Q9NXW9
PR
Gene name |
ALKBH4 |
Protein name |
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 |
Names |
Alkylated DNA repair protein alkB homolog 4, DNA N6-methyl adenine demethylase ALKBH4, Lysine-specific demethylase ALKBH4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54784 |
EC number |
1.14.11.51: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
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 Q9NXW9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NXW9-F1 | Predicted | AlphaFoldDB |
300 variants for Q9NXW9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4413361 rs768502722 |
2 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356093458 CA368711296 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA368711289 rs768502722 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562930786 CA4413358 |
4 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562930786 CA4413357 |
4 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778900603 CA163444243 |
5 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA4413356 rs778900603 |
5 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA4413355 rs771113604 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs544736620 CA4413352 |
6 | A>T | Variant assessed as Somatic; 7.521e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA368711239 rs756342230 |
7 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413351 rs756342230 |
7 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748479523 CA368711218 |
8 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413350 rs748479523 |
8 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163444184 rs971073515 |
9 | P>S | No |
ClinGen gnomAD |
|
|
rs531508990 CA4413348 |
10 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs755472789 CA4413346 |
11 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368711190 rs755472789 |
11 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413347 rs755472789 |
11 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263904371 CA368711174 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368711165 rs1232837720 |
13 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1295159092 CA368711144 |
14 | E>D | No |
ClinGen gnomAD |
|
|
CA4413344 rs764782601 |
14 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764782601 CA4413345 |
14 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1342689404 CA368711147 |
14 | E>V | No |
ClinGen TOPMed |
|
|
CA368711138 rs1325281403 |
15 | C>G | No |
ClinGen gnomAD |
|
|
rs372579394 CA4413342 |
16 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202159964 CA163444144 |
17 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4413340 rs202159964 |
17 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368711105 rs1241800988 |
18 | K>Q | No |
ClinGen TOPMed |
|
|
CA4413339 rs775177804 |
18 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1461597091 CA368711097 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA4413338 rs767311477 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156281115 CA368711069 |
21 | R>W | No |
ClinGen gnomAD |
|
|
rs759442909 CA4413337 |
23 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368711021 rs1431240537 |
25 | I>L | No |
ClinGen gnomAD |
|
|
CA4413336 rs143763401 |
26 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1213337549 CA368710992 |
27 | E>G | No |
ClinGen gnomAD |
|
|
CA4413335 rs771203041 |
28 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA368710974 rs749384558 |
29 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413333 rs139740413 |
30 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350673918 CA368710963 |
31 | G>D | No |
ClinGen gnomAD |
|
|
CA368710955 rs1586734526 |
32 | S>R | No |
ClinGen Ensembl |
|
|
rs1586734522 CA368710950 |
33 | D>A | No |
ClinGen Ensembl |
|
|
rs770165043 CA4413332 |
33 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1241735237 CA368710932 |
36 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755352256 CA4413329 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769890453 CA4413311 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA368709921 rs1480156543 |
44 | Y>C | No |
ClinGen TOPMed |
|
|
CA4413309 rs776903964 |
44 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4413307 rs747384950 |
45 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4413306 rs377627772 |
45 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772596794 CA4413305 |
47 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368709837 rs777313140 |
51 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777313140 CA4413303 |
51 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777313140 CA368709836 |
51 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012797111 CA163436477 |
53 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368709803 rs1461737916 |
53 | G>V | No |
ClinGen TOPMed |
|
|
CA368709775 rs1212148982 |
55 | A>G | No |
ClinGen gnomAD |
|
|
CA4413300 rs780903673 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368709743 rs1586730122 |
56 | V>G | No |
ClinGen Ensembl |
|
|
rs751425937 CA4413298 |
56 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368709720 rs1213668449 |
58 | T>A | No |
ClinGen gnomAD |
|
|
CA163436464 rs890038006 |
58 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1302020983 CA368709675 |
60 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368709670 rs1371718494 |
60 | E>A | No |
ClinGen TOPMed |
|
|
rs138120612 CA4413296 |
61 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138120612 CA4413295 |
61 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4413293 rs761952385 |
65 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776513318 CA4413292 |
67 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1272307282 CA368709513 |
67 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs150430613 CA163436400 |
68 | F>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA368709474 rs1252157988 |
69 | P>A | No |
ClinGen TOPMed |
|
|
rs201291827 CA4413290 |
72 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1586730072 CA368709370 |
73 | V>G | No |
ClinGen Ensembl |
|
|
CA368709346 rs1191902575 |
74 | M>I | No |
ClinGen TOPMed |
|
|
rs1420481935 CA368709353 |
74 | M>T | No |
ClinGen gnomAD |
|
|
rs1028961053 CA163436382 |
75 | L>P | No |
ClinGen TOPMed |
|
|
CA368709313 rs1474272641 |
76 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374986505 CA163436373 |
77 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775872372 CA4413289 |
77 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413287 rs746433069 |
78 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4413288 rs746433069 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368709189 rs141453839 |
82 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4413286 rs141453839 |
82 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163436356 rs901314579 |
82 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780522763 CA4413283 |
87 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751229861 CA163436322 |
90 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413281 rs751229861 |
90 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4413282 rs754692846 |
90 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4413279 rs758259285 |
91 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1297454488 CA368708977 |
92 | M>T | No |
ClinGen TOPMed |
|
|
rs761603217 CA4413276 |
93 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750172385 CA4413278 |
93 | D>N | No |
ClinGen ExAC |
|
|
CA4413277 rs761603217 |
93 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4413275 rs138972661 |
94 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4413273 rs760935990 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176756893 CA368708776 |
101 | Q>H | No |
ClinGen gnomAD |
|
|
rs550074156 CA4413272 |
101 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4413269 rs774523789 |
104 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413270 rs200171844 |
104 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211553915 CA368708715 |
105 | R>W | No |
ClinGen gnomAD |
|
|
CA368707230 rs1304609534 |
109 | Y>C | No |
ClinGen gnomAD |
|
|
rs1164195846 CA368707238 |
109 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4413248 rs773582514 |
110 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA368707209 rs1267116163 |
110 | G>V | No |
ClinGen TOPMed |
|
|
rs1431507499 CA368707191 |
111 | P>S | No |
ClinGen gnomAD |
|
|
CA163435104 rs990345741 |
112 | K>Q | No |
ClinGen TOPMed |
|
|
CA368707055 rs746526275 |
116 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413246 rs746526275 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413247 rs770354905 |
116 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368706957 rs1175252974 |
122 | T>N | No |
ClinGen gnomAD |
|
|
rs1586728542 CA368706960 |
122 | T>P | No |
ClinGen Ensembl |
|
|
rs771879708 CA4413244 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs372968103 CA4413243 |
124 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187053034 CA368706914 |
124 | G>V | No |
ClinGen gnomAD |
|
|
rs905500216 CA163435049 |
126 | C>F | No |
ClinGen gnomAD |
|
|
rs756988873 CA4413241 |
127 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388274601 CA368706788 |
130 | S>G | No |
ClinGen TOPMed |
|
|
CA4413239 rs777693015 |
131 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755988242 CA4413238 |
132 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767547465 CA4413236 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752798925 CA4413237 |
133 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413234 rs751712118 |
136 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145100726 COSM484545 CA4413232 |
137 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4413233 rs766828985 |
137 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200281388 CA163435003 |
138 | R>S | No |
ClinGen Ensembl |
|
|
rs1460227846 CA368706643 |
139 | M>T | No |
ClinGen gnomAD |
|
|
CA368706653 rs1489037572 |
139 | M>V | No |
ClinGen TOPMed |
|
|
CA163435002 rs940806133 |
140 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4413230 rs765858185 |
143 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413231 rs773564381 |
143 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA163434965 rs984847920 |
144 | G>W | No |
ClinGen Ensembl |
|
|
rs141457125 CA4413228 |
145 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368706523 rs1193728290 |
146 | E>Q | No |
ClinGen gnomAD |
|
|
CA368706500 rs1586728380 |
147 | G>A | No |
ClinGen Ensembl |
|
|
rs564272056 CA4413226 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771683787 CA4413227 |
149 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368706441 rs1228681558 |
150 | P>S | No |
ClinGen gnomAD |
|
|
rs146632975 CA4413223 |
151 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769756616 CA4413221 |
152 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769756616 CA368706394 |
152 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413220 rs748049809 |
154 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143796434 CA4413219 |
154 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368706250 rs1467027860 |
157 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs555762247 CA4413217 |
158 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368706195 rs1475214650 |
159 | C>* | No |
ClinGen gnomAD |
|
|
CA163434922 rs376888079 |
159 | C>R | No |
ClinGen ESP gnomAD |
|
|
CA163434921 rs990314479 |
159 | C>Y | No |
ClinGen TOPMed |
|
|
CA368706181 rs1419394662 |
160 | P>L | No |
ClinGen gnomAD |
|
|
rs566861172 CA4413215 |
161 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4413214 rs372884323 |
162 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163434902 rs955850961 |
162 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4413213 rs372884323 |
162 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4413212 rs762457906 |
163 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586728283 CA368706074 |
164 | S>F | No |
ClinGen Ensembl |
|
|
rs1414519977 CA368706058 |
165 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4413208 rs148824415 |
166 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368706041 rs148824415 |
166 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758972636 CA4413209 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368706026 rs1586728246 |
167 | D>A | No |
ClinGen Ensembl |
|
|
rs758269134 CA4413207 |
168 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368706010 rs758269134 |
168 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705995 rs1325058506 |
170 | L>P | No |
ClinGen gnomAD |
|
|
rs769556971 CA4413204 |
172 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705922 rs1452473262 |
173 | A>T | No |
ClinGen gnomAD |
|
|
CA163434828 rs1027485108 COSM3698075 |
173 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1363974238 CA368705900 |
174 | W>L | No |
ClinGen gnomAD |
|
|
rs1183556457 CA368705872 |
175 | L>R | No |
ClinGen gnomAD |
|
|
CA4413202 rs768575424 |
176 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413201 CA163434818 rs768575424 |
176 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413203 rs748144049 |
176 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747077407 CA368705827 |
177 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747077407 CA4413200 |
177 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705804 rs1307658114 |
178 | E>* | No |
ClinGen TOPMed |
|
|
rs770193138 CA4413198 |
179 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780138893 CA4413199 |
179 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4413195 rs779476709 |
181 | V>G | No |
ClinGen ExAC |
|
|
rs1350070559 CA368705751 |
181 | V>I | No |
ClinGen gnomAD |
|
|
CA163434779 rs940938675 |
182 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368705722 rs940938675 |
182 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368705710 rs1441425173 |
183 | L>F | No |
ClinGen gnomAD |
|
|
CA368705690 rs1586728101 |
184 | N>T | No |
ClinGen Ensembl |
|
|
CA4413193 rs754187626 |
185 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748471572 CA163434768 |
186 | L>P | No |
ClinGen Ensembl |
|
|
rs748471572 CA163434761 |
186 | L>R | No |
ClinGen Ensembl |
|
|
CA4413191 rs761195979 |
187 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705630 rs761195979 |
187 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765883433 CA4413189 |
188 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765883433 CA4413190 |
188 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1040263036 CA163434738 |
189 | T>A | No |
ClinGen TOPMed |
|
|
CA4413187 rs765086767 |
190 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413186 rs765086767 |
190 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368705568 rs1248913610 |
192 | S>Y | No |
ClinGen gnomAD |
|
|
CA368705553 rs1262508282 |
193 | M>I | No |
ClinGen gnomAD |
|
|
CA4413184 rs776356439 |
193 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs911912295 CA163434725 |
193 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368705548 rs946463504 |
194 | C>G | No |
ClinGen TOPMed |
|
|
rs946463504 CA163434721 |
194 | C>R | No |
ClinGen TOPMed |
|
|
CA368705528 rs1329972545 |
195 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4413183 rs548994210 |
195 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368705496 rs1234695042 |
198 | P>S | No |
ClinGen gnomAD |
|
|
CA4413180 rs369932361 |
199 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969828054 CA163434695 |
202 | L>P | No |
ClinGen Ensembl |
|
|
rs1412428338 CA368705420 |
204 | C>F | No |
ClinGen gnomAD |
|
|
rs1313136343 CA368705408 |
205 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1374434990 CA368705414 |
205 | S>T | No |
ClinGen gnomAD |
|
|
CA368705402 rs1427701610 |
206 | A>V | No |
ClinGen gnomAD |
|
|
CA163434683 rs372354272 |
207 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4413177 rs757496182 |
207 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163434663 rs544559313 |
208 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1211097408 CA368705390 |
209 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1211097408 CA368705392 |
209 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756621345 CA4413174 |
210 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4413172 rs752637000 |
211 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752637000 CA4413173 |
211 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163434650 rs972084738 |
212 | E>G | No |
ClinGen TOPMed |
|
|
rs1586727891 CA368705352 |
215 | V>G | No |
ClinGen Ensembl |
|
|
rs1280053941 CA368705357 |
215 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4413169 rs532776076 |
218 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368705315 rs1293454822 |
221 | P>S | No |
ClinGen gnomAD |
|
|
CA4413167 rs776327610 |
223 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs562211133 CA4413168 |
223 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760585592 CA368705297 |
224 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs760585592 CA4413165 |
224 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417250363 CA368705292 |
225 | V>G | No |
ClinGen gnomAD |
|
|
CA368705286 rs1473885940 |
226 | L>P | No |
ClinGen gnomAD |
|
|
CA368705288 rs1182584344 |
226 | L>V | No |
ClinGen gnomAD |
|
|
rs1331418031 CA368705283 |
227 | C>R | No |
ClinGen TOPMed |
|
|
rs1231434247 CA368705281 |
227 | C>Y | No |
ClinGen gnomAD |
|
|
rs1586727796 CA368705243 |
232 | V>G | No |
ClinGen Ensembl |
|
|
rs1458065251 CA368705240 |
233 | A>T | No |
ClinGen gnomAD |
|
|
CA4413162 rs745957475 |
236 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413161 rs774524165 |
237 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163434581 rs778737084 |
237 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778050169 CA4413158 |
238 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413159 rs778050169 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413157 rs150409598 |
239 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754992172 CA4413156 |
239 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368705205 rs754992172 |
239 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4413155 rs781726622 |
242 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755424082 CA4413154 |
243 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1450870132 CA368705174 |
245 | T>I | No |
ClinGen TOPMed |
|
|
CA4413150 rs555966568 CA4413151 |
246 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_061004 CA4413148 rs41275227 |
247 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
rs767584826 CA4413146 |
249 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1231656329 CA368705137 |
251 | Q>H | No |
ClinGen gnomAD |
|
|
CA368705121 rs1467955871 |
253 | K>N | No |
ClinGen gnomAD |
|
|
rs1247254856 CA368705112 |
254 | H>Q | No |
ClinGen gnomAD |
|
|
CA368705096 rs1314634485 |
257 | H>Y | No |
ClinGen gnomAD |
|
|
rs774673696 CA4413144 |
258 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs774673696 CA368705090 |
258 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4413143 rs771299364 |
258 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705068 rs1347706857 |
261 | I>T | No |
ClinGen TOPMed |
|
|
CA4413140 rs372663274 |
261 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4413137 rs145230697 |
262 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4413136 rs145230697 |
262 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778482855 CA4413135 |
263 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158557815 CA368705052 |
264 | R>C | No |
ClinGen gnomAD |
|
|
CA368705050 rs756909709 |
264 | R>H | No |
ClinGen ExAC |
|
|
rs756909709 CA4413134 |
264 | R>L | No |
ClinGen ExAC |
|
|
rs777325120 CA4413133 |
265 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777325120 CA4413132 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755629098 CA4413131 |
265 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4413128 rs759354371 |
266 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766639597 CA4413126 |
268 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368705028 rs1210298433 |
269 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763229650 CA4413125 |
269 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4413122 rs560580334 |
271 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769890779 CA4413123 |
271 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777078094 CA4413121 |
274 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368704998 rs1311988544 |
274 | S>P | No |
ClinGen gnomAD |
|
|
CA4413119 rs747309640 |
276 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769167643 CA4413120 |
276 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA368704973 rs1362645425 |
278 | G>R | No |
ClinGen gnomAD |
|
|
CA4413118 rs780395093 |
280 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1359525964 CA368704957 |
281 | G>R | No |
ClinGen gnomAD |
|
|
rs748948872 CA4413116 |
289 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4413115 rs777331990 |
291 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755610154 CA368704885 |
292 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761966095 CA4413113 |
292 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755610154 CA4413114 |
292 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163434279 rs371943941 |
294 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371943941 COSM1083497 CA4413111 |
294 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751610772 CA368704870 |
295 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751610772 CA4413110 |
295 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA368704868 rs1586727423 |
295 | L>P | No |
ClinGen Ensembl |
|
|
CA4413109 rs766260358 |
298 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA368704845 rs758173603 |
299 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA4413108 rs758173603 |
299 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4413107 rs750623687 |
300 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1297248460 CA368704827 |
301 | P>L | No |
ClinGen TOPMed |
|
|
rs141300734 CA4413105 COSM1244845 |
302 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
No associated diseases with Q9NXW9
No regional properties for Q9NXW9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NXW9 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.51 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| contractile ring | A cytoskeletal structure composed of filamentous protein that forms beneath the membrane of many cells or organelles, in the plane of cell or organelle division. Ring contraction is associated with centripetal growth of the membrane that divides the cytoplasm of the two daughter cells or organelles. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2-oxoglutarate-dependent dioxygenase activity | Catalysis of the reaction: A + 2-oxoglutarate + O2 = B + succinate + CO2. This is an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from 2-oxoglutarate and one other donor, and one atom of oxygen is incorporated into each donor. |
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| demethylase activity | Catalysis of the removal of a methyl group from a substrate. |
| metal ion binding | Binding to a metal ion. |
| oxidative DNA demethylase activity | Catalysis of the reaction: a methylated nucleobase within DNA + 2-oxoglutarate + O(2) = a nucleobase within DNA + formaldehyde + succinate + CO(2). |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| cleavage furrow ingression | Advancement of the cleavage furrow from the outside of the cell inward towards the center of the cell. The cleavage furrow acts as a 'purse string' which draws tight to separate daughter cells during cytokinesis and partition the cytoplasm between the two daughter cells. The furrow ingresses until a cytoplasmic bridge is formed. |
| DNA demethylation | The removal of a methyl group from one or more nucleotides within an DNA molecule. |
| oxidative demethylation | The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate. |
| protein demethylation | The removal of a methyl group, from a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom. |
| regulation of chromatin organization | Any process that modulates the frequency, rate or extent of chromatin organization. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAAETPE | VLRECGCKGI | RTCLICERQR | GSDPPWELPP | AKTYRFIYCS | DTGWAVGTEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SDFEGWAFPF | PGVMLIEDFV | TREEEAELVR | LMDRDPWKLS | QSGRRKQDYG | PKVNFRKQKL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KTEGFCGLPS | FSREVVRRMG | LYPGLEGFRP | VEQCNLDYCP | ERGSAIDPHL | DDAWLWGERL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSLNLLSPTV | LSMCREAPGS | LLLCSAPSAA | PEALVDSVIA | PSRSVLCQEV | EVAIPLPARS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLVLTGAARH | QWKHAIHRRH | IEARRVCVTF | RELSAEFGPG | GRQQELGQEL | LRIALSFQGR |
| PV |