Q9BS91
PR
Gene name |
SLC35A5 (UNQ164/PRO190) |
Protein name |
Probable UDP-sugar transporter protein SLC35A5 |
Names |
Solute carrier family 35 member A5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55032 |
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 Q9BS91
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BS91-F1 | Predicted | AlphaFoldDB |
364 variants for Q9BS91
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA80533886 rs773342351 |
6 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353707985 rs1559853716 |
7 | S>N | No |
ClinGen Ensembl |
|
|
rs867274116 CA80533912 |
8 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2539861 rs761157849 |
9 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2539860 rs773504560 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1241646804 CA353708044 |
10 | V>A | No |
ClinGen gnomAD |
|
|
CA2539862 rs766803215 |
10 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353708039 rs766803215 CA353708038 |
10 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 11 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369182750 CA2539863 |
12 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80533941 rs1008673542 |
12 | C>Y | No |
ClinGen TOPMed |
|
|
CA2539864 rs201886373 COSM1197201 |
13 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA353708122 rs201886373 |
13 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189709332 CA353708109 |
13 | S>P | No |
ClinGen gnomAD |
|
|
CA353708116 rs201886373 |
13 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80533967 rs921681075 |
15 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA353708168 rs921681075 |
15 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353708170 rs1170067949 |
16 | T>A | No |
ClinGen gnomAD |
|
|
rs1434870119 CA353708217 |
17 | M>I | No |
ClinGen gnomAD |
|
|
rs933147037 CA80533973 |
18 | Y>D | No |
ClinGen Ensembl |
|
|
CA353708264 rs1359929729 |
19 | T>A | No |
ClinGen gnomAD |
|
|
rs763766778 CA2539868 |
20 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353708292 rs1456269170 |
20 | F>Y | No |
ClinGen TOPMed |
|
|
rs781004220 CA2539871 |
23 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299724070 CA353708352 |
24 | A>T | No |
ClinGen gnomAD |
|
|
CA353708388 rs1362470223 |
24 | A>V | No |
ClinGen gnomAD |
|
|
CA2539872 rs200064431 |
25 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779984606 CA353708491 |
28 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2539873 rs552073239 |
28 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs779984606 CA2539874 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353708548 rs1263982622 |
30 | S>R | No |
ClinGen Ensembl |
|
|
rs147519242 CA2539876 |
31 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273056108 CA353708567 |
32 | S>G | No |
ClinGen TOPMed |
|
|
rs1461099010 CA353708602 |
33 | R>C | No |
ClinGen gnomAD |
|
|
rs565810064 CA2539877 |
33 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353708608 rs1231848817 |
34 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 35 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116026682 CA2539879 |
36 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 37 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353708650 rs1305152965 |
37 | V>M | No |
ClinGen TOPMed |
|
|
CA2539882 rs765199251 |
38 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174457653 CA353708691 |
39 | Y>C | No |
ClinGen gnomAD |
|
|
rs776021911 CA2539883 |
39 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405163999 CA353708738 |
41 | A>V | No |
ClinGen gnomAD |
|
|
rs762471432 CA2539884 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA353708799 rs1399235205 |
44 | E>K | No |
ClinGen TOPMed |
|
|
CA2539913 rs760413852 |
46 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766250600 CA2539914 |
47 | Y>C | No |
ClinGen ExAC |
|
|
rs1194601897 CA353710911 |
47 | Y>H | No |
ClinGen TOPMed |
|
|
rs753548293 CA2539915 |
49 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353711025 rs1323629856 |
52 | T>A | No |
ClinGen gnomAD |
|
|
CA353711044 rs1266479445 |
52 | T>I | No |
ClinGen TOPMed |
|
|
CA2539917 rs778934056 |
57 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs778934056 CA353711121 |
57 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1184546668 CA353711141 |
58 | S>P | No |
ClinGen gnomAD |
|
|
rs751692175 CA2539919 |
61 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422621630 CA353711259 |
63 | L>V | No |
ClinGen gnomAD |
|
|
CA2539920 rs757367654 |
64 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162399639 CA353711345 |
66 | C>Y | No |
ClinGen gnomAD |
|
|
rs1370572573 CA353711390 |
68 | L>P | No |
ClinGen gnomAD |
|
|
rs746150435 CA2539922 |
69 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1431258649 CA353711399 |
69 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2539923 rs75656588 |
70 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749638566 CA2539925 |
71 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353711473 rs1385664654 |
72 | C>Y | No |
ClinGen gnomAD |
|
|
rs774774004 CA2539928 |
74 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2539927 rs774774004 |
74 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769167252 CA2539926 |
74 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353711540 rs1342880795 |
75 | K>R | No |
ClinGen gnomAD |
|
|
CA2539929 rs771564794 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1384382955 CA353711858 |
77 | D>E | No |
ClinGen gnomAD |
|
|
rs772578884 CA2539930 |
77 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759423884 CA2539955 |
77 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2539956 rs540087511 |
79 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325858068 CA353711954 |
80 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353712039 rs775393317 |
83 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2539959 rs763011166 |
84 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486818797 CA353712160 |
85 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1268481655 CA353712156 |
85 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1222640578 CA353712147 |
85 | Y>N | No |
ClinGen gnomAD |
|
|
CA2539960 rs750529592 |
86 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750529592 CA2539961 |
86 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150028685 CA2539962 |
87 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353712203 rs1451671780 |
88 | W>R | No |
ClinGen gnomAD |
|
|
rs367755019 CA2539963 |
89 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353712309 rs1310073138 |
92 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353712313 rs1225471441 |
93 | D>N | No |
ClinGen TOPMed |
|
|
CA353712363 rs1283776090 |
94 | F>V | No |
ClinGen TOPMed |
|
|
CA353712410 rs1266303738 |
95 | M>V | No |
ClinGen gnomAD |
|
|
CA2539964 rs755174533 |
97 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559858431 CA353712468 |
98 | S>T | No |
ClinGen Ensembl |
|
|
rs981402824 CA80540349 |
100 | P>L | No |
ClinGen TOPMed |
|
|
rs865827317 CA80540344 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA353712567 rs1455806104 |
101 | A>S | No |
ClinGen gnomAD |
|
|
rs1361010532 CA353712710 COSM3940192 |
105 | F>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1419013606 CA353712685 |
105 | F>V | No |
ClinGen TOPMed |
|
|
CA80540385 rs202034532 |
106 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353712803 rs1305230126 |
110 | I>F | No |
ClinGen gnomAD |
|
|
rs1403052190 CA353712836 |
112 | F>S | No |
ClinGen TOPMed |
|
|
CA353712884 rs1404512735 |
113 | Y>S | No |
ClinGen gnomAD |
|
|
rs61744502 CA80540427 |
116 | S>A | No |
ClinGen Ensembl |
|
|
CA2539971 rs770294902 |
116 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA353712957 rs770294902 |
116 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745554317 CA2539973 |
117 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1356501632 CA353712970 |
117 | Y>H | No |
ClinGen gnomAD |
|
|
CA353712985 rs1266104977 |
118 | L>F | No |
ClinGen gnomAD |
|
|
rs869025247 CA352151 RCV000208563 |
118 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1266104977 CA353712989 |
118 | L>V | No |
ClinGen gnomAD |
|
|
rs1490091551 CA353713021 |
120 | P>L | No |
ClinGen gnomAD |
|
|
CA353713023 rs1490091551 |
120 | P>R | No |
ClinGen gnomAD |
|
|
rs891299935 CA80542795 |
121 | A>V | No |
ClinGen Ensembl |
|
|
CA2539988 rs752052258 |
125 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353714054 rs1185895056 |
126 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA80542834 rs544083592 |
128 | N>Y | No |
ClinGen Ensembl |
|
|
CA2539991 rs201917847 |
130 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1297419852 CA353714158 |
131 | I>S | No |
ClinGen gnomAD |
|
|
CA2539993 rs142275743 |
132 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2539994 rs142275743 |
132 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353714180 rs1266571692 |
133 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353714202 rs749139954 |
134 | T>I | No |
ClinGen ExAC |
|
|
CA2539995 rs749139954 |
134 | T>R | No |
ClinGen ExAC |
|
|
rs768287436 CA353714238 |
136 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs908650808 CA80542892 |
136 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768287436 CA2539996 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA80542896 rs941519099 |
137 | L>I | No |
ClinGen TOPMed |
|
|
rs995210942 CA80542905 |
138 | F>V | No |
ClinGen Ensembl |
|
|
CA2539997 rs774176559 |
139 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA353714381 rs1297045714 |
141 | V>G | No |
ClinGen gnomAD |
|
|
CA2539998 rs761699278 |
142 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1187154724 CA353716445 |
144 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1240234 CA353716453 rs1186195063 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs146786641 CA2540018 |
145 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2540020 rs759631592 |
147 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756268619 CA80546624 |
148 | W>R | No |
ClinGen Ensembl |
|
|
rs1476102629 CA353716523 |
150 | Q>* | No |
ClinGen gnomAD |
|
|
rs775606881 CA2540022 |
150 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769906065 CA2540021 |
150 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763148865 CA2540023 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2540024 rs764363027 |
154 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210662956 CA353716634 |
156 | T>S | No |
ClinGen Ensembl |
|
|
rs768169817 CA2540028 |
158 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230559018 CA353716718 |
160 | S>F | No |
ClinGen TOPMed |
|
|
CA2540029 rs750912504 |
161 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436493407 CA353716749 |
162 | V>A | No |
ClinGen TOPMed |
|
|
rs756667447 CA2540030 |
163 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765849068 CA2540031 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1292528725 CA353716772 |
164 | L>F | No |
ClinGen gnomAD |
|
|
CA80546674 rs373182838 |
165 | T>I | No |
ClinGen Ensembl |
|
|
CA2540033 rs538115028 |
166 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747945426 CA2540035 |
167 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353716802 rs1408989577 |
168 | T>A | No |
ClinGen TOPMed |
|
|
CA353716838 rs377381804 |
171 | L>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA80546702 rs377381804 |
171 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2540037 rs777517269 |
173 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1576761837 CA353716869 |
174 | N>D | No |
ClinGen Ensembl |
|
|
CA2540038 rs746986429 |
177 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs144280370 CA2540040 |
178 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA80546731 rs775489012 |
178 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775489012 CA2540041 |
178 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353716909 rs144280370 COSM315306 |
178 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
rs1057037818 CA80546740 |
183 | D>G | No |
ClinGen TOPMed |
|
|
rs370677796 CA2540043 |
183 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370677796 CA80546738 |
183 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2540044 rs774592568 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1371833928 CA353717013 |
192 | C>F | No |
ClinGen gnomAD |
|
|
CA353717011 rs1371833928 |
192 | C>Y | No |
ClinGen gnomAD |
|
|
CA353717018 rs1356649480 |
193 | L>F | No |
ClinGen gnomAD |
|
|
CA2540048 rs146568109 |
193 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353717025 rs1315825952 |
194 | L>P | No |
ClinGen gnomAD |
|
|
rs140837136 CA2540049 |
195 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140837136 CA353717027 |
195 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291291184 CA353717063 |
199 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2540050 rs766898689 |
199 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA80546798 rs1015662024 |
200 | P>R | No |
ClinGen TOPMed |
|
|
CA80546803 rs962834057 |
202 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353717090 rs1206956797 |
203 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80546807 rs868439284 |
204 | N>S | No |
ClinGen Ensembl |
|
|
rs1279606152 CA353717125 |
205 | C>Y | No |
ClinGen TOPMed |
|
|
CA2540053 rs764833144 |
206 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2540054 rs148623174 |
207 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350677904 CA353717163 |
209 | E>K | No |
ClinGen TOPMed |
|
|
CA353717197 rs1162578093 |
211 | T>A | No |
ClinGen gnomAD |
|
|
CA2540056 rs758011317 |
217 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1021338772 CA80546821 |
219 | T>A | No |
ClinGen TOPMed |
|
|
rs746790864 CA2540058 |
220 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757154123 CA2540059 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353717425 rs1316331603 |
223 | V>G | No |
ClinGen gnomAD |
|
|
rs749357552 CA2540061 |
225 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1283633714 CA353717487 |
226 | H>Q | No |
ClinGen gnomAD |
|
|
CA353717502 rs1427392011 |
227 | I>S | No |
ClinGen TOPMed |
|
|
rs768732529 CA2540062 |
227 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954329062 CA80546837 |
228 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774550796 CA2540063 |
228 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772420472 CA2540065 |
230 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA80546845 rs903884217 |
231 | M>L | No |
ClinGen Ensembl |
|
|
rs1244858080 CA353717574 |
232 | G>C | No |
ClinGen gnomAD |
|
|
rs773772153 CA2540066 |
232 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758430161 CA353717642 |
236 | I>F | No |
ClinGen gnomAD |
|
|
rs758430161 CA80546871 |
236 | I>L | No |
ClinGen gnomAD |
|
|
rs771349675 CA2540068 |
236 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758430161 CA353717640 |
236 | I>V | No |
ClinGen gnomAD |
|
|
rs1417884940 CA353717676 |
238 | V>A | No |
ClinGen gnomAD |
|
|
CA2540069 rs777159719 |
239 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs150129196 CA2540070 |
240 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150129196 CA80546882 |
240 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2540071 rs764839730 |
240 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA353717718 rs1236659628 |
241 | F>S | No |
ClinGen TOPMed |
|
|
CA353717750 rs1333610274 |
243 | S>C | No |
ClinGen gnomAD |
|
|
CA353717751 rs1333610274 |
243 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2540072 rs752196123 |
244 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2540074 rs763676791 |
245 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751359097 CA2540075 |
247 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA80546908 VAR_036945 rs17849939 |
247 | N>I | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA353717823 rs17849939 |
247 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA80546914 rs1019783737 |
248 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1264713893 CA353717840 |
248 | I>V | No |
ClinGen gnomAD |
|
|
CA2540076 rs142107337 |
249 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80546919 rs945053088 |
254 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1249589224 CA353718068 |
256 | E>K | No |
ClinGen gnomAD |
|
|
rs113247922 CA2540079 |
257 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353718107 rs1449426590 |
258 | N>D | No |
ClinGen TOPMed |
|
|
rs979835221 CA80546938 |
258 | N>K | No |
ClinGen Ensembl |
|
|
CA2540080 rs779202217 |
259 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2540081 rs748226940 |
259 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs772439049 CA2540082 |
260 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA80546946 rs559896186 |
263 | S>R | No |
ClinGen TOPMed |
|
|
CA2540083 rs778077827 |
266 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353718347 rs1402503994 |
266 | I>V | No |
ClinGen gnomAD |
|
|
rs747367825 CA2540084 |
267 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405713029 CA353718365 |
267 | Q>R | No |
ClinGen gnomAD |
|
|
CA353718393 rs1284960220 |
268 | N>Y | No |
ClinGen gnomAD |
|
|
CA2540085 rs542629264 |
269 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2540086 rs776825004 |
270 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2540088 rs760151598 |
272 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA80546966 rs895013676 |
275 | G>D | No |
ClinGen TOPMed |
|
|
CA353718552 rs1284625422 |
275 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2540090 rs774992635 |
278 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353718727 rs1376640476 |
284 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1320690771 CA353718756 |
286 | Q>E | No |
ClinGen TOPMed |
|
|
rs762381230 CA353718813 |
288 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762381230 CA2540091 |
288 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2540092 rs145893363 |
290 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2540093 COSM1582548 rs751173825 |
290 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs376063195 CA2540095 |
291 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268993601 CA353718859 |
291 | D>H | No |
ClinGen TOPMed |
|
|
CA2540096 rs767385342 |
292 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs369157029 CA80546987 |
293 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs898620062 CA80546993 |
296 | C>S | No |
ClinGen TOPMed |
|
|
rs1385981304 CA353719680 |
298 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1385981304 CA353719683 |
298 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 299 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559864579 CA353719744 |
300 | Y>* | No |
ClinGen Ensembl |
|
| rs1363537717 | 300 | Y>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353719728 rs1307393357 |
300 | Y>N | No |
ClinGen gnomAD |
|
|
CA353719758 rs1236725563 |
301 | G>D | No |
ClinGen gnomAD |
|
|
CA80546994 rs995600124 |
301 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353719785 rs1307905569 |
302 | H>Q | No |
ClinGen gnomAD |
|
|
rs1559864605 CA353719781 |
302 | H>R | No |
ClinGen Ensembl |
|
|
CA353719773 rs1559864599 |
302 | H>Y | No |
ClinGen Ensembl |
|
|
rs1359534641 CA353719824 |
303 | S>R | No |
ClinGen gnomAD |
|
|
rs1224331784 CA353719842 |
304 | A>T | No |
ClinGen gnomAD |
|
|
rs1449957192 CA353719902 |
306 | S>L | No |
ClinGen TOPMed |
|
|
rs780084734 CA2540099 |
307 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2540100 rs780084734 |
307 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353719941 rs1251612823 |
308 | A>G | No |
ClinGen gnomAD |
|
|
rs1043003748 CA80546996 |
308 | A>T | No |
ClinGen Ensembl |
|
|
rs1311088937 CA353720035 |
312 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs903853140 CA80547009 |
313 | T>P | No |
ClinGen gnomAD |
|
|
CA2540102 rs778167710 |
313 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA353720075 rs1445287650 |
314 | A>T | No |
ClinGen gnomAD |
|
|
rs376720159 CA2540104 |
323 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781661967 CA2540105 |
324 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385088138 CA353720339 |
327 | L>M | No |
ClinGen TOPMed |
|
|
rs1330580751 CA353720355 |
328 | D>V | No |
ClinGen gnomAD |
|
|
rs1389671671 CA353720349 |
328 | D>Y | No |
ClinGen gnomAD |
|
|
rs775935432 CA2540108 CA353720387 |
330 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760238116 CA80547039 |
330 | M>V | No |
ClinGen gnomAD |
|
|
rs1312215974 CA353720411 |
332 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs150655342 CA2540110 |
333 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1252321190 CA353720459 |
336 | A>S | No |
ClinGen gnomAD |
|
|
CA353720455 rs1252321190 |
336 | A>T | No |
ClinGen gnomAD |
|
|
rs1481815068 CA353720464 |
336 | A>V | No |
ClinGen gnomAD |
|
|
rs377032026 CA2540111 |
337 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197355967 CA353720466 |
337 | Q>K | No |
ClinGen gnomAD |
|
|
CA353720506 rs1462124188 |
339 | T>A | No |
ClinGen gnomAD |
|
|
rs140039749 CA2540114 |
342 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2540113 rs767064773 |
342 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2540116 rs766454320 |
347 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169933225 CA353720633 |
347 | S>F | No |
ClinGen gnomAD |
|
|
CA353720643 rs1406780014 |
348 | V>A | No |
ClinGen gnomAD |
|
|
rs527530245 CA2540117 |
350 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527530245 CA353720663 |
350 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2540119 rs764331967 |
352 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353720739 rs1297246553 |
353 | F>L | No |
ClinGen gnomAD |
|
|
CA353720781 rs1204817061 |
354 | R>S | No |
ClinGen TOPMed |
|
|
CA353720785 rs1343510824 |
355 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2540120 rs751575142 |
356 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353720805 rs1309672324 |
356 | S>F | No |
ClinGen gnomAD |
|
|
CA353720897 rs1324901030 |
358 | E>D | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2540121 rs757511613 |
359 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353720923 rs1231696887 |
360 | F>L | No |
ClinGen TOPMed |
|
|
rs1235873806 CA353720917 |
360 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2540123 rs370094883 |
363 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs61738676 CA2540124 |
363 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348792563 CA353721211 |
367 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs146313841 CA2540126 |
368 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353721349 rs1410275662 |
370 | I>L | No |
ClinGen TOPMed |
|
|
CA353721437 rs1373006036 |
371 | F>L | No |
ClinGen gnomAD |
|
|
rs775045863 CA80547085 |
372 | I>T | No |
ClinGen Ensembl |
|
|
rs1372160703 CA353721450 |
372 | I>V | No |
ClinGen TOPMed |
|
|
TCGA novel CA353721520 rs1576763248 |
373 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1170800830 CA353721600 |
374 | N>K | No |
ClinGen TOPMed |
|
|
CA353721626 rs1465459634 |
375 | A>S | No |
ClinGen TOPMed |
|
|
rs773971269 CA2540130 |
376 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359458544 CA353721764 |
378 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771762824 CA2540132 |
379 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM370536 rs372446123 CA2540133 |
381 | P>L | lung breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs190634539 CA80547094 |
382 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA80547104 rs151177314 |
386 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2540138 rs151177314 |
386 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs898547017 CA80547106 |
387 | Q>* | No |
ClinGen TOPMed |
|
|
rs898547017 CA353722026 |
387 | Q>E | No |
ClinGen TOPMed |
|
|
CA353722033 rs751660721 |
387 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751660721 CA2540139 |
387 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235426034 CA353722079 |
389 | R>S | No |
ClinGen TOPMed |
|
|
CA2540142 rs767801885 |
390 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA353722091 rs1327155997 |
390 | I>T | No |
ClinGen TOPMed |
|
|
rs1288024958 CA353722102 |
391 | R>* | No |
ClinGen TOPMed |
|
|
COSM1036383 CA80547125 rs866537161 |
391 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1229219254 CA353722220 |
395 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1229219254 CA353722225 |
395 | G>V | No |
ClinGen TOPMed |
|
|
rs569622460 CA2540143 |
396 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs995623233 CA80547130 |
398 | W>R | No |
ClinGen TOPMed |
|
|
CA353722296 rs1439746285 |
399 | E>D | No |
ClinGen gnomAD |
|
|
CA80547132 rs769253749 |
399 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769253749 CA80547133 |
399 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA353722311 rs1424409517 |
400 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA80547135 rs992603288 |
400 | R>H | No |
ClinGen gnomAD |
|
|
rs780454476 CA2540144 |
401 | S>C | No |
ClinGen ExAC |
|
|
rs547946846 CA80547925 |
412 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353723196 rs1457234650 |
414 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2540179 rs770724842 |
414 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780945610 CA80547936 |
415 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs780945610 CA2540180 |
415 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745691139 CA2540181 |
416 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769518152 CA2540182 |
420 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA353723420 rs1162264591 |
420 | D>Y | No |
ClinGen gnomAD |
|
|
rs775334983 CA2540183 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353723652 rs1184844563 |
424 | F>L | No |
ClinGen gnomAD |
No associated diseases with Q9BS91
No regional properties for Q9BS91
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BS91 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of Golgi membrane | The component of the Golgi membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| pyrimidine nucleotide-sugar transmembrane transporter activity | Enables the transfer of a pyrimidine nucleotide-sugar from one side of a membrane to the other. Pyrimidine nucleotide-sugars are pyrimidine nucleotides in glycosidic linkage with a monosaccharide or monosaccharide derivative. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate transport | The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8LGE9 | At5g41760 | CMP-sialic acid transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKQCCSHPV | ICSLSTMYTF | LLGAIFIALS | SSRILLVKYS | ANEENKYDYL | PTTVNVCSEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VKLVFCVLVS | FCVIKKDHQS | RNLKYASWKE | FSDFMKWSIP | AFLYFLDNLI | VFYVLSYLQP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AMAVIFSNFS | IITTALLFRI | VLKRRLNWIQ | WASLLTLFLS | IVALTAGTKT | LQHNLAGRGF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HHDAFFSPSN | SCLLFRSECP | RKDNCTAKEW | TFPEAKWNTT | ARVFSHIRLG | MGHVLIIVQC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FISSMANIYN | EKILKEGNQL | TESIFIQNSK | LYFFGILFNG | LTLGLQRSNR | DQIKNCGFFY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GHSAFSVALI | FVTAFQGLSV | AFILKFLDNM | FHVLMAQVTT | VIITTVSVLV | FDFRPSLEFF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LEAPSVLLSI | FIYNASKPQV | PEYAPRQERI | RDLSGNLWER | SSGDGEELER | LTKPKSDESD |
| EDTF |