Q9HA64
PR
Gene name |
FN3KRP |
Protein name |
Ketosamine-3-kinase |
Names |
Fructosamine-3-kinase-related protein, FN3K-RP, FN3K-related protein, Protein-psicosamine 3-kinase FN3KRP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79672 |
EC number |
2.7.1.172: Phosphotransferases with an alcohol group as acceptor |
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 Q9HA64
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HA64-F1 | Predicted | AlphaFoldDB |
330 variants for Q9HA64
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA295260349 rs976511691 |
2 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8860696 rs374236465 |
2 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401622883 rs976511691 |
2 | E>K | No |
ClinGen TOPMed |
|
|
rs1294674673 CA401622915 |
3 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1294674673 CA401622918 |
3 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368407230 CA401622907 |
3 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860697 rs368407230 |
3 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401622935 rs1204588713 |
4 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401622938 rs1249676009 |
4 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401622940 rs1249676009 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1182727886 CA401622946 |
5 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA295260384 rs978537671 |
6 | R>G | No |
ClinGen gnomAD |
|
|
CA8860699 rs758945172 |
6 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860701 rs764638305 |
7 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8860702 rs755643968 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8860700 rs764638305 |
7 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs748958920 CA8860704 |
8 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397944852 CA401623013 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8860705 rs754797996 |
10 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA401623044 rs573333278 |
11 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401623055 rs1243148633 |
12 | S>I | No |
ClinGen gnomAD |
|
|
rs772023434 CA8860708 |
13 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401623104 rs1273290776 |
16 | A>D | No |
ClinGen TOPMed |
|
|
CA401623107 rs773096689 |
17 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282174729 CA401623113 |
17 | T>R | No |
ClinGen TOPMed |
|
|
CA8860709 rs773096689 |
17 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481619040 CA401623126 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs1196449459 CA401623130 |
19 | H>N | No |
ClinGen gnomAD |
|
|
rs770978856 CA401623151 |
20 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs770978856 CA8860713 |
20 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA8860718 rs763360394 |
21 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860716 rs765305815 |
21 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765305815 CA8860717 |
21 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191224552 CA295260487 |
22 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA401623171 rs1166572913 |
22 | G>D | No |
ClinGen gnomAD |
|
|
rs191224552 CA8860719 |
22 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8860720 rs752080042 |
23 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401623179 rs1462112663 |
23 | G>R | No |
ClinGen gnomAD |
|
|
CA8860721 rs755745895 |
24 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860722 rs765909937 |
24 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550636711 CA8860723 |
26 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200062745 CA8860725 |
27 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1004432960 CA295260511 |
27 | Q>R | No |
ClinGen Ensembl |
|
|
rs752571850 CA8860726 |
28 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8860727 rs758160781 |
28 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs138953335 CA401623255 |
29 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138953335 CA8860729 |
29 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401623253 rs1343170062 |
29 | R>W | No |
ClinGen gnomAD |
|
|
CA295260538 rs997795753 |
30 | S>I | No |
ClinGen gnomAD |
|
|
rs376480630 CA8860731 |
32 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA295260555 rs1028045197 |
33 | T>M | No |
ClinGen gnomAD |
|
|
CA401623317 rs1197597266 |
34 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8860732 rs745873900 |
34 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197070060 CA401623326 |
35 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8860733 rs149332044 |
36 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401623351 rs775533991 |
37 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775533991 CA8860734 |
37 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763449059 CA8860736 |
37 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8860735 rs763449059 |
37 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs763449059 CA8860737 |
37 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1287360541 CA401623364 |
38 | V>G | No |
ClinGen TOPMed |
|
|
rs1209007642 CA401623375 |
39 | F>S | No |
ClinGen TOPMed |
|
|
rs1457096762 CA401623383 |
40 | V>M | No |
ClinGen gnomAD |
|
|
rs978568866 CA295260582 |
41 | K>Q | No |
ClinGen Ensembl |
|
|
CA8860739 rs767854325 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA295260588 rs202177012 |
44 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA295260592 rs202177012 |
44 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA401623436 rs1383223638 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361540502 CA401624262 |
50 | R>G | No |
ClinGen gnomAD |
|
|
rs28370891 CA295262293 |
50 | R>K | No |
ClinGen Ensembl |
|
|
rs1457650734 CA401624302 |
52 | F>C | No |
ClinGen TOPMed |
|
|
rs898855165 CA295262295 |
55 | E>V | No |
ClinGen Ensembl |
|
|
rs3748811 CA401624371 |
57 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401624367 rs755273992 |
57 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs755273992 CA8860772 |
57 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs3748811 VAR_034057 CA8860773 |
57 | A>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA401624376 rs1305187493 |
58 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748567989 CA8860774 |
58 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401624374 rs1305187493 |
58 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772306011 CA8860775 |
60 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401624409 rs1181682428 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA8860776 rs773830411 |
63 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA295262327 rs371922313 |
65 | T>R | No |
ClinGen ESP |
|
|
rs148310291 CA8860779 |
67 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148310291 CA8860780 |
67 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401624527 rs1385037732 |
70 | V>A | No |
ClinGen TOPMed |
|
|
CA401624519 rs1447521257 |
70 | V>M | No |
ClinGen gnomAD |
|
|
CA401624544 rs1334470536 |
72 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8860781 rs61743692 |
72 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401624541 rs1334470536 |
72 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8860785 rs369441626 |
78 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369441626 CA8860784 |
78 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397001410 CA401624641 |
79 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401624633 rs1396102731 |
79 | A>T | No |
ClinGen TOPMed |
|
|
rs1397001410 CA401624640 |
79 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8860786 rs767201531 |
80 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860789 rs373633086 |
82 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860788 rs373633086 |
82 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377059956 CA8860791 |
83 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860793 rs147707874 |
85 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA295262425 rs111421598 |
87 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8860795 rs111421598 |
87 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA295262428 rs963053083 |
88 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401624778 rs938713483 CA401624781 |
91 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs938713483 CA295262445 |
91 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401624793 rs1174459134 |
92 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8860797 rs771359781 |
93 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383917340 CA401624844 |
95 | H>L | No |
ClinGen gnomAD |
|
|
rs1057227860 CA295262450 |
97 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 97 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8860799 rs777080060 |
97 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs748836586 CA8860800 |
98 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA401625426 rs951878526 |
99 | H>N | No |
ClinGen TOPMed |
|
|
CA295263610 rs951878526 |
99 | H>Y | No |
ClinGen TOPMed |
|
|
rs1326517099 CA401625452 |
100 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs901910450 CA401625462 |
101 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs901910450 CA295263637 |
101 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401625465 rs1568059603 |
102 | K>* | No |
ClinGen Ensembl |
|
|
CA401625513 rs1280468990 |
105 | A>D | No |
ClinGen gnomAD |
|
|
CA401625518 rs1280468990 |
105 | A>V | No |
ClinGen gnomAD |
|
|
rs1359396204 CA401625532 |
106 | Q>L | No |
ClinGen gnomAD |
|
|
rs557244633 CA401625562 |
108 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8860839 rs751783183 |
108 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs557244633 CA295263646 |
108 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8860841 rs781530963 |
111 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416113954 CA401625673 |
114 | N>I | No |
ClinGen TOPMed |
|
|
CA295263648 rs370498197 |
114 | N>K | No |
ClinGen ESP |
|
|
CA401625686 rs1242251862 |
115 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs996750941 CA401625737 |
117 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA295263650 rs996750941 |
117 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401625772 rs1442715536 |
119 | E>D | No |
ClinGen gnomAD |
|
|
rs750718633 CA8860843 |
121 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1387529 CA8860844 rs756638100 |
121 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8860845 rs756638100 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860846 rs747651961 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771589335 CA8860847 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8860851 rs776584529 |
128 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA295265473 rs139582864 COSM3821071 |
130 | R>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139582864 CA8860891 |
130 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1038296991 CA295265478 |
131 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA295265484 rs897156457 |
132 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs897156457 CA401626741 |
132 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401626762 rs1568060817 |
133 | G>V | No |
ClinGen Ensembl |
|
|
CA295265495 rs181065000 |
134 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860895 rs201092965 |
137 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401626813 rs201092965 |
137 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8860894 rs201092965 |
137 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8860893 rs372059941 |
137 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171060309 CA401626823 |
138 | P>L | No |
ClinGen TOPMed |
|
|
CA8860897 rs772127645 |
139 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA8860896 rs748278731 |
139 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA401626853 rs1294409080 |
141 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs144422621 CA8860899 |
142 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374288236 CA8860900 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374288236 CA8860901 |
142 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374288236 CA295265519 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860898 rs144422621 |
142 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860903 rs375407644 |
143 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401626930 rs1229016576 |
147 | V>G | No |
ClinGen TOPMed |
|
|
rs1288962187 CA401626926 |
147 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1288962187 CA401626923 COSM252507 |
147 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8860908 rs139863997 |
149 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA295265555 rs1018547256 |
151 | C>R | No |
ClinGen Ensembl |
|
|
CA401627005 rs1598334285 |
153 | Y>* | No |
ClinGen Ensembl |
|
|
rs893353540 CA295265562 |
153 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8860910 rs779522933 |
153 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778881619 CA8860913 |
155 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191683466 CA401627035 |
156 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191683466 CA8860916 |
156 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA295265606 rs967016381 |
156 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1448605792 CA401627985 |
157 | V>M | No |
ClinGen gnomAD |
|
|
CA295268751 rs1003627866 |
158 | N>H | No |
ClinGen Ensembl |
|
|
CA8860937 rs757258512 |
158 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781532623 CA8860938 |
159 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1322374465 CA401628020 |
160 | W>* | No |
ClinGen gnomAD |
|
|
rs149862485 CA8860940 |
161 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860942 rs1555665206 |
162 | E>G | No |
ClinGen Ensembl |
|
|
CA8860941 rs776008795 |
162 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401628060 rs1241603424 |
163 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA401628057 rs1211373120 |
163 | D>G | No |
ClinGen gnomAD |
|
|
rs145864431 CA8860945 |
165 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1598336143 CA401628085 |
165 | V>G | No |
ClinGen Ensembl |
|
|
rs145864431 CA8860944 |
165 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401628091 rs760290548 |
166 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860947 rs760290548 |
166 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776142407 CA401628123 |
168 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1309149764 CA401628119 |
168 | Y>N | No |
ClinGen TOPMed |
|
|
CA8860949 rs776142407 |
168 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA401628131 rs1568062620 |
169 | A>S | No |
ClinGen Ensembl |
|
|
rs149116457 CA8860953 |
170 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8860952 rs149116457 |
170 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8860951 rs374765988 |
170 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200818001 CA8860955 |
171 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757421838 CA8860956 |
171 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8860957 rs182510567 |
172 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745901308 CA8860958 COSM986163 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8860959 rs756425999 |
174 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336449638 CA401628208 |
175 | P>H | No |
ClinGen TOPMed |
|
|
rs1446219938 CA401628233 |
177 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8860961 rs199990210 |
179 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8860963 rs200409311 |
182 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144986629 CA8860964 |
182 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8860966 rs376595214 |
186 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376595214 CA401628389 |
186 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142036101 CA8860967 |
187 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1442385420 CA401628416 |
188 | E>K | No |
ClinGen TOPMed |
|
|
CA401628440 rs1157761518 |
189 | A>P | No |
ClinGen gnomAD |
|
|
CA8860969 rs764913798 |
189 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8860970 rs148256328 |
190 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401628451 rs148256328 |
190 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8860972 rs763790127 |
191 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165189978 CA401628480 |
192 | L>F | No |
ClinGen gnomAD |
|
|
CA295268891 rs975654404 |
193 | W>* | No |
ClinGen TOPMed |
|
|
CA401628514 rs1306930858 |
194 | S>C | No |
ClinGen TOPMed |
|
|
CA8860974 rs757154257 |
194 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA401628516 rs1306930858 |
194 | S>Y | No |
ClinGen TOPMed |
|
|
rs1380831214 CA401628527 |
195 | A>V | No |
ClinGen TOPMed |
|
|
CA401628547 rs1279292286 |
197 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401628549 rs1279292286 |
197 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771358908 CA8861005 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8861006 rs371279348 |
200 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8861007 rs748745004 |
201 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8861008 rs768222352 |
202 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA401628692 rs774023407 |
203 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM196755 CA401628712 rs1475904649 |
204 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8861011 rs138910887 |
205 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM437848 CA8861012 rs111958189 |
205 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138910887 CA401628717 |
205 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773076464 CA8861013 |
207 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341073821 CA401628759 |
208 | E>G | No |
ClinGen gnomAD |
|
|
CA401628772 rs1568062894 |
209 | I>V | No |
ClinGen Ensembl |
|
|
rs1334417602 CA401628807 |
212 | A>T | No |
ClinGen TOPMed |
|
|
rs939258008 CA295269186 |
215 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401628851 rs939258008 |
215 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8861017 rs754005412 |
216 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955013102 COSM1168843 CA295269195 |
217 | D>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs765429684 CA8861019 |
218 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765429684 CA8861020 |
218 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401628901 rs1256769359 |
219 | W>* | No |
ClinGen gnomAD |
|
|
CA401628918 rs1445974556 |
220 | G>D | No |
ClinGen gnomAD |
|
|
CA8861021 rs142718764 |
223 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401629018 rs1245398381 |
228 | S>P | No |
ClinGen TOPMed |
|
|
rs751860519 CA8861023 |
229 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8861025 rs556222572 |
230 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8861024 rs138064117 |
230 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990355272 CA295269208 |
231 | V>M | No |
ClinGen Ensembl |
|
|
CA8861027 rs374284375 |
232 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149354070 CA295269226 |
233 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401629108 rs1273283102 |
235 | P>R | No |
ClinGen TOPMed |
|
|
rs778487608 CA8861031 |
236 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778487608 CA401629115 |
236 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1321239467 CA401629130 |
237 | S>Y | No |
ClinGen gnomAD |
|
|
COSM1522726 CA401629160 rs1374117705 |
239 | Y>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8861035 rs746763211 |
240 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1680184 CA8861034 rs773166303 |
240 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1202888165 CA401629178 |
241 | H>N | No |
ClinGen gnomAD |
|
|
COSM1207345 CA8861036 rs771035632 |
242 | S>L | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771035632 CA8861037 |
242 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295269252 rs987460815 |
243 | E>* | No |
ClinGen TOPMed |
|
|
rs761908561 CA8861039 |
243 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1031813781 CA295269260 |
244 | Y>N | No |
ClinGen TOPMed |
|
|
rs13955 CA295269261 |
246 | L>P | No |
ClinGen gnomAD |
|
|
CA401629270 rs13955 |
246 | L>R | No |
ClinGen gnomAD |
|
|
rs775362232 CA8861040 |
248 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1378748085 CA401629301 |
248 | I>R | No |
ClinGen gnomAD |
|
|
CA401629294 rs1178666367 |
248 | I>V | No |
ClinGen gnomAD |
|
|
CA401629305 rs1156943470 |
249 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763247815 CA8861041 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA401629358 rs1281123871 |
251 | M>I | No |
ClinGen gnomAD |
|
|
CA8861042 rs138192916 |
251 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401629386 rs1168003421 |
253 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751950406 CA8861043 |
254 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751950406 CA401629404 |
254 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751950406 CA401629402 |
254 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401629433 rs1301670778 |
256 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA295269278 rs186935430 |
261 | S>P | No |
ClinGen Ensembl |
|
|
rs750927949 CA8861046 |
262 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295269297 rs939330330 |
263 | Y>* | No |
ClinGen Ensembl |
|
|
CA8861047 rs371276304 |
263 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401629585 rs61740984 |
264 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61740985 CA8861049 |
265 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA295269326 rs866335413 COSM1494073 |
265 | G>D | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA8861051 rs777539256 |
266 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928621999 CA295269347 |
267 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401629642 rs1439981727 |
268 | P>S | No |
ClinGen TOPMed |
|
|
rs539888673 CA295269360 |
269 | K>R | No |
ClinGen Ensembl |
|
|
CA8861052 rs746853114 |
270 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8861053 rs376337783 |
271 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401629723 rs148008327 |
273 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA295269382 rs11551833 |
274 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8861056 rs11551833 |
274 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401629726 rs11551833 |
274 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8861057 rs775658303 |
275 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1459595488 CA401629745 |
275 | K>N | No |
ClinGen gnomAD |
|
|
CA8861058 rs762977804 |
276 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764337681 CA8861059 COSM1680185 |
276 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8861060 rs774533005 |
277 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1409230142 CA401629765 |
277 | L>P | No |
ClinGen TOPMed |
|
|
rs762222117 CA8861061 |
278 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309894744 CA401629797 |
279 | L>F | No |
ClinGen gnomAD |
|
|
rs767863087 CA8861062 |
279 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1183535936 CA401629806 |
280 | Y>C | No |
ClinGen gnomAD |
|
|
CA401629833 rs1323155215 |
282 | L>F | No |
ClinGen gnomAD |
|
|
CA8861063 rs372015126 |
285 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8861065 rs766757190 |
286 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8861067 rs750901852 |
287 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750901852 CA295269407 |
287 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577164776 CA401629975 |
290 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577164776 CA8861068 |
290 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401629984 rs1220461227 |
291 | H>N | No |
ClinGen TOPMed |
|
|
rs756898501 CA8861070 |
294 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286146561 CA401630049 |
294 | S>P | No |
ClinGen TOPMed |
|
|
CA8861072 rs781050743 |
295 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8861071 rs781050743 |
295 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886932289 CA295269436 |
300 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401630179 rs1300567697 |
302 | N>S | No |
ClinGen gnomAD |
|
|
CA401630181 rs1300567697 |
302 | N>T | No |
ClinGen gnomAD |
|
|
rs749417778 CA401630207 |
303 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8861074 rs375591758 |
303 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401630242 rs1436084022 |
305 | R>K | No |
ClinGen TOPMed |
|
|
rs768707772 CA8861076 |
306 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315647881 CA401630331 CA401630328 |
309 | K>N | No |
ClinGen gnomAD |
|
|
CA401630348 rs1399256846 |
310 | K>C | No |
ClinGen TOPMed |
No associated diseases with Q9HA64
No regional properties for Q9HA64
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HA64 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.172 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| protein-ribulosamine 3-kinase activity | Catalysis of the reaction: ATP + a -N6-(3-O-phospho-D-ribulosyl)-L-lysine. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| post-translational protein modification | The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEELLRRELG | CSSVRATGHS | GGGCISQGRS | YDTDQGRVFV | KVNPKAEARR | MFEGEMASLT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AILKTNTVKV | PKPIKVLDAP | GGGSVLVMEH | MDMRHLSSHA | AKLGAQLADL | HLDNKKLGEM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLKEAGTVGR | GGGQEERPFV | ARFGFDVVTC | CGYLPQVNDW | QEDWVVFYAR | QRIQPQMDMV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKESGDREAL | QLWSALQLKI | PDLFRDLEII | PALLHGDLWG | GNVAEDSSGP | VIFDPASFYG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSEYELAIAG | MFGGFSSSFY | SAYHGKIPKA | PGFEKRLQLY | QLFHYLNHWN | HFGSGYRGSS |
| LNIMRNLVK |