P04198
SS
Gene name |
MYCN (BHLHE37, NMYC) |
Protein name |
N-myc proto-oncogene protein |
Names |
Class E basic helix-loop-helix protein 37, bHLHe37 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4613 |
EC number |
|
Protein Class |
|
Descriptions
N-Myc promotes cell proliferation through a direct transactivation of neuronal leucine-rich repeat protein-1 (NLRR1) gene in neuroblastoma. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').
Autoinhibitory domains (AIDs)
Target domain |
128-192 (DNA-binding domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
3 structures for P04198
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5G1X | X-ray | 172 A | B | 28-89 | PDB |
| 7ZTL | X-ray | 190 A | B | 28-89 | PDB |
| AF-P04198-F1 | Predicted | AlphaFoldDB |
455 variants for P04198
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1553370260 RCV000497372 CA645372524 |
25 | Q>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000434477 rs1057519919 CA16602894 RCV000421370 COSM35624 RCV000428589 RCV000441008 RCV000423772 |
44 | P>L | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Variant assessed as Somatic; MODERATE impact. pancreas Medulloblastoma autonomic_ganglia Glioblastoma endometrium central_nervous_system Pancreatic adenocarcinoma Neuroblastoma [ClinVar, Ensembl, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001255745 rs780080562 RCV001008758 |
47 | E>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000014910 rs113994115 CA341314 |
73 | E>* | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014909 CA257015 rs121913667 |
77 | W>* | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624649 rs886041801 RCV000369120 CA10602809 |
148 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001252327 rs1267366929 |
165 | A>D | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000014911 RCV003228894 rs1558534266 |
210 | A>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1538207 RCV002524832 RCV000728665 rs745414155 RCV000444384 |
220 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1662837763 RCV001266984 |
267 | D>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572220856 RCV001029807 |
282 | V>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA645372361 rs1553370918 RCV000497984 |
301 | V>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA345931974 RCV000497890 rs759103701 |
322 | R>* | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000498569 rs367962377 CA345932087 |
338 | Y>* | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1662848905 RCV001267354 |
347 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553370963 RCV000498441 CA645372525 |
355 | S>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000857319 rs1572221400 |
369 | S>missing | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754137452 RCV000657652 RCV000857320 |
373 | R>* | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs121913666 RCV000014912 CA257017 |
382 | R>H | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1662856733 RCV001252328 |
391 | R>S | Feingold syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002290672 RCV001266133 rs104893647 |
393 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_031952 rs104893646 RCV000014906 CA257009 RCV001849263 RCV001564807 |
393 | R>H | Feingold syndrome type 1 Feingold syndrome FGLDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA257011 VAR_031953 rs104893647 RCV000014907 |
393 | R>S | Feingold syndrome type 1 FGLDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA257013 VAR_031954 RCV000014908 rs104893648 |
394 | R>H | Feingold syndrome type 1 FGLDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA345932452 rs104893648 RCV000497480 |
394 | R>L | Feingold syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000626880 RCV001662671 CA345932549 rs1553371013 |
409 | P>L | Isolated agenesis of gallbladder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| COSM717285 | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370558211 | 2 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370558211 | 2 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs373683425 | 3 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780064642 | 3 | S>R | No |
ExAC gnomAD |
|
|
CA1538099 rs373683425 RCV000591265 |
3 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs756249997 | 4 | C>F | No |
ExAC gnomAD |
|
| rs748156396 | 4 | C>G | No |
ExAC gnomAD |
|
| rs756249997 | 4 | C>Y | No |
ExAC gnomAD |
|
| rs868623724 | 5 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1311546727 | 6 | T>M | No | gnomAD | |
| rs1395093741 | 7 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs371517719 | 8 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1260613770 | 9 | M>V | No | gnomAD | |
| rs1572216812 | 10 | P>R | No | Ensembl | |
| rs577079213 | 10 | P>T | No |
1000Genomes ExAC gnomAD |
|
| rs772399455 | 11 | G>A | No |
ExAC gnomAD |
|
| rs772399455 | 11 | G>D | No |
ExAC gnomAD |
|
| rs776147637 | 12 | M>T | No |
ExAC gnomAD |
|
| COSM4915370 | 12 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs886765376 | 14 | C>Y | No |
TOPMed gnomAD |
|
| rs1429263576 | 15 | K>R | No | gnomAD | |
| rs1168585029 | 17 | P>A | No | TOPMed | |
| rs760258394 | 17 | P>R | No |
ExAC gnomAD |
|
| rs763755133 | 19 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM1305750 | 20 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776400798 | 23 | S>W | No |
ExAC gnomAD |
|
|
rs886041290 CA10602808 RCV000403531 |
25 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1275764497 | 31 | D>G | No | gnomAD | |
| COSM3568328 | 31 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1033952007 | 32 | E>D | No |
TOPMed gnomAD |
|
| rs1572216932 | 32 | E>G | No | Ensembl | |
| rs1218586780 | 32 | E>K | No | gnomAD | |
| rs1558533634 | 33 | D>A | No | Ensembl | |
| rs1481041288 | 33 | D>N | No | TOPMed | |
| TCGA novel | 34 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766296336 | 35 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1572216960 | 36 | Y>S | No | Ensembl | |
| rs1255684004 | 37 | F>I | No | gnomAD | |
| rs374745691 | 37 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs958489598 | 38 | G>D | No | TOPMed | |
| rs777870812 | 38 | G>R | No |
ExAC gnomAD |
|
| rs1261161870 | 39 | G>S | No | gnomAD | |
| rs757371872 | 41 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1191742873 | 41 | D>N | No | gnomAD | |
|
rs1431289688 COSM3568329 |
42 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1431289688 | 42 | S>W | No |
TOPMed gnomAD |
|
| TCGA novel | 43 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5886170 | 44 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1295910814 | 45 | P>A | No | gnomAD | |
|
COSM4085916 rs747568578 |
45 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM1400341 | 45 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4395363 | 46 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs780080562 COSM4613541 |
47 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM4613542 | 47 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1387579404 | 51 | K>N | No | TOPMed | |
| COSM2157145 | 58 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1572217114 | 58 | T>P | No | Ensembl | |
| rs751463329 | 64 | S>C | No |
ExAC gnomAD |
|
| rs754869267 | 64 | S>N | No |
ExAC gnomAD |
|
| rs1379299556 | 65 | R>C | No | gnomAD | |
| rs1166304025 | 66 | G>V | No | gnomAD | |
| rs767463815 | 68 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs767463815 | 68 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1052552775 | 69 | E>K | No | gnomAD | |
| rs1558533792 | 71 | S>G | No | Ensembl | |
| rs757360369 | 74 | P>H | No |
ExAC TOPMed gnomAD |
|
|
rs757360369 COSM24294 |
74 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1378167054 | 74 | P>S | No | gnomAD | |
| rs779000620 | 75 | P>R | No |
ExAC gnomAD |
|
| rs1353283525 | 75 | P>S | No | gnomAD | |
| rs750717149 | 76 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs750717149 | 76 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1572217254 | 76 | S>R | No | Ensembl | |
| rs750717149 | 76 | S>T | No |
ExAC TOPMed gnomAD |
|
|
RCV000681830 rs1558533831 |
77 | W>missing | No |
ClinVar dbSNP |
|
| rs1220809230 | 79 | T>R | No | gnomAD | |
| rs747413221 | 81 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs769240539 | 82 | L>V | No |
ExAC gnomAD |
|
| rs747547602 | 85 | N>K | No |
ExAC TOPMed gnomAD |
|
|
rs1572217314 RCV000795966 |
86 | E>Q | No |
ClinVar Ensembl dbSNP |
|
| rs1164917029 | 87 | L>V | No | gnomAD | |
| rs1558533865 | 89 | G>V | No | Ensembl | |
| rs1406296962 | 90 | S>I | No | TOPMed | |
| rs1572217352 | 91 | P>L | No | Ensembl | |
| rs151113760 | 93 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs774081987 | 95 | D>N | No |
ExAC gnomAD |
|
| rs759339159 | 98 | G>R | No |
ExAC gnomAD |
|
| rs759339159 | 98 | G>S | No |
ExAC gnomAD |
|
| rs767373881 | 99 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1377117331 | 101 | G>* | No |
TOPMed gnomAD |
|
| rs752749374 | 101 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1377117331 | 101 | G>R | No |
TOPMed gnomAD |
|
| rs1258697242 | 102 | L>M | No | gnomAD | |
| rs761787091 | 104 | G>D | No |
ExAC gnomAD |
|
| rs761787091 | 104 | G>V | No |
ExAC gnomAD |
|
| rs750579922 | 106 | T>P | No | ExAC | |
| rs1180258081 | 106 | T>S | No | TOPMed | |
| rs758657333 | 107 | P>S | No |
ExAC gnomAD |
|
| rs1442735666 | 108 | N>H | No | gnomAD | |
| rs780448923 | 108 | N>S | No |
ExAC gnomAD |
|
| TCGA novel | 108 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1235382270 | 109 | P>A | No | gnomAD | |
| rs921199233 | 110 | V>F | No | TOPMed | |
| rs755400695 | 112 | L>V | No |
ExAC gnomAD |
|
| rs769152073 | 119 | G>D | No |
ExAC gnomAD |
|
| rs777292565 | 120 | F>C | No |
ExAC gnomAD |
|
| rs748818541 | 120 | F>L | No |
ExAC gnomAD |
|
| rs1357629501 | 121 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3798087 rs773995882 |
124 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 125 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs540489428 | 125 | K>R | No | 1000Genomes | |
| rs1558533990 | 126 | L>P | No | Ensembl | |
| rs759320806 | 126 | L>V | No |
ExAC gnomAD |
|
| rs1486614688 | 127 | E>Q | No | gnomAD | |
| rs1216742855 | 128 | R>C | No |
TOPMed gnomAD |
|
| rs1216742855 | 128 | R>G | No |
TOPMed gnomAD |
|
| rs771914958 | 128 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1216742855 | 128 | R>S | No |
TOPMed gnomAD |
|
| rs1345499308 | 129 | A>P | No | gnomAD | |
| rs1345499308 | 129 | A>T | No | gnomAD | |
| rs1276177132 | 130 | V>A | No | gnomAD | |
| rs1183620143 | 130 | V>M | No | gnomAD | |
| rs1441494758 | 131 | S>N | No | gnomAD | |
| rs1264733682 | 132 | E>D | No | gnomAD | |
| rs775268500 | 132 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs750472300 | 136 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1003867645 | 136 | H>Y | No |
TOPMed gnomAD |
|
| rs1423417145 | 137 | G>R | No | gnomAD | |
| rs906249646 | 139 | G>E | No | TOPMed | |
| rs906249646 | 139 | G>V | No | TOPMed | |
| rs1436402823 | 139 | G>W | No | TOPMed | |
| rs1434365878 | 140 | P>S | No | gnomAD | |
| rs1458138679 | 141 | P>S | No | TOPMed | |
| rs1002376834 | 142 | T>I | No | TOPMed | |
| rs1362587558 | 143 | A>V | No | gnomAD | |
| rs1317627800 | 144 | G>S | No | gnomAD | |
| rs1471070670 | 147 | A>V | No | TOPMed | |
| rs1272894812 | 149 | S>F | No |
TOPMed gnomAD |
|
| rs958231449 | 150 | P>Q | No | TOPMed | |
| rs1011138934 | 151 | G>R | No | TOPMed | |
| rs755369959 | 152 | A>T | No |
ExAC gnomAD |
|
| rs1287680956 | 155 | A>T | No | gnomAD | |
| rs1469254183 | 156 | S>R | No | gnomAD | |
| rs767962049 | 157 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1021151846 | 157 | P>S | No | TOPMed | |
| rs1173527624 | 158 | A>V | No | gnomAD | |
| rs1397224785 | 160 | R>G | No | gnomAD | |
| TCGA novel | 163 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 163 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001008891 rs1572217717 |
165 | A>missing | No |
ClinVar dbSNP |
|
| rs1267366929 | 165 | A>G | No | gnomAD | |
| rs1312785959 | 165 | A>T | No | gnomAD | |
| rs1371290338 | 167 | G>E | No | gnomAD | |
| TCGA novel | 169 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1323722357 | 170 | R>C | No | TOPMed | |
| rs1019033224 | 170 | R>P | No | TOPMed | |
|
rs886039427 CA10588312 RCV000255968 |
171 | A>missing | No |
ClinGen ClinVar dbSNP |
|
| rs756590478 | 171 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs756590478 | 171 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs550938636 | 173 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1364992676 | 174 | A>D | No | TOPMed | |
| rs756825638 | 174 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs778525839 | 176 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1318882831 | 176 | P>T | No | TOPMed | |
| rs1303921953 | 177 | A>S | No | gnomAD | |
| rs1412879026 | 178 | E>D | No | TOPMed | |
| rs1232039982 | 178 | E>K | No |
TOPMed gnomAD |
|
| rs771733797 | 180 | A>V | No |
ExAC gnomAD |
|
| rs746805841 | 183 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs768583620 | 184 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1185162841 | 186 | C>Y | No | TOPMed | |
| rs776717109 | 190 | A>S | No |
ExAC gnomAD |
|
| rs776717109 | 190 | A>T | No |
ExAC gnomAD |
|
| rs908428735 | 190 | A>V | No | TOPMed | |
| rs1374212272 | 194 | P>T | No | gnomAD | |
| rs1273075551 | 196 | P>L | No | TOPMed | |
| rs1480706293 | 198 | N>K | No | gnomAD | |
| rs866235073 | 199 | K>R | No | Ensembl | |
| rs1229803179 | 204 | P>L | No | TOPMed | |
| rs1469113412 | 205 | V>A | No | TOPMed | |
| rs753047771 | 205 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs866782081 | 206 | P>T | No | Ensembl | |
| rs1179671510 | 207 | A>G | No |
TOPMed gnomAD |
|
| rs867641349 | 207 | A>T | No | gnomAD | |
| rs1179671510 | 207 | A>V | No |
TOPMed gnomAD |
|
| rs756439436 | 208 | A>S | No |
ExAC gnomAD |
|
| rs1356368956 | 208 | A>V | No | TOPMed | |
| rs1438100504 | 209 | P>Q | No | gnomAD | |
| rs1438100504 | 209 | P>R | No | gnomAD | |
| rs866239394 | 209 | P>T | No | Ensembl | |
| rs1369181101 | 210 | A>S | No | gnomAD | |
| rs868712642 | 212 | A>D | No | Ensembl | |
| rs868712642 | 212 | A>V | No | Ensembl | |
| rs764655512 | 213 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs778436138 | 215 | A>G | No |
ExAC gnomAD |
|
| rs1368581585 | 216 | G>D | No | TOPMed | |
| rs906288244 | 219 | V>F | No | TOPMed | |
| rs745414155 | 220 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs779590223 | 221 | S>L | No |
ExAC gnomAD |
|
| rs1470924514 | 222 | G>E | No | TOPMed | |
| rs1251913339 | 223 | A>E | No | TOPMed | |
| rs1251913339 | 223 | A>V | No | TOPMed | |
| rs1054865907 | 225 | I>T | No |
TOPMed gnomAD |
|
| rs1398865274 | 225 | I>V | No | gnomAD | |
| rs1224424941 | 226 | A>S | No | TOPMed | |
| rs1322761276 | 226 | A>V | No | TOPMed | |
| rs1292040252 | 229 | A>T | No | gnomAD | |
| rs776698783 | 229 | A>V | No |
ExAC gnomAD |
|
| rs1368756316 | 233 | G>A | No | TOPMed | |
| rs1021181552 | 233 | G>R | No | TOPMed | |
| rs1368756316 | 233 | G>V | No | TOPMed | |
| rs1572218082 | 234 | V>G | No | Ensembl | |
| rs1304950269 | 235 | A>P | No | TOPMed | |
| rs1257124191 | 236 | P>A | No |
TOPMed gnomAD |
|
| rs759545096 | 236 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs759545096 | 236 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1257124191 | 236 | P>S | No |
TOPMed gnomAD |
|
|
RCV000597519 CA1538217 rs767711936 |
237 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1412185126 | 237 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs775640153 | 238 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1270397686 | 239 | P>T | No | TOPMed | |
| rs1397907417 | 240 | G>S | No |
TOPMed gnomAD |
|
| rs764416757 | 241 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs754314632 | 241 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs764416757 | 241 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs754314632 | 241 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1403883522 | 242 | R>H | No | gnomAD | |
| COSM4420188 | 242 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 243 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765757312 | 244 | T>S | No |
ExAC TOPMed |
|
| rs1311781418 | 247 | G>S | No | gnomAD | |
| rs1228008742 | 249 | H>Y | No | TOPMed | |
| rs757855020 | 250 | K>M | No |
ExAC gnomAD |
|
| rs754768625 | 253 | S>G | No |
ExAC gnomAD |
|
| rs1208947374 | 256 | G>E | No | gnomAD | |
| rs1484360683 | 256 | G>R | No | gnomAD | |
| rs769793821 | 257 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1256922361 | 257 | E>K | No | gnomAD | |
| rs1195809756 | 259 | T>A | No | gnomAD | |
| rs1421384102 | 259 | T>I | No |
TOPMed gnomAD |
|
| rs1421384102 | 259 | T>N | No |
TOPMed gnomAD |
|
| rs777857794 | 260 | L>M | No |
ExAC TOPMed |
|
|
rs1558534492 RCV000760906 |
263 | S>* | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 264 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1303025116 | 264 | D>G | No | gnomAD | |
| rs1558535862 | 265 | D>E | No | Ensembl | |
| rs751108330 | 265 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs765859316 | 265 | D>N | No |
ExAC gnomAD |
|
| rs1487240670 | 266 | E>D | No | TOPMed | |
| TCGA novel | 267 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376496392 | 270 | E>K | No | gnomAD | |
| rs1057521388 | 271 | E>D | No |
TOPMed gnomAD |
|
| rs754536347 | 272 | D>E | No |
ExAC TOPMed gnomAD |
|
|
CA10603869 rs886042150 RCV000395178 |
273 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1238492356 | 275 | E>K | No | gnomAD | |
| rs1441199863 | 275 | E>V | No | gnomAD | |
| rs201115523 | 278 | D>N | No |
1000Genomes ExAC gnomAD |
|
|
CA243352 rs794727503 RCV000177227 |
279 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs772161530 | 284 | K>E | No |
ExAC gnomAD |
|
| rs747134309 | 285 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs747134309 COSM215839 |
285 | R>Q | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs779959007 | 285 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs776847158 COSM1400350 |
286 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA |
| rs762164859 | 286 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1314875671 | 288 | S>F | No |
TOPMed gnomAD |
|
| rs562066563 | 289 | S>A | No |
1000Genomes ExAC gnomAD |
|
| rs1258488842 | 290 | N>D | No |
TOPMed gnomAD |
|
| rs1325003739 | 290 | N>T | No |
TOPMed gnomAD |
|
| rs1202048593 | 292 | K>N | No | gnomAD | |
| rs1253768081 | 293 | A>S | No | TOPMed | |
| rs1197202335 | 293 | A>V | No | TOPMed | |
| TCGA novel | 295 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1572220951 | 295 | T>P | No | Ensembl | |
| TCGA novel | 299 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1414932356 | 300 | T>I | No | gnomAD | |
| rs1183109894 | 300 | T>P | No | gnomAD | |
| rs766929243 | 301 | V>M | No |
ExAC gnomAD |
|
|
rs144939456 COSM1400351 |
302 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs144939456 | 302 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs140581169 | 302 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1196283345 | 303 | P>R | No | TOPMed | |
| rs752454441 | 304 | K>R | No |
ExAC gnomAD |
|
| rs755948961 | 305 | N>K | No |
ExAC gnomAD |
|
| rs753699979 | 306 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs753699979 | 306 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs778923558 | 307 | A>V | No |
ExAC gnomAD |
|
| rs1246081024 | 308 | L>R | No | TOPMed | |
| rs1572221045 | 309 | G>V | No | Ensembl | |
| rs1572221054 | 311 | G>A | No | Ensembl | |
|
CA1538282 RCV000436958 rs200236475 |
312 | R>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs200236475 | 312 | R>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs866000211 | 313 | A>S | No |
TOPMed gnomAD |
|
| rs866000211 | 313 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 316 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs559259288 | 316 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1485042147 | 317 | E>D | No | gnomAD | |
| rs771271810 | 317 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1187954063 | 320 | L>F | No |
TOPMed gnomAD |
|
| rs774985441 | 321 | K>I | No |
ExAC gnomAD |
|
| rs1264514270 | 321 | K>Q | No | gnomAD | |
|
COSM1008224 rs774985441 |
321 | K>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs759103701 | 322 | R>G | No |
ExAC gnomAD |
|
| rs930200887 | 323 | C>R | No | Ensembl | |
| rs1415282459 | 324 | L>F | No | gnomAD | |
| TCGA novel | 328 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763830786 | 334 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM4085919 | 335 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3568343 | 335 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3568344 | 336 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 336 | S>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269408510 | 338 | Y>C | No | gnomAD | |
| rs1269408510 | 338 | Y>F | No | gnomAD | |
| rs1269408510 | 338 | Y>S | No | gnomAD | |
| rs372079635 | 339 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs372079635 | 339 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1346600319 | 340 | E>D | No | gnomAD | |
| rs144648016 | 341 | S>N | No |
ESP ExAC gnomAD |
|
| rs1210985168 | 341 | S>R | No | TOPMed | |
| rs748246058 | 342 | E>D | No |
ExAC gnomAD |
|
| rs1572221237 | 342 | E>G | No | Ensembl | |
| rs1287461885 | 342 | E>Q | No | gnomAD | |
| rs756266477 | 344 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs772094674 | 345 | P>S | No | TOPMed | |
| COSM1400352 | 347 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1727920 rs1558536206 |
347 | Q>R | liver [Cosmic] | No |
cosmic curated Ensembl |
| TCGA novel | 348 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1241708907 | 350 | I>T | No | TOPMed | |
| rs1264173627 | 350 | I>V | No | TOPMed | |
| rs868585198 | 352 | S>I | No | Ensembl | |
| rs749608913 | 352 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs950219349 | 354 | A>T | No |
TOPMed gnomAD |
|
| rs185639773 | 354 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772736778 | 356 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs903220434 | 356 | P>S | No | Ensembl | |
|
COSM181729 rs1324334894 |
357 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed |
| rs1398902296 | 357 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM75503 rs775092426 |
358 | P>L | ovary Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs768128271 | 359 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs776413368 | 359 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs776413368 | 359 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs761502958 | 363 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs143438192 | 364 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs766312745 | 364 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs766312745 | 364 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs143438192 | 364 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000594013 rs140276895 CA1538318 RCV001722543 |
365 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs150742977 | 365 | P>L | No |
ESP TOPMed gnomAD |
|
| rs150742977 | 365 | P>Q | No |
ESP TOPMed gnomAD |
|
|
rs140276895 COSM1400354 |
365 | P>T | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1215953758 | 366 | K>R | No | gnomAD | |
|
RCV001092531 rs1662852731 |
367 | A>missing | No |
ClinVar dbSNP |
|
| rs1251450674 | 367 | A>G | No |
TOPMed gnomAD |
|
| rs1454021215 | 369 | S>T | No |
TOPMed gnomAD |
|
| rs777840849 | 372 | P>A | No |
ExAC gnomAD |
|
| TCGA novel | 372 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM166938 | 373 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs886039428 CA10588313 RCV000255041 |
374 | N>* | No |
ClinGen ClinVar dbSNP |
|
| rs1157984016 | 375 | S>F | No | gnomAD | |
| rs1391381257 | 376 | D>E | No | gnomAD | |
| rs1558536330 | 377 | S>L | No | Ensembl | |
|
rs1572221449 RCV001008556 |
378 | E>missing | No |
ClinVar dbSNP |
|
| rs891804141 | 380 | S>N | No |
TOPMed gnomAD |
|
|
COSM3743933 rs746256291 |
382 | R>C | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs998174759 | 383 | R>H | No |
TOPMed gnomAD |
|
| TCGA novel | 385 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572221505 RCV001008259 |
386 | H>missing | No |
ClinVar dbSNP |
|
|
rs1284212565 COSM1008225 |
386 | H>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 387 | N>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA658795680 RCV000599128 rs1553370992 |
390 | E>missing | No |
ClinGen ClinVar dbSNP |
|
| TCGA novel | 390 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558536389 | 394 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs746515680 | 395 | N>S | No |
ExAC gnomAD |
|
| rs1199581745 | 397 | L>I | No | gnomAD | |
|
CA345932472 RCV000494172 rs1131691641 |
397 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM350392 | 398 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5883268 | 398 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000414637 COSM3895057 CA16042420 rs1057517770 |
398 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1057520637 CA16604002 RCV000423291 |
399 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| COSM441308 | 401 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM48583 | 402 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000518893 CA658657010 rs1553371008 |
403 | T>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1572221604 | 403 | T>A | No | Ensembl | |
| rs777508469 | 403 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs777508469 | 403 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs200482512 | 406 | D>H | No | Ensembl | |
| rs1476765674 | 410 | E>G | No | TOPMed | |
|
TCGA novel rs772930728 |
412 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs762737885 | 414 | N>K | No |
ExAC gnomAD |
|
| rs766297977 | 415 | E>Q | No |
ExAC gnomAD |
|
| rs751553239 | 417 | A>S | No |
ExAC gnomAD |
|
| rs751553239 | 417 | A>T | No |
ExAC gnomAD |
|
| rs760647298 | 418 | A>P | No |
ExAC gnomAD |
|
| rs760647298 | 418 | A>S | No |
ExAC gnomAD |
|
| rs760647298 | 418 | A>T | No |
ExAC gnomAD |
|
| rs757452061 | 421 | V>I | No |
ExAC gnomAD |
|
| rs779292035 | 424 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs750750877 | 426 | A>T | No |
ExAC gnomAD |
|
| COSM3568346 | 429 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000412724 RCV001527347 rs1057518397 CA16042353 |
430 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs780694264 | 430 | V>I | No |
ExAC gnomAD |
|
| rs1337733039 | 432 | S>C | No | gnomAD | |
| TCGA novel | 432 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 433 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 434 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4828765 | 435 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs984467548 | 436 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs747637579 | 437 | E>D | No |
ExAC gnomAD |
|
| COSM5609481 | 443 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs534637762 | 443 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| COSM3300603 | 445 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs554483463 | 446 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA16603806 rs1057521724 RCV000439770 |
451 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM6154608 | 451 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs991669693 | 451 | Q>H | No |
TOPMed gnomAD |
|
| rs1359470487 | 452 | Q>E | No | TOPMed | |
|
RCV000484900 CA16617253 rs1064794600 |
453 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1333106886 | 453 | Q>L | No | TOPMed | |
| rs774239290 | 456 | K>N | No |
ExAC gnomAD |
|
| rs917439428 | 458 | I>M | No | Ensembl | |
| rs759475462 | 458 | I>T | No |
ExAC gnomAD |
|
| rs1355391242 | 459 | E>Q | No | gnomAD | |
| rs1298220057 | 460 | H>Y | No | gnomAD | |
| rs761805254 | 461 | A>P | No |
ExAC gnomAD |
|
| rs761805254 | 461 | A>T | No |
ExAC gnomAD |
|
| rs144531796 | 462 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs144531796 | 462 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751904867 | 464 | C>W | No |
ExAC TOPMed gnomAD |
2 associated diseases with P04198
[MIM: 164280]: Feingold syndrome 1 (FGLDS1)
A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P04198
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P04198 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of miRNA transcription | Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSCSTSTMP | GMICKNPDLE | FDSLQPCFYP | DEDDFYFGGP | DSTPPGEDIW | KKFELLPTPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSPSRGFAEH | SSEPPSWVTE | MLLENELWGS | PAEEDAFGLG | GLGGLTPNPV | ILQDCMWSGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAREKLERAV | SEKLQHGRGP | PTAGSTAQSP | GAGAASPAGR | GHGGAAGAGR | AGAALPAELA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPAAECVDPA | VVFPFPVNKR | EPAPVPAAPA | SAPAAGPAVA | SGAGIAAPAG | APGVAPPRPG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRQTSGGDHK | ALSTSGEDTL | SDSDDEDDEE | EDEEEEIDVV | TVEKRRSSSN | TKAVTTFTIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRPKNAALGP | GRAQSSELIL | KRCLPIHQQH | NYAAPSPYVE | SEDAPPQKKI | KSEASPRPLK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVIPPKAKSL | SPRNSDSEDS | ERRRNHNILE | RQRRNDLRSS | FLTLRDHVPE | LVKNEKAAKV |
| 430 | 440 | 450 | 460 | ||
| VILKKATEYV | HSLQAEEHQL | LLEKEKLQAR | QQQLLKKIEH | ARTC |