnomAD |
|
|
CA374193275 rs1470578987 |
36 | A>V | No |
ClinGen gnomAD |
|
|
CA374193276 rs1484305778 |
37 | K>Q | No |
ClinGen gnomAD |
|
|
CA5150165 rs768320257 |
38 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5150164 rs746720794 |
38 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761597906 CA5150168 |
41 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773169954 CA5150169 |
41 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773169954 CA5150170 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150167 rs761597906 |
41 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408701618 CA374193308 |
42 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5150172 rs752851244 |
44 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531851509 CA5150196 |
46 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531851509 CA196762407 |
46 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196762411 rs868859491 |
47 | G>E | No |
ClinGen Ensembl |
|
|
CA374194009 rs1261338737 |
48 | A>T | No |
ClinGen gnomAD |
|
|
rs1260439502 CA374194056 |
50 | C>G | No |
ClinGen TOPMed |
|
|
CA374194053 rs1260439502 |
50 | C>S | No |
ClinGen TOPMed |
|
|
CA5150197 rs754144469 |
50 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1243137403 CA374194095 |
52 | K>E | No |
ClinGen gnomAD |
|
|
rs149847360 CA196762417 |
54 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs1369832319 CA374194276 |
59 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750949025 CA5150200 |
61 | K>N | No |
ClinGen ExAC |
|
|
rs1309111736 CA374194328 |
61 | K>Q | No |
ClinGen TOPMed |
|
|
CA5150199 rs765743972 |
61 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759008701 CA5150201 |
63 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5150203 rs149077735 |
64 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5150204 rs145469363 |
64 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5150202 rs149077735 |
64 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA196762436 rs753192309 |
66 | A>G | No |
ClinGen Ensembl |
|
|
CA5150205 rs375797722 |
67 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5150206 rs375797722 |
67 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5150208 rs1058446 CA5150207 VAR_013308 |
68 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs1034613225 CA196762449 |
69 | R>S | No |
ClinGen gnomAD |
|
|
rs1320047324 CA374194496 |
70 | P>L | No |
ClinGen gnomAD |
|
|
CA374194522 rs1312887960 |
71 | Y>* | No |
ClinGen gnomAD |
|
|
rs770845183 CA5150210 |
71 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385033253 CA374194540 |
72 | T>N | No |
ClinGen gnomAD |
|
|
CA5150211 rs774179344 |
73 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5150212 rs774179344 |
73 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA5150214 rs776970854 |
74 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs973832963 CA196762468 |
75 | H>R | No |
ClinGen TOPMed |
|
|
CA374194637 rs1357421733 |
76 | S>P | No |
ClinGen gnomAD |
|
|
CA5150216 rs765688605 |
77 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1215963034 COSM3382378 CA374194651 |
77 | W>R | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 79 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150217 rs773554497 |
80 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs370013075 CA196762490 CA5150220 |
82 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1166490317 CA374194787 |
83 | E>K | No |
ClinGen TOPMed |
|
|
CA5150222 rs767075568 |
85 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752343283 CA5150223 |
86 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1249964473 CA374194873 |
86 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755697482 CA5150224 |
87 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1469130521 CA374194901 |
88 | L>P | No |
ClinGen gnomAD |
|
|
CA374194919 rs1238581261 |
89 | E>G | No |
ClinGen TOPMed |
|
|
CA374194969 rs1587903806 |
92 | H>R | No |
ClinGen Ensembl |
|
|
rs142052465 CA5150229 |
93 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778876612 CA5150228 |
93 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150230 rs373185613 |
94 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322473929 CA374195010 |
98 | L>V | No |
ClinGen TOPMed |
|
|
rs143147517 CA5150232 |
99 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201906532 CA5150234 |
100 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1103086 RCV000731753 CA5150236 rs766705810 |
102 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA374195042 rs1587903867 |
103 | E>A | No |
ClinGen Ensembl |
|
|
CA5150238 rs760105919 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1249193041 CA374195054 |
104 | E>D | No |
ClinGen gnomAD |
|
|
CA374195059 rs768017987 |
105 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs768017987 CA5150239 |
105 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5150241 rs755644611 |
106 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA374195073 rs1174002016 |
108 | F>L | No |
ClinGen gnomAD |
|
|
CA374195091 rs1587903903 |
110 | T>I | No |
ClinGen Ensembl |
|
|
CA374195113 rs1466481409 |
114 | M>V | No |
ClinGen gnomAD |
|
|
rs143387431 CA5150262 RCV000909539 |
117 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA196767524 rs528138090 |
117 | M>L | No |
ClinGen 1000Genomes |
|
|
CA196767527 rs528138090 |
117 | M>V | No |
ClinGen 1000Genomes |
|
|
CA196767534 rs200564294 |
119 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200564294 CA5150264 |
119 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 120 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150267 rs758287793 |
123 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs201197466 CA5150268 |
123 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1587924042 CA374197408 |
124 | E>* | No |
ClinGen Ensembl |
|
|
rs368710313 CA5150269 |
127 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747368714 CA196767545 |
128 | P>A | No |
ClinGen Ensembl |
|
|
CA5150270 rs199986788 |
129 | F>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs777787331 CA5150271 |
131 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749393984 CA5150272 |
132 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1291794147 CA374197645 |
136 | D>N | No |
ClinGen gnomAD |
|
|
CA196767550 rs908466458 |
136 | D>V | No |
ClinGen gnomAD |
|
|
CA374197688 rs1201539819 |
138 | N>I | No |
ClinGen TOPMed |
|
|
CA196767551 rs971085410 |
141 | P>L | No |
ClinGen Ensembl |
|
|
CA374197774 rs1422865299 |
144 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1422865299 CA374197769 |
144 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA374197814 rs1350699849 |
146 | T>K | No |
ClinGen gnomAD |
|
|
rs771001954 CA5150273 |
147 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287482680 CA374197817 |
147 | A>T | No |
ClinGen gnomAD |
|
|
rs746136591 CA5150300 |
150 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs749960926 | 150 | G>V | Variant assessed as Somatic; 4.747e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150301 rs769796875 |
151 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5150302 rs140402727 |
151 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143911839 CA5150305 |
152 | P>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5150306 rs747568190 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs143911839 CA5150304 |
152 | P>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5150307 rs368279508 |
153 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176164751 CA374198446 |
154 | V>M | No |
ClinGen gnomAD |
|
|
CA5150308 rs772988781 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196767876 rs935143649 |
161 | S>L | No |
ClinGen TOPMed |
|
|
CA374198586 rs1359203722 |
162 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762763940 CA5150309 |
165 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA374198664 rs1351955740 |
167 | Q>* | No |
ClinGen gnomAD |
|
|
rs766138671 CA5150310 |
168 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA196767882 rs565435586 |
170 | Q>* | No |
ClinGen Ensembl |
|
|
rs774234011 CA5150312 |
171 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150313 rs758657004 |
172 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752721170 CA5150315 |
174 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000896262 CA5150314 rs115305859 |
174 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA374198837 rs1483500799 |
176 | N>D | No |
ClinGen gnomAD |
|
|
CA374198842 rs1483500799 |
176 | N>Y | No |
ClinGen gnomAD |
|
|
CA196767891 rs866737846 |
177 | P>S | No |
ClinGen Ensembl |
|
|
CA5150319 rs750637748 |
178 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5150321 rs758547568 |
179 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5150322 rs780268306 |
180 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1166168838 CA374199013 |
182 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747283768 CA5150323 |
183 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5150324 rs141916862 |
186 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1216622 CA196767901 rs1010935082 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA374199161 rs1587926657 |
188 | Y>S | No |
ClinGen Ensembl |
|
|
CA5150327 rs769426568 |
191 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1221982605 CA374199275 |
191 | Q>P | No |
ClinGen gnomAD |
|
|
CA5150329 rs146299491 |
194 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374199471 rs1241967321 |
195 | V>G | No |
ClinGen gnomAD |
|
|
CA5150330 rs770659460 |
195 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150333 rs767397149 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749291995 CA5150332 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374199580 rs760730959 |
199 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150335 rs760730959 |
199 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376804708 CA5150334 |
199 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374199590 rs1304089169 |
200 | I>V | No |
ClinGen TOPMed |
|
| rs764022329 | 201 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196767923 rs962328836 |
201 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374200673 rs778409762 |
202 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374200735 rs1310647015 |
205 | K>Q | No |
ClinGen gnomAD |
|
|
CA374200745 rs1206433900 |
205 | K>R | No |
ClinGen TOPMed |
|
|
rs1245754029 CA374200803 |
208 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs138371057 CA196768728 |
211 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 212 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775287975 CA5150355 |
212 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150356 rs375760755 |
214 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768531718 CA5150357 |
216 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5150359 rs762985819 |
221 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs776576962 CA5150358 |
221 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374200974 rs12685217 |
222 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374200971 rs12685217 |
222 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766491062 CA5150360 |
222 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1587931148 CA374200988 |
223 | I>T | No |
ClinGen Ensembl |
|
|
rs751714500 CA5150361 |
223 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767649439 CA5150363 |
224 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759740316 CA5150362 |
224 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs969866352 CA196768747 |
227 | A>P | No |
ClinGen TOPMed |
|
|
rs969866352 CA374201023 |
227 | A>T | No |
ClinGen TOPMed |
|
|
CA374201050 rs1301054434 |
229 | A>P | No |
ClinGen gnomAD |
|
|
rs754447054 CA5150367 |
231 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA196768761 rs955852920 |
231 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756816541 CA5150368 |
232 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA374201111 rs1587931234 |
234 | V>G | No |
ClinGen Ensembl |
|
|
CA5150370 rs142834890 |
234 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5150369 rs142834890 |
234 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374201125 rs1289365106 |
236 | E>K | No |
ClinGen gnomAD |
|
|
CA374201164 rs1231673268 |
238 | H>Q | No |
ClinGen gnomAD |
|
|
rs1258323750 CA374201168 |
239 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1346448318 CA374201196 |
241 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5150371 rs144355224 |
242 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196768780 rs922323466 |
245 | W>* | No |
ClinGen Ensembl |
|
|
CA5150372 rs779594562 |
245 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA196768782 rs955188311 |
246 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 247 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150374 rs148983734 |
248 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5150375 rs117325934 |
251 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173805223 CA374201349 |
252 | A>V | No |
ClinGen gnomAD |
|
|
CA374201363 rs1483044560 |
253 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA374201419 rs1466553738 |
257 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374201422 rs1466553738 |
257 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5150380 rs200709126 |
258 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1308912641 CA374201464 |
259 | L>P | No |
ClinGen gnomAD |
|
|
CA5150381 rs752902446 |
259 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764612122 CA5150383 |
260 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761100603 CA5150382 |
260 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048677960 CA196768809 |
261 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5150387 rs150891435 |
264 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5150386 rs779299733 |
264 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150388 rs375252681 |
265 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374201621 rs1488001234 |
266 | V>L | No |
ClinGen gnomAD |
|
|
rs1269279312 CA374201641 |
267 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1269279312 CA374201632 |
267 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5150391 rs754750857 |
267 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388373086 CA374201678 COSM486813 |
268 | L>P | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5150393 rs145067627 |
271 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5150394 rs781643145 |
271 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374201721 rs1295648221 |
272 | A>S | No |
ClinGen gnomAD |
|
|
CA196768838 rs1020562596 |
273 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374201735 rs1382123535 |
274 | G>S | No |
ClinGen gnomAD |
|
|
rs1296085113 CA374201761 |
275 | S>F | No |
ClinGen gnomAD |
|
|
CA5150397 rs745933894 |
277 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1410413075 CA374201793 |
277 | T>I | No |
ClinGen TOPMed |
|
|
rs753009462 CA196768848 |
278 | K>N | No |
ClinGen gnomAD |
|
|
rs1320735708 CA374201805 |
279 | Q>E | No |
ClinGen gnomAD |
|
|
rs1218998529 CA374201849 |
281 | L>P | No |
ClinGen gnomAD |
|
|
CA196768853 rs756625940 |
283 | C>R | No |
ClinGen Ensembl |
|
|
CA5150399 rs772093469 |
287 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs772093469 CA5150398 |
287 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369483943 CA5150401 |
288 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488536129 CA374201971 |
289 | E>K | No |
ClinGen TOPMed |
|
|
CA5150404 rs777077037 |
290 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA196769833 rs1009703902 |
292 | G>D | No |
ClinGen Ensembl |
|
|
rs753673668 CA5150433 |
294 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374203446 rs1484393465 |
295 | V>M | No |
ClinGen TOPMed |
|
|
CA5150435 rs147561143 |
296 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214830141 CA374203497 |
298 | K>T | No |
ClinGen TOPMed |
|
|
rs747041411 CA5150436 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5150437 rs186141807 |
301 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754105305 CA5150438 |
302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196769865 COSM107369 rs143794024 |
302 | P>S | kidney skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1234834136 CA374203583 |
304 | G>S | No |
ClinGen TOPMed |
|
|
CA374203589 rs1306648122 |
304 | G>V | No |
ClinGen gnomAD |
|
|
CA196769884 rs1008966433 |
305 | T>A | No |
ClinGen Ensembl |
|
|
rs1274105383 CA374203600 |
305 | T>N | No |
ClinGen gnomAD |
|
|
rs770189007 CA5150440 |
307 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770189007 CA5150441 |
307 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573083122 CA5150444 |
308 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1466841369 CA374203677 |
309 | M>T | No |
ClinGen gnomAD |
|
|
rs774880374 CA5150446 |
312 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs563059238 COSM1103090 CA196769949 |
313 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5150447 rs140439077 |
313 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5150449 rs757798300 |
314 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA374203782 rs1587935093 |
316 | V>G | No |
ClinGen Ensembl |
|
|
rs201902451 CA196769966 |
317 | G>D | No |
ClinGen 1000Genomes |
|
|
rs1395963161 CA374203793 |
318 | E>K | No |
ClinGen TOPMed |
|
|
CA196769971 rs868778656 |
319 | P>T | No |
ClinGen Ensembl |
|
|
rs1026861373 CA196769977 |
320 | K>E | No |
ClinGen Ensembl |
|
|
CA374203830 rs1248100555 |
321 | G>C | No |
ClinGen gnomAD |
|
|
CA374203846 rs1188741987 |
322 | Y>C | No |
ClinGen gnomAD |
|
|
rs982673491 CA196770006 |
322 | Y>H | No |
ClinGen Ensembl |
|
|
rs1372024010 CA374203860 |
323 | P>L | No |
ClinGen gnomAD |
|
|
CA374203863 rs763824205 |
324 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5150452 rs763824205 |
324 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753525580 CA5150453 |
325 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187825854 CA374203898 |
328 | F>L | No |
ClinGen TOPMed |
|
|
CA374203919 rs1474490985 |
331 | V>L | No |
ClinGen TOPMed |
|
|
rs531117798 CA5150454 |
333 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1204538853 CA374203949 |
335 | V>G | No |
ClinGen TOPMed |
|
|
CA374203963 rs1364490504 |
338 | T>A | No |
ClinGen gnomAD |
|
|
CA5150455 rs778958907 |
339 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750430271 CA5150457 |
341 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1209531500 CA374203991 |
342 | D>G | No |
ClinGen gnomAD |
|
|
rs781487363 CA5150458 |
342 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150461 rs34342219 |
349 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs933690453 CA196770067 |
351 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374204069 rs1375374689 |
353 | H>Y | No |
ClinGen TOPMed |
|
|
CA374204076 rs1448282473 |
354 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 356 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs34624194 | 357 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5150463 rs749586428 |
358 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5150464 rs771334694 |
359 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162321674 CA374204115 |
359 | S>C | No |
ClinGen gnomAD |
|
|
COSM1159461 CA374204116 rs1162321674 |
359 | S>F | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
1 associated diseases with Q9NR45
[MIM: 610442]: Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG)
An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. {ECO:0000269|PubMed:27213289}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. {ECO:0000269|PubMed:27213289}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.5.1.56 | Transferring alkyl or aryl groups, other than methyl groups |
| 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. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| N-acetylneuraminate synthase activity | Catalysis of the reaction: phosphoenolpyruvate + N-acetyl-D-mannosamine + H2O = phosphate + N-acetylneuraminate. |
| N-acylneuraminate cytidylyltransferase activity | Catalysis of the reaction: CTP + N-acylneuraminate = diphosphate + CMP-N-acylneuraminate. |
| N-acylneuraminate-9-phosphate synthase activity | Catalysis of the reaction: H2O + phosphoenolpyruvate + N-acyl-D-mannosamine 6-phosphate = phosphate + N-acylneuraminate 9-phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate biosynthetic process | The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| CMP-N-acetylneuraminate biosynthetic process | The chemical reactions and pathways resulting in the formation of CMP-N-acetylneuraminate, a substance composed of 5-(acetylamino)-3,5-dideoxy-D-glycero-D-galacto-non-3-ulosonic acid in glycosidic linkage with cytidine monophosphate. |
| glycosylation | The covalent attachment and further modification of carbohydrate residues to a substrate molecule. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLELELCPG | RWVGGQHPCF | IIAEIGQNHQ | GDLDVAKRMI | RMAKECGADC | AKFQKSELEF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KFNRKALERP | YTSKHSWGKT | YGEHKRHLEF | SHDQYRELQR | YAEEVGIFFT | ASGMDEMAVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLHELNVPFF | KVGSGDTNNF | PYLEKTAKKG | RPMVISSGMQ | SMDTMKQVYQ | IVKPLNPNFC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLQCTSAYPL | QPEDVNLRVI | SEYQKLFPDI | PIGYSGHETG | IAISVAAVAL | GAKVLERHIT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDKTWKGSDH | SASLEPGELA | ELVRSVRLVE | RALGSPTKQL | LPCEMACNEK | LGKSVVAKVK |
| 310 | 320 | 330 | 340 | 350 | |
| IPEGTILTMD | MLTVKVGEPK | GYPPEDIFNL | VGKKVLVTVE | EDDTIMEELV | DNHGKKIKS |