Q9ULP0
PR
Gene name |
NDRG4 (BDM1, KIAA1180) |
Protein name |
Protein NDRG4 |
Names |
Brain development-related molecule 1, N-myc downstream-regulated gene 4 protein, Vascular smooth muscle cell-associated protein 8, SMAP-8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65009 |
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 Q9ULP0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ULP0-F1 | Predicted | AlphaFoldDB |
303 variants for Q9ULP0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1308092134 CA396133494 |
2 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1422880350 CA396133553 |
5 | W>C | No |
ClinGen TOPMed |
|
|
rs1567331544 CA396133543 |
5 | W>G | No |
ClinGen Ensembl |
|
|
CA8087246 rs762624308 CA396135619 |
10 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396135606 rs1597293317 |
10 | D>N | No |
ClinGen Ensembl |
|
|
rs144560470 CA8087247 |
11 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371008700 CA396135625 |
11 | I>V | No |
ClinGen Ensembl |
|
|
CA8087249 rs757619066 |
12 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1307339740 CA396135661 |
13 | T>I | No |
ClinGen gnomAD |
|
|
CA396135668 rs1466242306 |
14 | P>S | No |
ClinGen TOPMed |
|
|
CA8087252 rs756623435 |
15 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs750911191 CA8087251 |
15 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747496947 CA8087255 |
16 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749351617 CA8087254 |
16 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8087256 rs779283723 |
17 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1254429204 CA396135772 |
20 | V>I | No |
ClinGen gnomAD |
|
|
CA396135774 CA396135775 rs1254429204 |
20 | V>L | No |
ClinGen gnomAD |
|
|
CA8087258 rs148884288 |
23 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8087257 rs145564006 COSM1216897 |
23 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA396135873 rs1209337669 |
25 | S>F | No |
ClinGen gnomAD |
|
|
CA281651156 rs932983240 |
25 | S>P | No |
ClinGen TOPMed |
|
|
CA8087260 rs142554562 |
26 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527321934 CA8087262 |
27 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527321934 CA8087261 |
27 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527321934 CA396135900 |
27 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8087263 COSM971982 rs202237732 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8087264 rs200710260 |
30 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773985953 CA8087265 |
31 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396136051 rs1373404550 |
32 | A>V | No |
ClinGen gnomAD |
|
|
CA8087266 rs72790250 |
33 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8087267 rs767840538 |
34 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1237236806 CA396136116 |
36 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1468311830 CA396136165 |
37 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8087268 rs750787421 |
38 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8087270 rs766812164 |
41 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8087271 rs753890974 |
42 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA396136313 rs375101369 |
43 | H>D | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 43 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375101369 CA8087272 |
43 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs778828518 CA8087319 |
47 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748152133 CA8087320 |
48 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA396136952 rs1376630281 |
49 | T>S | No |
ClinGen gnomAD |
|
|
CA8087322 rs777392151 |
50 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303950726 CA396136965 |
50 | F>I | No |
ClinGen TOPMed |
|
|
CA281651815 rs11539298 |
50 | F>L | No |
ClinGen Ensembl |
|
|
rs777392151 CA396136973 |
50 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760614649 CA8087324 |
53 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1313340192 CA396137061 |
53 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA281651837 rs140675936 |
54 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 55 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8087326 rs144605894 |
55 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8087325 rs144605894 |
55 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770357090 CA8087327 |
56 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA281651883 rs964557480 |
57 | Q>H | No |
ClinGen Ensembl |
|
|
rs776133455 CA8087329 |
57 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438130542 CA396137163 |
59 | I>L | No |
ClinGen TOPMed |
|
|
rs1438130542 CA396137166 |
59 | I>V | No |
ClinGen TOPMed |
|
|
CA281651907 rs774086186 |
61 | K>Q | No |
ClinGen Ensembl |
|
|
CA8087331 rs373066270 |
61 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281651921 rs974544023 |
62 | H>R | No |
ClinGen Ensembl |
|
|
rs1413883584 CA396137245 |
65 | V>L | No |
ClinGen gnomAD |
|
|
CA281651931 rs766190219 |
67 | H>Y | No |
ClinGen Ensembl |
|
|
rs761895556 CA8087333 |
68 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8087332 rs753975630 |
68 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087335 rs753566438 |
70 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754766891 CA8087336 |
70 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1368733761 CA396137328 |
71 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281651993 rs765537264 |
74 | Q>E | No |
ClinGen Ensembl |
|
|
rs1213805806 CA396137387 |
75 | V>G | No |
ClinGen TOPMed |
|
|
rs930344828 CA281652002 |
75 | V>M | No |
ClinGen TOPMed |
|
|
rs752610984 CA8087338 |
76 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199301074 CA396137406 |
77 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1199301074 CA396137402 |
77 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377166077 CA8087339 COSM1216898 |
77 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 78 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746551027 CA8087341 |
78 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087343 rs377310977 |
80 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189405020 CA396137468 |
82 | Q>E | No |
ClinGen gnomAD |
|
|
rs770266993 CA8087345 |
83 | G>E | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8087344 rs745580875 |
83 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8087368 rs768982466 |
86 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396137600 rs1287967514 |
88 | S>F | No |
ClinGen gnomAD |
|
|
rs748663748 CA8087370 |
89 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773321994 CA8087372 |
90 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8087371 rs371828437 |
90 | E>K | No |
ClinGen ESP ExAC |
|
|
CA396137641 rs1276243258 |
91 | Q>H | No |
ClinGen TOPMed |
|
|
rs1259507060 CA396137632 |
91 | Q>K | No |
ClinGen gnomAD |
|
|
CA396137644 rs1443666860 |
92 | L>V | No |
ClinGen gnomAD |
|
|
CA396137653 rs1357487979 |
93 | A>T | No |
ClinGen TOPMed |
|
|
CA8087374 rs771165117 |
94 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396137696 rs1442444709 |
95 | M>I | No |
ClinGen gnomAD |
|
|
CA396137753 rs1158588251 |
99 | V>A | No |
ClinGen gnomAD |
|
|
rs145919586 CA8087377 |
99 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396137769 rs1383376156 |
100 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8087378 rs751500566 |
101 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs369106170 CA8087380 CA396137874 |
104 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392619443 CA396138716 |
105 | F>I | No |
ClinGen gnomAD |
|
|
CA396138730 rs1387076423 |
105 | F>L | No |
ClinGen gnomAD |
|
|
CA8087413 rs746068322 |
106 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs138258417 CA281652634 |
108 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1224581702 CA396138851 |
109 | I>L | No |
ClinGen TOPMed |
|
|
rs772063686 CA8087416 |
109 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087415 rs747967030 |
109 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266788402 CA396138979 |
111 | I>F | No |
ClinGen gnomAD |
|
|
CA8087419 rs778690374 |
112 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA396139012 rs1210771270 |
112 | G>R | No |
ClinGen gnomAD |
|
|
rs776038643 CA8087420 |
114 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8087421 rs554165602 |
115 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8087423 COSM3716968 rs375498784 COSM3716969 COSM1609457 |
116 | G>R | liver Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA233350 rs606231463 RCV000148932 |
119 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA281652699 rs606231463 |
119 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298663071 CA396139320 |
121 | A>V | No |
ClinGen gnomAD |
|
|
CA396139337 rs1360679931 |
122 | K>R | No |
ClinGen gnomAD |
|
|
CA396139398 rs1379979002 |
123 | F>L | No |
ClinGen gnomAD |
|
|
CA281652759 rs894019953 |
123 | F>S | No |
ClinGen Ensembl |
|
|
CA396141092 rs1181286162 |
125 | L>V | No |
ClinGen gnomAD |
|
|
rs747720542 CA8087530 |
128 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA281655161 rs528218036 |
129 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs149622804 CA396141208 |
129 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149622804 CA8087532 |
129 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242086244 CA396141246 |
130 | L>R | No |
ClinGen gnomAD |
|
|
CA8087533 rs202187081 |
131 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1646008 CA281655163 |
131 | V>L | No |
ClinGen gnomAD |
|
|
CA396141264 rs1646008 |
131 | V>M | No |
ClinGen gnomAD |
|
|
rs1597324017 CA396141356 |
135 | V>G | No |
ClinGen Ensembl |
|
|
CA396141353 rs1365892919 |
135 | V>L | No |
ClinGen gnomAD |
|
|
rs1365892919 CA396141345 |
135 | V>M | No |
ClinGen gnomAD |
|
|
CA396141438 rs114765275 |
139 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396141445 rs1597324122 |
140 | D>A | No |
ClinGen Ensembl |
|
|
CA396141439 rs1158495088 |
140 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1416187728 CA396141510 |
142 | N>S | No |
ClinGen gnomAD |
|
|
CA8087535 rs148326437 |
146 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597324214 CA396141677 |
149 | W>R | No |
ClinGen Ensembl |
|
|
CA281655176 rs896031026 |
151 | A>T | No |
ClinGen Ensembl |
|
|
CA281655328 rs1007112721 |
155 | S>C | No |
ClinGen Ensembl |
|
|
CA8087567 rs765224845 |
156 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA396141965 rs1268274026 |
158 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8087569 rs551166278 |
159 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 160 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281655363 rs1025302907 |
161 | L>S | No |
ClinGen Ensembl |
|
|
rs777199381 CA396142035 |
162 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777199381 CA8087570 |
162 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM971986 CA8087572 rs757000349 |
163 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8087573 rs781648468 |
164 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302399415 CA396142084 |
165 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8087575 rs770127347 |
167 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs780603051 CA8087576 |
168 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749813518 CA8087577 |
170 | F>V | No |
ClinGen ExAC |
|
|
rs1338327497 CA396142303 |
176 | V>M | No |
ClinGen gnomAD |
|
|
rs917431180 CA281655743 |
179 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 180 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762898432 CA8087609 |
180 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs967560947 CA396142434 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
rs967560947 CA281655756 |
185 | Y>S | No |
ClinGen gnomAD |
|
|
CA281655767 rs761399816 |
186 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761399816 CA8087612 |
186 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087611 rs773931579 |
186 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396142478 rs1236924803 |
188 | Q>E | No |
ClinGen gnomAD |
|
|
rs914460296 CA396142521 |
190 | G>A | No |
ClinGen TOPMed |
|
|
rs914460296 CA396142517 |
190 | G>E | No |
ClinGen TOPMed |
|
|
rs767190492 CA8087613 |
190 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA281655771 rs914460296 |
190 | G>V | No |
ClinGen TOPMed |
|
|
CA8087616 rs766720625 |
192 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396142584 rs1446171760 |
194 | N>S | No |
ClinGen TOPMed |
|
|
CA8087618 rs755450175 |
196 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA281655814 rs755450175 |
196 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417198115 CA396142623 |
197 | N>H | No |
ClinGen gnomAD |
|
|
rs533781343 CA281655816 |
197 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8087620 rs779392906 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777872749 CA396142673 |
199 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283516783 CA396142693 |
201 | F>L | No |
ClinGen Ensembl |
|
|
rs747216123 CA8087623 |
204 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA396142755 rs1357803034 |
204 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373300942 CA396142767 |
205 | Y>C | No |
ClinGen gnomAD |
|
|
rs1299275712 CA396142764 |
205 | Y>H | No |
ClinGen gnomAD |
|
|
CA396142774 rs1408516388 |
206 | N>T | No |
ClinGen gnomAD |
|
|
CA396142782 rs1235788309 |
207 | S>N | No |
ClinGen TOPMed |
|
|
CA8087652 COSM106728 rs148777079 |
208 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs770532411 CA8087653 |
208 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA396143895 rs1424556650 |
209 | R>K | No |
ClinGen gnomAD |
|
|
rs776129060 CA8087654 |
209 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759230853 CA8087655 |
210 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1431763224 CA396143945 |
211 | L>V | No |
ClinGen gnomAD |
|
|
rs765549082 CA8087656 |
214 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150978842 CA396144080 |
215 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150978842 CA281658881 |
215 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8087658 rs150978842 |
215 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753085219 CA8087657 |
215 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396144097 rs1168025203 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs139921346 CA8087660 |
217 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1709235 CA8087661 rs200391051 |
218 | T>M | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA281658895 rs752354307 |
221 | N>S | No |
ClinGen Ensembl |
|
|
rs1247275785 CA396144251 |
223 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144494221 CA8087663 |
224 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs544767378 CA8087665 |
226 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747962991 CA8087666 |
226 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754171263 CA8087688 |
227 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746885112 CA8087691 |
229 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281658951 rs777227902 |
232 | V>L | No |
ClinGen TOPMed |
|
|
rs1336327224 CA396144599 |
233 | V>A | No |
ClinGen gnomAD |
|
|
CA8087692 rs757243881 |
233 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1441370270 CA396144614 |
234 | G>R | No |
ClinGen gnomAD |
|
|
rs963481901 CA281658954 |
236 | N>S | No |
ClinGen TOPMed |
|
|
CA396144690 rs1276698262 |
237 | A>V | No |
ClinGen TOPMed |
|
|
CA396144701 rs1324981057 |
238 | P>R | No |
ClinGen gnomAD |
|
|
CA396144717 rs149936678 |
239 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149936678 CA8087695 |
239 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355406347 CA396144739 |
240 | E>K | No |
ClinGen Ensembl |
|
|
CA8087696 rs371654128 |
241 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200568789 CA8087698 |
242 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1597336331 CA396144850 |
243 | V>G | No |
ClinGen Ensembl |
|
|
CA396145100 rs1597342314 |
244 | V>G | No |
ClinGen Ensembl |
|
|
rs1367421164 CA396145123 |
245 | E>G | No |
ClinGen gnomAD |
|
|
CA396145246 rs1425202382 |
249 | K>R | No |
ClinGen gnomAD |
|
|
rs771099054 CA8087723 |
250 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776876917 CA8087724 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8087726 rs765504411 |
253 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1272798248 CA396145391 |
255 | T>A | No |
ClinGen TOPMed |
|
|
CA396145396 rs1295828220 |
255 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396145617 rs1244751411 |
260 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396145612 rs1244751411 |
260 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776788334 CA8087744 |
261 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396145873 rs1372552505 |
269 | V>L | No |
ClinGen TOPMed |
|
|
rs1361384190 CA396146060 |
272 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396146083 rs1298927423 |
273 | G>E | No |
ClinGen gnomAD |
|
|
CA8087773 rs140912343 |
274 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396146147 rs1344746237 |
276 | T>S | No |
ClinGen TOPMed |
|
|
rs764758742 CA8087775 |
278 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396146284 rs1224139336 |
281 | Y>C | No |
ClinGen gnomAD |
|
|
CA396146339 rs1268965775 |
282 | F>L | No |
ClinGen gnomAD |
|
|
rs752166461 CA8087776 |
286 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087777 rs758060720 |
286 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA396146438 rs1423523829 |
287 | G>S | No |
ClinGen gnomAD |
|
|
CA396146493 rs1430616381 |
288 | Y>D | No |
ClinGen gnomAD |
|
|
CA281659949 rs771075190 |
289 | I>S | No |
ClinGen Ensembl |
|
|
rs993055627 CA396147582 |
290 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs993055627 CA281659952 |
290 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs955390692 CA281659958 |
294 | D>E | No |
ClinGen gnomAD |
|
|
rs1008142797 CA281659962 |
295 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396147646 rs1285723384 |
295 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396147644 rs1285723384 |
295 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1329508794 CA396147648 |
296 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA281659965 rs948893147 |
296 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396147669 rs1336386282 |
297 | L>R | No |
ClinGen TOPMed |
|
|
CA396147712 rs1231943020 |
301 | A>G | No |
ClinGen gnomAD |
|
|
rs765095249 CA8087794 |
301 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA396147703 rs765095249 |
301 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353949206 CA396147715 |
302 | V>M | No |
ClinGen TOPMed |
|
|
rs1173006919 CA396147969 |
307 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396147952 rs1481530584 |
307 | M>V | No |
ClinGen gnomAD |
|
|
rs1412697390 CA396147996 |
309 | R>C | No |
ClinGen gnomAD |
|
|
CA8087807 rs370628261 |
309 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396148026 rs1295384133 |
311 | A>T | No |
ClinGen gnomAD |
|
|
CA396148035 rs1370665910 |
311 | A>V | No |
ClinGen gnomAD |
|
|
CA8087808 rs375451114 |
312 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285884737 CA396148050 |
312 | R>H | No |
ClinGen gnomAD |
|
|
rs1285884737 CA396148054 |
312 | R>L | No |
ClinGen gnomAD |
|
|
rs780977369 CA8087809 |
313 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs745649023 CA281660273 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745649023 CA8087810 |
314 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA396148082 rs1199266540 |
314 | R>H | No |
ClinGen gnomAD |
|
|
CA281660276 rs143311381 |
316 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs1204590394 CA396148134 |
317 | S>F | No |
ClinGen gnomAD |
|
|
CA8087811 rs769691264 |
318 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763021718 CA8087813 |
319 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774016849 CA8087815 |
320 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396148185 rs1319804457 |
320 | S>I | No |
ClinGen gnomAD |
|
|
rs879136307 CA281660288 |
321 | A>T | No |
ClinGen Ensembl |
|
|
rs201276488 CA8087816 |
323 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8087818 rs750154800 |
326 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs368350293 CA8087819 |
328 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366823690 CA396148438 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA396148497 rs1387007224 |
330 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1387007224 CA396148495 |
330 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1567361695 CA396148535 |
331 | A>T | No |
ClinGen Ensembl |
|
|
rs766808673 CA8087821 |
334 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs766808673 CA8087820 |
334 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396148703 rs912276301 |
335 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755497938 CA8087822 |
335 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281660305 rs912276301 |
335 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396148797 rs1272587658 |
338 | S>G | No |
ClinGen gnomAD |
|
|
rs535312481 CA8087824 |
338 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs918762728 CA281660313 |
339 | E>K | No |
ClinGen TOPMed |
|
|
rs777846974 CA8087826 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs758575730 CA8087825 |
340 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8087828 rs769442280 |
342 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8087829 rs140247906 |
344 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396148937 rs140247906 |
344 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749812054 CA281660324 |
345 | N>S | No |
ClinGen gnomAD |
|
|
rs773931425 CA8087832 |
347 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8087833 rs761224936 |
347 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs966481318 CA281660334 |
348 | M>I | No |
ClinGen TOPMed |
|
|
rs1436817167 CA396149047 |
348 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1436817167 CA396149051 |
348 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs927296856 CA281660331 |
348 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA396149098 rs1597360577 |
350 | V>G | No |
ClinGen Ensembl |
|
|
rs1453260811 CA396149212 |
353 | C>C | No |
ClinGen TOPMed |
No associated diseases with Q9ULP0
1 regional properties for Q9ULP0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fatty acid hydroxylase | 167 - 292 | IPR006694 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell projection membrane | The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cardiac muscle cell proliferation | The expansion of a cardiac muscle cell population by cell division. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cell migration involved in heart development | The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. |
| embryonic heart tube development | The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| negative regulation of platelet-derived growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the platelet-derived growth factor receptor signaling pathway. |
| negative regulation of smooth muscle cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle cell migration. |
| negative regulation of smooth muscle cell proliferation | Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of endocytic recycling | Any process that modulates the frequency, rate or extent of endocytic recycling. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| vesicle docking | The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPECWDGEHD | IETPYGLLHV | VIRGSPKGNR | PAILTYHDVG | LNHKLCFNTF | FNFEDMQEIT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KHFVVCHVDA | PGQQVGASQF | PQGYQFPSME | QLAAMLPSVV | QHFGFKYVIG | IGVGAGAYVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AKFALIFPDL | VEGLVLVNID | PNGKGWIDWA | ATKLSGLTST | LPDTVLSHLF | SQEELVNNTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVQSYRQQIG | NVVNQANLQL | FWNMYNSRRD | LDINRPGTVP | NAKTLRCPVM | LVVGDNAPAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DGVVECNSKL | DPTTTTFLKM | ADSGGLPQVT | QPGKLTEAFK | YFLQGMGYIA | YLKDRRLSGG |
| 310 | 320 | 330 | 340 | 350 | |
| AVPSASMTRL | ARSRTASLTS | ASSVDGSRPQ | ACTHSESSEG | LGQVNHTMEV | SC |