Q9BVH7
PR
Gene name |
ST6GALNAC5 (SIAT7E) |
Protein name |
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
Names |
GD1 alpha synthase, GalNAc alpha-2,6-sialyltransferase V, ST6GalNAc V, ST6GalNAcV, Sialyltransferase 7E, SIAT7-E |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81849 |
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 Q9BVH7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BVH7-F1 | Predicted | AlphaFoldDB |
312 variants for Q9BVH7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1292882563 CA340859743 |
2 | K>N | No |
ClinGen gnomAD |
|
|
rs751911412 CA915272 |
3 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs572703660 CA915271 |
3 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340859747 rs751911412 |
3 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA340859761 rs1364171843 |
5 | M>I | No |
ClinGen gnomAD |
|
|
rs1002476869 CA25321572 |
5 | M>V | No |
ClinGen gnomAD |
|
|
rs766577128 CA915298 |
6 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA915299 rs200073725 |
7 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA25321676 rs1003968550 |
7 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA915300 rs755157265 |
7 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA340859832 COSM1687943 rs1178394106 |
15 | L>P | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1298921203 CA340859854 |
18 | M>I | No |
ClinGen gnomAD |
|
|
CA340859850 rs1465765761 |
18 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA915304 rs534210808 |
23 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA915305 rs745720751 |
25 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA25321677 rs1029993883 |
28 | S>R | No |
ClinGen TOPMed |
|
|
CA915309 COSM1344361 rs768112261 |
31 | G>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768112261 CA340859936 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340859939 rs1261717526 |
31 | G>V | No |
ClinGen gnomAD |
|
|
CA915310 rs773869543 |
34 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA340859956 rs1311947265 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs767913475 CA915312 |
35 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340859964 COSM1602676 rs1355172707 |
35 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA915313 rs570065458 |
36 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570065458 CA915314 |
36 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1480750581 CA340859972 |
37 | P>A | No |
ClinGen gnomAD |
|
|
CA25321678 rs914284704 |
37 | P>L | No |
ClinGen TOPMed |
|
|
CA340859974 rs914284704 |
37 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480750581 CA340859973 |
37 | P>S | No |
ClinGen gnomAD |
|
|
CA915324 rs755275791 |
38 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915323 rs755275791 |
38 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340859982 rs1450489334 |
39 | Q>K | No |
ClinGen TOPMed |
|
|
CA915328 rs952663670 |
41 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs952663670 CA915329 |
41 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340860008 rs1301106843 |
42 | Q>R | No |
ClinGen TOPMed |
|
|
rs1048467516 CA25321682 |
43 | Q>E | No |
ClinGen TOPMed |
|
|
CA25321684 rs911149345 |
44 | Q>R | No |
ClinGen Ensembl |
|
|
rs555949467 CA915340 |
45 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745657901 CA915342 |
46 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215466882 CA340860048 |
48 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340860050 rs1215466882 |
48 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340860051 rs1477411884 |
48 | Q>P | No |
ClinGen TOPMed |
|
|
rs1363870470 CA340860059 |
49 | Q>P | No |
ClinGen TOPMed |
|
|
CA340860076 rs1225692560 |
52 | A>T | No |
ClinGen gnomAD |
|
|
CA915350 rs773781574 |
53 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs747677052 CA915352 |
54 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747677052 CA25321687 |
54 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915351 rs747677052 |
54 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766801107 CA915355 |
56 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340860115 rs759767889 |
58 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759767889 CA915358 |
58 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340860119 rs1307599116 |
59 | A>E | No |
ClinGen TOPMed |
|
|
CA340860116 rs1385963431 |
59 | A>T | No |
ClinGen gnomAD |
|
|
CA340860121 rs1307599116 |
59 | A>V | No |
ClinGen TOPMed |
|
|
CA25321690 rs1003525953 |
61 | E>G | No |
ClinGen Ensembl |
|
|
rs752811015 CA915360 |
61 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1301854744 CA340860151 |
64 | T>A | No |
ClinGen gnomAD |
|
|
rs574460758 CA915361 |
65 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143010807 CA915363 |
66 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143010807 CA915362 |
66 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756095581 CA915364 |
68 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs993511285 CA340860182 |
69 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA25321692 rs993511285 |
69 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs897908782 CA25321691 CA340860180 |
69 | G>R | No |
ClinGen TOPMed |
|
|
CA915367 rs754619827 |
70 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA340860198 rs747671431 |
72 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs747671431 CA915369 |
72 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771521310 CA915370 |
74 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463337116 CA340860210 |
74 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs952554580 CA25321694 |
75 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs952554580 CA25321693 |
75 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1188195628 CA340860212 |
75 | R>W | No |
ClinGen gnomAD |
|
|
rs777365661 CA915371 |
77 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340860232 rs1161826460 |
79 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 83 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA25321695 rs1021398071 |
84 | A>V | No |
ClinGen TOPMed |
|
|
CA25321696 rs968442640 |
86 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs370582645 CA25341647 |
88 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs370582645 CA340861656 |
88 | P>T | No |
ClinGen ESP TOPMed |
|
|
CA340861699 rs1342572429 |
91 | M>I | No |
ClinGen TOPMed |
|
|
CA25341648 rs1000220512 |
92 | H>Y | No |
ClinGen Ensembl |
|
|
CA340861730 rs1386269320 |
93 | C>F | No |
ClinGen TOPMed |
|
|
rs778596486 CA915386 |
95 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA25341650 rs893838341 |
96 | C>G | No |
ClinGen Ensembl |
|
|
CA340861802 rs1206787329 |
99 | V>M | No |
ClinGen gnomAD |
|
|
rs1411364112 CA340861823 |
100 | T>I | No |
ClinGen TOPMed |
|
|
CA915387 rs550499040 |
103 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA915389 rs777080875 |
107 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA915390 rs746598078 COSM1296703 |
109 | R>G | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM278465 CA915392 rs781777501 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746598078 CA915391 |
109 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746207409 CA915393 |
111 | G>V | No |
ClinGen ExAC |
|
|
rs770246817 CA915394 |
112 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3805899 CA25341651 rs1023568909 |
113 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 115 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763024064 CA915396 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768924800 CA915397 |
116 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774287591 CA915398 |
117 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774287591 CA340861950 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1327825127 CA340861954 |
118 | E>K | No |
ClinGen TOPMed |
|
|
CA915400 rs766279786 |
121 | I>N | No |
ClinGen ExAC gnomAD |
|
|
COSM912221 rs373697686 CA915401 |
122 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1344368 rs367738862 CA915402 |
122 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144853725 CA915403 |
126 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3386339 CA915406 rs763867212 |
129 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA915407 rs137895866 |
129 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340862033 rs1475566953 |
130 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200892928 CA915409 |
130 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1475566953 CA340862034 COSM912222 |
130 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1387818430 CA340862041 |
131 | Y>C | No |
ClinGen gnomAD |
|
|
CA25341653 rs959899083 |
133 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA25341654 rs922512333 |
133 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA25341655 rs973086994 |
134 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756654226 CA915411 |
135 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759920866 COSM536348 CA25341656 |
135 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA915412 rs557518611 |
137 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA915413 rs749726000 |
138 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA915414 rs764946134 |
138 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866496071 CA25341658 |
140 | S>N | No |
ClinGen Ensembl |
|
|
rs1222512954 CA340862108 |
143 | V>I | No |
ClinGen gnomAD |
|
|
rs773301164 CA915418 |
144 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA915420 rs375598901 |
145 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775136891 CA915421 |
145 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs866598998 CA340862136 |
147 | S>C | No |
ClinGen TOPMed |
|
|
CA25341659 rs866598998 |
147 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340862147 rs1163740828 |
149 | I>L | No |
ClinGen gnomAD |
|
|
CA340862148 rs1369662596 |
149 | I>N | No |
ClinGen gnomAD |
|
|
CA915426 rs768517168 |
150 | Q>L* | No |
ClinGen ExAC |
|
|
CA340862156 rs1456372464 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
CA340862161 rs751221511 |
151 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756996368 CA915428 |
151 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs767074047 CA915429 |
153 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915431 COSM464956 rs752358616 |
154 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA915432 rs780666275 |
154 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915433 rs34735755 |
155 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915435 rs755409104 |
156 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368272917 CA915437 |
156 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368272917 CA915436 |
156 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA915434 rs755409104 |
156 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs150668718 CA915438 |
157 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1192870096 CA340862204 |
158 | D>E | No |
ClinGen TOPMed |
|
|
CA340862201 rs1267888914 |
158 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762652978 CA915439 |
158 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490229305 CA340862215 |
160 | L>F | No |
ClinGen gnomAD |
|
|
rs1476731387 CA340862219 |
160 | L>P | No |
ClinGen TOPMed |
|
|
rs769598284 CA340862235 |
161 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340862231 rs1464191473 |
161 | N>S | No |
ClinGen gnomAD |
|
|
rs186490545 CA915441 |
162 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340862255 rs1421499827 |
163 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340862268 rs1186752995 |
164 | Q>E | No |
ClinGen gnomAD |
|
|
rs189362082 CA915442 |
164 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768452537 CA915443 |
165 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs774305544 CA915444 |
166 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA915446 rs767341692 |
167 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340862347 rs1400167673 |
169 | I>F | No |
ClinGen gnomAD |
|
|
rs1400167673 CA340862343 |
169 | I>L | No |
ClinGen gnomAD |
|
|
CA340862365 rs1395469474 |
170 | F>C | No |
ClinGen gnomAD |
|
|
rs144741784 CA25341661 |
170 | F>L | No |
ClinGen ESP |
|
|
CA25341662 rs145291879 |
172 | G>D | No |
ClinGen ESP |
|
|
CA25341663 rs111715869 |
173 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340862403 rs111715869 |
173 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA25341665 rs922800624 |
174 | S>R | No |
ClinGen TOPMed |
|
|
rs766763123 CA915449 |
175 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421278125 CA340862452 |
176 | Y>* | No |
ClinGen gnomAD |
|
|
rs372192396 CA915451 |
176 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA915450 rs372192396 |
176 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340862471 rs1210422000 CA340862468 |
177 | M>I | No |
ClinGen gnomAD |
|
|
CA915453 rs763562311 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340862476 rs779190621 COSM3805900 |
178 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA915455 rs200875685 |
179 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA915454 rs758607422 |
179 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA915457 rs771006463 COSM1748604 |
181 | G>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340862518 rs1411002763 |
181 | G>V | No |
ClinGen gnomAD |
|
|
CA915459 rs181695447 |
183 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340862539 rs1178523550 |
183 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424443904 CA340862576 |
185 | V>A | No |
ClinGen TOPMed |
|
|
CA340862597 rs1298861835 |
188 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774280846 CA915461 |
188 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340862598 rs1298861835 |
188 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs546360140 CA915462 |
190 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA915463 rs771824917 |
191 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA340862621 rs1570131929 |
192 | L>V | No |
ClinGen Ensembl |
|
|
rs1181041525 CA340862626 |
193 | S>G | No |
ClinGen TOPMed |
|
|
rs1256960081 CA340862645 |
195 | V>G | No |
ClinGen TOPMed |
|
|
rs773037681 CA915464 |
195 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212789619 CA340862649 |
196 | L>P | No |
ClinGen TOPMed |
|
|
CA340862653 rs1299622818 |
197 | P>S | No |
ClinGen gnomAD |
|
|
CA915467 rs368875829 |
198 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765863536 CA915466 |
198 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490489798 CA340862676 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs151200060 CA915470 |
203 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557772744 CA340862725 |
204 | I>T | No |
ClinGen Ensembl |
|
|
CA25341669 rs772097291 |
205 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340862729 rs772097291 |
205 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340862731 rs772097291 |
205 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758804099 CA915471 |
206 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915472 rs145379056 |
206 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145379056 CA340862744 |
206 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427824908 CA340862761 |
207 | H>Q | No |
ClinGen gnomAD |
|
|
rs1242759233 CA340862771 |
208 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA915473 rs751758799 |
210 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367286267 CA340862819 |
211 | Q>H | No |
ClinGen gnomAD |
|
|
CA915476 rs745998079 COSM265467 |
211 | Q>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 212 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458315169 CA340862849 |
213 | D>E | No |
ClinGen TOPMed |
|
|
rs148581074 CA915478 |
214 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368315520 CA915479 |
215 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747917732 CA915480 |
215 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs937706971 CA25341671 |
218 | Q>* | No |
ClinGen TOPMed |
|
|
rs1181259512 CA340862963 |
222 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340862989 rs1488011329 |
223 | D>E | No |
ClinGen gnomAD |
|
|
rs1035094741 CA25341672 |
223 | D>N | No |
ClinGen gnomAD |
|
|
CA915496 rs779329661 |
225 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467851529 CA340863440 |
226 | I>M | No |
ClinGen Ensembl |
|
|
rs1208318354 CA340863435 |
226 | I>V | No |
ClinGen gnomAD |
|
|
CA340863443 rs1166745395 |
227 | S>A | No |
ClinGen TOPMed |
|
|
rs1181688725 CA340863444 |
227 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748048764 CA915497 |
230 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA915498 rs748112880 |
235 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs199636377 CA915499 |
236 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA340863512 rs1420201771 |
237 | T>S | No |
ClinGen gnomAD |
|
|
rs776188480 CA915503 |
238 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770595800 CA915502 |
238 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340863529 rs1256658291 |
239 | T>I | No |
ClinGen TOPMed |
|
|
rs1194271544 CA340863536 |
240 | I>M | No |
ClinGen TOPMed |
|
|
CA25342260 rs914236423 |
241 | A>E | No |
ClinGen Ensembl |
|
|
CA915504 rs745552684 |
242 | L>V | No |
ClinGen ExAC |
|
|
rs774997099 CA915506 |
243 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340863556 rs1570138935 |
244 | L>H | No |
ClinGen Ensembl |
|
|
CA915508 rs764580216 |
247 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA915509 rs774760454 |
247 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA915510 rs762130417 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA25342261 rs1030631991 |
249 | N>I | No |
ClinGen TOPMed |
|
|
CA25342262 rs767744956 |
250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915511 rs767744956 |
250 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750569380 CA915512 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756425973 CA915513 |
254 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756425973 CA340863620 |
254 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340863627 rs1326751816 |
255 | P>H | No |
ClinGen gnomAD |
|
|
CA25342263 rs765420431 |
256 | P>S | No |
ClinGen gnomAD |
|
|
CA915546 rs779734543 |
261 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1427179800 CA340863688 |
262 | P>H | No |
ClinGen Ensembl |
|
|
CA340863687 rs1191561371 |
262 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM110465 rs145995626 CA25343618 |
264 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA340863711 rs1474838034 |
265 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA25343619 rs752770582 |
268 | P>L | No |
ClinGen Ensembl |
|
|
CA915549 rs778510506 |
268 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748547179 CA915551 |
269 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748547179 CA915550 |
269 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA915555 rs754897475 |
274 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA340863768 rs754897475 |
274 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761180303 CA915553 |
274 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA915554 rs761180303 |
274 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1318548075 CA340863790 |
278 | D>H | No |
ClinGen TOPMed |
|
|
rs759824508 CA915556 |
280 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1401794738 CA340863813 |
281 | T>A | No |
ClinGen gnomAD |
|
|
CA915557 rs765170858 |
281 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA340863823 rs1450192304 |
282 | M>I | No |
ClinGen gnomAD |
|
|
rs1449697644 CA340863848 |
286 | H>Y | No |
ClinGen gnomAD |
|
|
rs1189990540 CA340863854 |
287 | E>K | No |
ClinGen gnomAD |
|
|
rs1387761349 CA340863863 |
288 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761648265 CA915559 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA915560 CA340863866 rs767496658 |
289 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs371237652 CA915561 |
290 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA915562 COSM1344372 rs144604997 |
290 | R>H | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA915563 rs144604997 |
290 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371237652 CA340863871 |
290 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753443235 CA915564 |
291 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA340863881 rs1570153692 |
292 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 293 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754674598 CA915565 |
295 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs778221691 CA915566 |
296 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375136160 CA915567 |
296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778221691 CA340863910 |
296 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915569 rs576705840 |
298 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747549995 CA915570 |
302 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 302 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771372770 CA915571 |
302 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA915573 rs746008453 |
305 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210152441 CA340863986 |
307 | W>* | No |
ClinGen gnomAD |
|
|
CA915574 rs770117593 |
307 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA340863995 rs1442914380 |
308 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 309 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368306231 CA915575 |
309 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340864018 rs1188183165 |
312 | N>S | No |
ClinGen gnomAD |
|
|
CA340864033 rs1370179550 |
314 | H>R | No |
ClinGen gnomAD |
|
|
rs1189414838 CA340864051 |
316 | F>L | No |
ClinGen TOPMed |
|
|
rs763138993 CA915577 |
316 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs763138993 CA340864048 |
316 | F>Y | No |
ClinGen ExAC gnomAD |
|
| rs759907555 | 317 | Q>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389069248 CA340864092 |
322 | P>A | No |
ClinGen gnomAD |
|
|
CA340864116 rs1459040027 |
325 | L>R | No |
ClinGen gnomAD |
|
|
CA340864120 rs868845736 |
326 | A>G | No |
ClinGen gnomAD |
|
|
rs575531437 CA25343622 |
326 | A>S | No |
ClinGen Ensembl |
|
|
CA25343623 rs868845736 |
326 | A>V | No |
ClinGen gnomAD |
|
|
CA340864123 rs1396738767 |
327 | I>V | No |
ClinGen gnomAD |
|
|
rs773096673 CA915579 |
330 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1233190616 CA340864166 |
333 | K>E | No |
ClinGen gnomAD |
|
|
CA340864173 rs1289396709 |
334 | P>T | No |
ClinGen gnomAD |
|
|
rs1331619775 CA340864180 |
335 | V>L | No |
ClinGen gnomAD |
|
|
rs1331619775 CA340864179 |
335 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 336 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340864195 rs1265790156 |
337 | F>Q | No |
ClinGen gnomAD |
No associated diseases with Q9BVH7
No regional properties for Q9BVH7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BVH7 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity | Catalysis of the reaction: CMP-N-acetylneuraminate + glycano-(1->3)-(N-acetyl-alpha-D-galactosaminyl)-glycoprotein = CMP + glycano-[(2->6)-alpha-N-acetylneuraminyl]-(N-acetyl-D-galactosaminyl)-glycoprotein. |
| sialyltransferase activity | Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| ganglioside biosynthetic process | The chemical reactions and pathways resulting in the formation of ceramide oligosaccharides carrying in addition to other sugar residues, one or more sialic acid residues. |
| glycosphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of glycosphingolipid, a compound with residues of sphingoid and at least one monosaccharide. |
| oligosaccharide biosynthetic process | The chemical reactions and pathways resulting in the formation of oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. |
| oligosaccharide metabolic process | The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92184 | ST6GALNAC2 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Gallus gallus (Chicken) | PR |
| Q92182 | ST6GAL1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Gallus gallus (Chicken) | PR |
| Q701R0 | ST6GAL2 | Beta-galactoside alpha-2,6-sialyltransferase 2 | Gallus gallus (Chicken) | PR |
| P15907 | ST6GAL1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Homo sapiens (Human) | PR |
| Q9UJ37 | ST6GALNAC2 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Homo sapiens (Human) | PR |
| Q96JF0 | ST6GAL2 | Beta-galactoside alpha-2,6-sialyltransferase 2 | Homo sapiens (Human) | PR |
| Q64685 | St6gal1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Mus musculus (Mouse) | PR |
| P70277 | St6galnac2 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Mus musculus (Mouse) | PR |
| Q9QYJ1 | St6galnac5 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 | Mus musculus (Mouse) | PR |
| P13721 | St6gal1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q9SGD2 | GALT29A | Beta-1,6-galactosyltransferase GALT29A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTLMRHGLA | VCLALTTMCT | SLLLVYSSLG | GQKERPPQQQ | QQQQQQQQQA | SATGSSQPAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ESSTQQRPGV | PAGPRPLDGY | LGVADHKPLK | MHCRDCALVT | SSGHLLHSRQ | GSQIDQTECV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRMNDAPTRG | YGRDVGNRTS | LRVIAHSSIQ | RILRNRHDLL | NVSQGTVFIF | WGPSSYMRRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GKGQVYNNLH | LLSQVLPRLK | AFMITRHKML | QFDELFKQET | GKDRKISNTW | LSTGWFTMTI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALELCDRINV | YGMVPPDFCR | DPNHPSVPYH | YYEPFGPDEC | TMYLSHERGR | KGSHHRFITE |
| 310 | 320 | 330 | |||
| KRVFKNWART | FNIHFFQPDW | KPESLAINHP | ENKPVF |