P18848
PR
Gene name |
ATF4 |
Protein name |
Cyclic AMP-dependent transcription factor ATF-4 |
Names |
cAMP-dependent transcription factor ATF-4, Activating transcription factor 4, Cyclic AMP-responsive element-binding protein 2, CREB-2, cAMP-responsive element-binding protein 2, Tax-responsive enhancer element-binding protein 67, TaxREB67 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:468 |
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
2 structures for P18848
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1CI6 | X-ray | 260 A | A | 280-341 | PDB |
| AF-P18848-F1 | Predicted | AlphaFoldDB |
455 variants for P18848
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10242885 rs146354334 |
2 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288987416 CA411622881 |
2 | T>S | No |
ClinGen TOPMed |
|
|
CA10242886 RCV000899879 rs149908720 |
3 | E>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA10242887 rs149908720 |
3 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272643527 CA411622894 |
4 | M>R | No |
ClinGen Ensembl |
|
|
CA10242888 rs764339006 |
6 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10242889 rs754403045 |
8 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242890 rs757658895 |
8 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10242891 rs779630800 |
9 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751006399 CA10242892 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754480311 CA10242893 CA411622948 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527712972 CA324436812 |
12 | L>W | No |
ClinGen 1000Genomes |
|
|
CA10242894 rs780881509 |
13 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10242896 rs769662388 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs546014190 CA324436830 |
17 | M>I | No |
ClinGen gnomAD |
|
|
CA324436835 rs34854854 |
18 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs34854854 CA10242897 |
18 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411622986 rs749260078 |
19 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421332070 CA411622987 |
19 | P>H | No |
ClinGen gnomAD |
|
|
CA10242899 rs749260078 |
19 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242898 rs749260078 |
19 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411622996 COSM445015 rs1427580664 |
20 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1167819293 CA411622999 |
21 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411623010 rs4894 |
22 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10242900 rs4894 VAR_028253 |
22 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411623026 rs1435982044 |
25 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10242904 rs760943141 |
25 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242905 rs764544798 |
26 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1226726106 CA411623035 |
26 | G>V | No |
ClinGen gnomAD |
|
|
rs1274549123 CA411623036 |
27 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754096991 CA10242906 |
27 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1450571074 CA411623053 |
29 | E>G | No |
ClinGen gnomAD |
|
|
rs1193366464 CA411623060 |
30 | S>N | No |
ClinGen gnomAD |
|
|
CA10242909 rs372523612 |
32 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370467448 CA10242910 |
33 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10242911 rs780640405 |
35 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10242912 rs752369664 |
36 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242913 rs755663587 |
37 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA411623116 rs1384016955 |
39 | E>A | No |
ClinGen gnomAD |
|
|
rs1248754297 CA411623126 |
40 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1248754297 CA411623125 |
40 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10242916 rs749101924 COSM1161427 |
42 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs925614655 CA324436908 |
43 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1354963846 CA411623141 |
43 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10242918 rs779038575 |
44 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149326054 CA10242919 |
45 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149326054 CA411623157 |
45 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149326054 CA10242920 |
45 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111719524 CA10242921 |
46 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10242922 rs747272986 |
47 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747272986 CA324436933 |
47 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324436929 rs948230107 |
47 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776908104 CA10242924 |
48 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10242925 rs762144715 |
49 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs765613696 CA10242926 |
51 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA411623188 rs1320178304 |
51 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1332752491 CA411623199 |
52 | D>G | No |
ClinGen gnomAD |
|
|
rs1601761131 CA411623195 |
52 | D>N | No |
ClinGen Ensembl |
|
|
CA411623204 rs1239115519 |
53 | K>E | No |
ClinGen gnomAD |
|
|
CA411623208 rs1289630513 |
53 | K>R | No |
ClinGen gnomAD |
|
|
CA411623206 rs1289630513 |
53 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10242929 rs148038848 |
54 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1283519293 CA411623215 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs994266051 CA324436956 |
56 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767028222 CA10242930 |
58 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623239 rs767028222 |
58 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242931 rs141727778 |
59 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1438372076 CA411623245 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1183930860 CA411623263 |
62 | L>V | No |
ClinGen gnomAD |
|
|
rs757039754 CA411623281 |
65 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10242933 rs554269913 |
65 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10242935 rs757039754 |
65 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs554269913 CA10242934 |
65 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778813682 CA10242936 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs566425803 CA411623290 |
67 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411623296 rs1397409615 |
68 | V>I | No |
ClinGen TOPMed |
|
|
CA10242939 rs370822144 |
69 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1401972732 CA411623303 |
69 | S>R | No |
ClinGen gnomAD |
|
|
rs747126359 CA411623310 |
70 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10242941 rs768767576 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10242940 rs747126359 |
70 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411623318 rs1175960186 |
71 | S>F | No |
ClinGen TOPMed |
|
|
CA411623322 rs1408752776 |
72 | N>T | No |
ClinGen gnomAD |
|
|
CA411623338 rs1313631093 |
74 | S>N | No |
ClinGen gnomAD |
|
|
CA411623347 rs1230767801 |
75 | K>R | No |
ClinGen gnomAD |
|
|
rs748372305 CA10242943 |
76 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1323569329 CA411623374 |
77 | D>E | No |
ClinGen gnomAD |
|
|
rs756172316 CA10242982 |
77 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242981 rs756172316 |
77 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623369 rs756172316 |
77 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623377 rs1242791637 |
78 | A>S | No |
ClinGen gnomAD |
|
|
rs141575018 CA10242983 |
79 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465556119 CA411623387 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA10242984 rs146185967 |
80 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324437086 rs146185967 |
80 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411623409 rs1464729882 |
83 | D>V | No |
ClinGen gnomAD |
|
|
rs746376611 CA10242986 |
84 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10242987 rs772567775 |
84 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761467344 CA10242989 |
85 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs775860856 CA10242988 |
85 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA324437155 rs916847510 |
87 | E>D | No |
ClinGen TOPMed |
|
|
rs1407582576 CA411623437 |
87 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411623456 rs1318132577 |
89 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1458442471 CA411623452 |
89 | M>T | No |
ClinGen gnomAD |
|
|
CA324437164 rs369838694 |
92 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10242992 CA10242993 rs575135566 |
94 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766100228 CA10242994 |
96 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA411623514 rs1217344139 |
97 | D>E | No |
ClinGen TOPMed |
|
|
CA411623508 rs1376940952 |
97 | D>H | No |
ClinGen gnomAD |
|
|
rs759246444 CA10242996 |
99 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411623524 rs759246444 |
99 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411623530 rs1230387803 CA411623531 |
100 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1266483064 CA411623534 |
101 | G>C | No |
ClinGen gnomAD |
|
|
rs767548425 CA10242997 COSM224099 |
101 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1266483064 CA411623533 |
101 | G>R | No |
ClinGen gnomAD |
|
|
CA411623542 rs542420026 |
102 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10242998 rs369760669 |
102 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1034309 rs754079438 CA10243001 |
103 | D>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA324437202 rs11556099 |
104 | D>N | No |
ClinGen gnomAD |
|
|
CA411623551 rs11556099 |
104 | D>Y | No |
ClinGen gnomAD |
|
|
CA10243004 rs148568771 |
105 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888535148 CA324437216 |
106 | E>D | No |
ClinGen TOPMed |
|
|
rs1156490821 CA411623573 |
107 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411623572 rs1156490821 |
107 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431576265 CA411623585 |
109 | P>S | No |
ClinGen TOPMed |
|
|
rs142911753 CA10243005 |
110 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1005988092 CA411623603 |
111 | D>E | No |
ClinGen TOPMed |
|
|
rs775068459 CA10243007 |
112 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243008 rs747488604 |
113 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1569026006 CA411623618 |
114 | T>I | No |
ClinGen Ensembl |
|
|
CA10243010 rs772801965 |
115 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411804911 CA411623628 |
116 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs867462896 CA324437259 |
117 | D>N | No |
ClinGen Ensembl |
|
|
CA411623641 rs1286672659 |
118 | D>A | No |
ClinGen gnomAD |
|
|
CA411623638 rs1267632993 |
118 | D>N | No |
ClinGen TOPMed |
|
|
rs1029503588 CA324437263 |
119 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10243013 rs773862346 |
120 | C>W | No |
ClinGen ExAC |
|
| TCGA novel | 120 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10243012 rs770681729 |
120 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759424161 CA10243014 |
121 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA324437274 rs868548256 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA411623665 rs868548256 |
122 | L>V | No |
ClinGen gnomAD |
|
|
rs1209962043 CA411623681 |
124 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1305912851 CA411623678 |
124 | A>S | No |
ClinGen TOPMed |
|
|
rs1209962043 CA411623682 |
124 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1407274903 CA411623687 |
125 | P>L | No |
ClinGen TOPMed |
|
|
rs760553685 CA10243017 |
125 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623688 rs181790280 |
126 | L>I | No |
ClinGen 1000Genomes ExAC |
|
| rs1278387390 | 126 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181790280 CA10243020 |
126 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA324437299 rs529375059 |
127 | V>D | No |
ClinGen Ensembl |
|
|
CA411623699 rs1569026094 |
128 | Q>E | No |
ClinGen Ensembl |
|
|
rs1192601531 CA411623701 |
128 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324437306 rs373772666 |
129 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1172077094 CA411623716 |
130 | T>I | No |
ClinGen TOPMed |
|
|
rs1172077094 CA411623717 |
130 | T>S | No |
ClinGen TOPMed |
|
|
rs1601761753 CA411623735 |
133 | Q>E | No |
ClinGen Ensembl |
|
|
rs146469032 CA10243025 |
133 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10243028 rs147877175 |
134 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147877175 CA10243030 |
134 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10243029 rs147877175 |
134 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411623741 rs747543814 |
134 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243027 rs747543814 |
134 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243033 rs140428747 |
135 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000965501 CA10243032 rs140428747 |
135 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10243034 rs140428747 |
135 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411623746 rs760612945 |
136 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298952277 CA411623752 |
136 | Q>H | No |
ClinGen gnomAD |
|
|
rs760612945 CA10243036 |
136 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770192882 TCGA novel |
136 | Q>P | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770192882 | 136 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10243038 rs150385569 |
137 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390231181 CA411623756 |
137 | T>M | No |
ClinGen TOPMed |
|
|
CA10243037 RCV000966684 rs150385569 |
137 | T>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10243039 rs762005484 |
139 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10243041 rs750690606 |
140 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765201376 CA10243040 |
140 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10243042 rs763038389 |
141 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623790 rs1391925016 |
143 | H>R | No |
ClinGen gnomAD |
|
|
CA411623802 rs1447529322 |
145 | P>S | No |
ClinGen gnomAD |
|
|
CA10243045 rs377487629 |
147 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750757685 CA324437383 |
149 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 150 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753112995 CA10243047 |
150 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs566582294 CA10243048 |
151 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411623845 rs1321587288 |
152 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs544103363 CA324437399 COSM159241 |
152 | D>H | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs544103363 CA10243050 |
152 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10243049 rs544103363 |
152 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411623850 rs1252380301 |
153 | Q>K | No |
ClinGen TOPMed |
|
|
CA10243051 rs771555732 |
155 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243053 rs779679328 |
156 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779679328 CA10243052 |
156 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243055 rs149522605 |
157 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411623885 rs1601761908 |
158 | T>I | No |
ClinGen Ensembl |
|
|
CA10243057 rs761617273 |
159 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA10243058 rs202175644 |
159 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs773109981 CA10243059 |
160 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs766764304 CA10243062 |
161 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs766764304 CA10243061 |
161 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10243063 rs552162021 |
161 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552162021 CA411623899 |
161 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10243066 rs570395027 |
162 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753266567 CA10243065 |
162 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778487966 CA10243067 |
163 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749969874 CA10243068 |
163 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243070 rs757892971 |
164 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411623913 rs1397483683 |
164 | P>R | No |
ClinGen TOPMed |
|
|
rs757892971 CA10243069 |
164 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757892971 CA411623911 |
164 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243074 rs748131287 |
167 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201312683 CA10243077 |
169 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411623939 rs371009074 |
169 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10243076 rs371009074 |
169 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256747990 CA411623946 |
170 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144769713 CA10243080 |
171 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1032859544 CA324437528 |
172 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA411623955 rs1032859544 |
172 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1474930297 CA411623953 |
172 | S>P | No |
ClinGen gnomAD |
|
|
CA10243082 rs138640471 |
174 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424679296 CA411623967 |
174 | P>L | No |
ClinGen TOPMed |
|
|
CA411623963 rs138640471 |
174 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022687030 CA324437538 |
175 | D>E | No |
ClinGen TOPMed |
|
|
rs1012671336 CA324437534 |
175 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA411623969 rs1012671336 |
175 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs971085725 CA324437541 |
176 | H>N | No |
ClinGen TOPMed |
|
|
CA411623985 rs1158398175 |
177 | S>C | No |
ClinGen gnomAD |
|
|
CA411623986 rs1158398175 |
177 | S>F | No |
ClinGen gnomAD |
|
|
CA411623992 rs1416615475 |
178 | F>C | No |
ClinGen gnomAD |
|
|
rs981100683 CA324437547 |
179 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 179 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411624005 rs1222465369 |
180 | L>S | No |
ClinGen TOPMed |
|
|
rs1199615558 CA411624003 |
180 | L>V | No |
ClinGen gnomAD |
|
|
rs536072398 CA411624010 |
181 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536072398 CA10243084 |
181 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411624018 rs1289800800 |
182 | L>P | No |
ClinGen gnomAD |
|
|
rs201284334 CA10243086 |
182 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243087 rs765835344 |
184 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10243088 rs751236282 |
184 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754568653 CA10243089 |
186 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781046850 CA10243090 |
187 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243092 rs368914495 |
188 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747948440 CA10243091 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10243094 rs141643322 |
189 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411624061 rs1471703440 |
189 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs141643322 CA411624058 |
189 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324437586 rs951648088 |
191 | G>E | No |
ClinGen TOPMed |
|
|
rs1181398073 CA411624070 |
191 | G>R | No |
ClinGen gnomAD |
|
|
CA411624075 rs1423978849 |
192 | D>N | No |
ClinGen TOPMed |
|
|
rs1184116702 CA411624085 |
193 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10243096 rs146204295 |
193 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374484492 CA324437595 |
195 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs1375416790 CA411624105 |
196 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10243098 rs772487305 |
196 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775770534 CA10243099 |
198 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10243101 rs760997915 |
199 | A>V | No |
ClinGen ExAC |
|
|
CA411624127 rs1447062220 |
200 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000974333 CA10243103 rs2228181 |
201 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2228181 CA10243104 |
201 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411624143 rs367700144 |
202 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367700144 CA324437631 |
202 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA10243106 rs751006341 |
203 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs767122150 CA411624160 |
205 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207233223 COSM1751885 CA411624163 |
205 | P>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs767122150 CA10243108 |
205 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752363008 CA10243109 |
206 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10243111 rs777575460 |
207 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs564601363 CA10243112 |
208 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146633351 CA10243115 RCV000972140 |
208 | I>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10243114 rs778987567 |
208 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10243113 rs564601363 |
208 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10243116 rs772171586 |
209 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747215775 CA10243118 |
210 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1387727660 CA411624198 |
211 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs539627686 CA10243120 |
213 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA324437659 rs539627686 |
213 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411624219 rs1384839370 |
214 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA411624218 rs1384839370 |
214 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10243122 rs770355543 |
214 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243123 rs773683906 |
217 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10243124 rs139408953 |
217 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10243125 rs139408953 |
217 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411624239 rs1479704176 |
218 | D>N | No |
ClinGen TOPMed |
|
|
CA411624250 rs752311404 |
219 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10243126 rs752311404 |
219 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10243128 rs763800470 |
223 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs906932678 CA324437684 |
223 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10243130 rs757102478 |
227 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10243131 rs779044628 |
228 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243132 rs547982920 |
229 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs780133133 CA10243134 |
230 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780133133 CA10243135 |
230 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1254088656 CA411624329 |
231 | S>F | No |
ClinGen gnomAD |
|
|
rs1389028293 CA411624334 |
232 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10243137 rs781391904 |
232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411624339 rs1318455226 |
233 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411624344 rs1361234878 |
234 | H>D | No |
ClinGen gnomAD |
|
|
CA411624349 rs1396560527 |
234 | H>Q | No |
ClinGen gnomAD |
|
|
rs770110284 CA10243140 |
235 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770110284 CA10243139 |
235 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA411624354 rs1437160564 |
235 | S>I | No |
ClinGen TOPMed |
|
|
CA324437739 rs950409361 |
236 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411624357 rs1231622121 |
236 | P>S | No |
ClinGen gnomAD |
|
|
rs150046216 CA411624366 |
237 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150046216 CA10243141 |
237 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411624372 rs1330240663 |
238 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10243142 rs771492320 |
239 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411624376 rs771492320 |
239 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411624381 rs1468317929 |
240 | G>C | No |
ClinGen TOPMed |
|
|
rs1601762416 CA411624385 |
241 | S>A | No |
ClinGen Ensembl |
|
|
rs751686315 CA324437748 |
241 | S>F | No |
ClinGen gnomAD |
|
|
CA411624393 rs1427410839 |
242 | P>R | No |
ClinGen TOPMed |
|
|
rs527474447 CA10243144 |
242 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10243143 rs527474447 |
242 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411624395 rs1173636886 |
243 | N>D | No |
ClinGen TOPMed |
|
|
CA411624402 rs1362405520 |
244 | R>G | No |
ClinGen TOPMed |
|
|
CA10243147 rs552036293 |
245 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10243146 rs763863444 |
245 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA411624432 rs1458587915 |
248 | S>F | No |
ClinGen gnomAD |
|
|
rs1412339758 CA411624428 |
248 | S>P | No |
ClinGen gnomAD |
|
|
rs1156625694 CA411624438 |
249 | P>L | No |
ClinGen gnomAD |
|
|
rs1304529819 CA411624453 |
252 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA411624451 rs1304529819 |
252 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411624461 rs750409615 |
253 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs750409615 CA411624460 |
253 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA10243150 rs750409615 |
253 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411624466 rs1202696629 |
254 | G>R | No |
ClinGen TOPMed |
|
|
rs1292877479 CA411624472 |
255 | S>A | No |
ClinGen gnomAD |
|
|
rs780005904 CA10243152 |
255 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140871401 CA10243153 |
256 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10243154 rs200470722 |
257 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370215013 CA10243155 |
257 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411624481 rs200470722 |
257 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10243156 rs1803323 RCV000961759 VAR_029259 |
258 | P>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770163255 CA10243157 |
259 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA411624499 rs147899546 |
260 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10243160 rs147899546 |
260 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749762484 CA10243159 |
260 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774454112 CA10243161 |
261 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs774705715 CA411624507 |
261 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411624500 rs1289561764 |
261 | Y>N | No |
ClinGen gnomAD |
|
|
CA411624510 rs1432924327 |
262 | D>A | No |
ClinGen gnomAD |
|
|
rs746575830 CA411624508 |
262 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746575830 CA10243163 |
262 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768251819 CA10243164 |
263 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA324437814 rs934623226 |
263 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10243165 rs776455859 |
264 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761509481 CA10243166 |
265 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10243167 rs148936525 |
266 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377261776 CA10243169 |
268 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324437834 rs893040430 |
268 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411624545 rs1383483026 |
268 | M>V | No |
ClinGen TOPMed |
|
|
rs1385051092 CA411624553 |
269 | V>I | No |
ClinGen TOPMed |
|
|
rs1488668526 CA411624564 |
271 | A>T | No |
ClinGen gnomAD |
|
|
CA10243173 rs372679887 |
273 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10243174 rs767533408 |
274 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767533408 CA10243175 |
274 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411624584 rs1453678356 |
274 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756258147 CA10243176 |
275 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs369819561 CA411624608 |
277 | K>N | No |
ClinGen ESP gnomAD |
|
|
CA10243178 rs777967380 |
278 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777967380 CA411624611 |
278 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757538227 CA411624615 |
279 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA10243181 rs779512289 |
279 | D>E | No |
ClinGen ExAC |
|
|
rs757538227 CA10243180 |
279 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749719594 CA10243179 |
279 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA411624616 rs757538227 |
279 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs907004587 CA324437882 |
280 | K>E | No |
ClinGen TOPMed |
|
|
CA10243183 rs768305008 |
281 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747807293 CA10243185 |
283 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411624655 rs1223362815 |
285 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 285 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411624656 rs1223362815 |
285 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411624653 rs1267464280 |
285 | M>V | No |
ClinGen gnomAD |
|
|
rs769641664 CA10243186 |
286 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs772729966 CA10243188 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA411624679 rs1249893477 |
288 | N>S | No |
ClinGen gnomAD |
|
|
rs1476413842 CA411624683 |
289 | K>Q | No |
ClinGen gnomAD |
|
|
rs1026027404 CA324437904 |
290 | T>I | No |
ClinGen TOPMed |
|
|
CA411624697 rs1166277422 |
291 | A>P | No |
ClinGen gnomAD |
|
|
CA411624705 rs1487868748 |
292 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774364445 CA10243191 |
293 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411624710 rs1167390920 |
293 | T>S | No |
ClinGen gnomAD |
|
|
rs1430137191 CA411624719 |
294 | R>S | No |
ClinGen TOPMed |
|
|
CA10243193 rs759406925 |
295 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA411624729 rs1569026779 |
296 | R>C | No |
ClinGen Ensembl |
|
|
rs1429272758 CA411624730 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1569026789 CA411624734 |
297 | Q>* | No |
ClinGen Ensembl |
|
|
rs752840127 CA10243196 |
297 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1006300408 CA324437931 |
297 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1420908714 CA411624753 |
299 | K>N | No |
ClinGen TOPMed |
|
|
CA411624751 rs1181861621 |
299 | K>R | No |
ClinGen gnomAD |
|
|
rs777862308 CA324437938 |
300 | R>K | No |
ClinGen gnomAD |
|
|
rs1017211406 CA324437941 |
301 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1430369994 CA411624775 |
303 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1430369994 CA411624776 |
303 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1269918590 CA411624778 |
303 | Q>R | No |
ClinGen gnomAD |
|
|
CA10243198 rs764347691 |
305 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10243199 rs369015417 |
307 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411624811 rs1473200277 |
308 | G>A | No |
ClinGen gnomAD |
|
|
CA411624809 rs1473200277 |
308 | G>D | No |
ClinGen gnomAD |
|
|
CA411624806 rs1241532961 |
308 | G>S | No |
ClinGen gnomAD |
|
|
rs1416012246 CA411624821 |
310 | C>R | No |
ClinGen gnomAD |
|
|
rs779098982 CA411624828 |
311 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779098982 CA10243201 |
311 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411624831 rs1601762842 |
311 | K>R | No |
ClinGen Ensembl |
|
|
rs572596597 CA10243202 |
312 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160303890 CA411624835 |
312 | E>K | No |
ClinGen gnomAD |
|
|
CA411624843 rs1399400308 |
313 | L>V | No |
ClinGen gnomAD |
|
|
CA411624856 rs1340532816 |
315 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411624868 rs1569026881 |
316 | K>R | No |
ClinGen Ensembl |
|
|
rs558004697 CA10243206 |
317 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1323684422 CA411624888 |
319 | A>S | No |
ClinGen TOPMed |
|
|
CA411624892 rs777524346 |
320 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773948133 CA10243213 |
321 | K>R | No |
ClinGen ExAC |
|
|
CA10243214 rs1803324 VAR_014768 RCV000965503 |
322 | E>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1279331467 CA411624904 |
322 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10243217 rs138696573 |
324 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10243216 RCV000955606 rs138696573 |
324 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411624923 rs1183173566 |
325 | D>H | No |
ClinGen gnomAD |
|
|
rs754114703 CA10243219 |
325 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436013932 CA411624940 |
328 | A>T | No |
ClinGen gnomAD |
|
|
CA10243223 rs777947241 |
328 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374352995 CA411624951 |
329 | K>N | No |
ClinGen gnomAD |
|
|
rs1172205518 CA411624960 |
330 | E>D | No |
ClinGen TOPMed |
|
|
CA411624963 rs1409984431 |
331 | I>F | No |
ClinGen gnomAD |
|
|
CA10243224 rs189922789 |
331 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409984431 CA411624962 |
331 | I>V | No |
ClinGen gnomAD |
|
|
rs1333765903 CA411624971 |
332 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10243226 rs541765130 |
334 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748971103 CA10243228 |
335 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770552438 CA10243229 |
336 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1044311654 CA324438030 |
336 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411625001 rs1278207469 |
337 | L>V | No |
ClinGen gnomAD |
|
|
rs750748993 CA324438031 |
338 | I>M | No |
ClinGen gnomAD |
|
|
rs1260002794 CA411625019 |
339 | E>D | No |
ClinGen TOPMed |
|
|
CA411625014 rs1180976813 |
339 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1253002258 CA411625033 |
341 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs566819541 CA10243230 |
342 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566819541 CA411625036 |
342 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745712018 CA10243231 |
342 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10243232 rs376877986 |
343 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760557862 CA10243234 |
347 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411625079 rs1299495923 |
348 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411625084 rs1393945230 |
349 | R>K | No |
ClinGen gnomAD |
|
|
CA411625091 rs1397674151 |
350 | V>A | No |
ClinGen TOPMed |
|
|
CA10243237 rs761949909 |
351 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10243236 rs776509275 |
351 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763453138 CA10243240 |
352 | P>W | No |
ClinGen ExAC gnomAD |
No associated diseases with P18848
1 regional properties for P18848
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Basic-leucine zipper domain | 276 - 341 | IPR004827 |
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATF1-ATF4 transcription factor complex | Transcription factor complex consisting of ATF1 and ATF4 subunits that is capable of binding to cAMP response element (CRE) (consensus: 5'-GTGACGT-3') of the GRP78 (HSPA5) promoter. Involved in the ER stress response pathway. |
| ATF4-CREB1 transcription factor complex | Transcription factor complex consisting of ATF4 and CREB1 subunits that is capable of binding to cAMP response element (CRE) (consensus: 5'-GTGACGT-3') as part of the positive regulation of transcription. Regulatory targets include the GRP78 (HSPA5) promoter in humans, whose activation by this complex is part of the ER stress response pathway. |
| CHOP-ATF4 complex | A heterodimeric transcription factor complex that is composed of CHOP (C/EBP homology protein, GADD153) and ATF4 (activating transcription factor 4, also known as cAMP response element binding protein-2/CREB-2) subunits. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite membrane | The portion of the plasma membrane surrounding a dendrite. |
| Lewy body core | The center portion of a Lewy body. In Parkinson's disease, it contains a matted meshwork of filaments. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nuclear periphery | The portion of the nuclear lumen proximal to the inner nuclear membrane. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
18 GO annotations of molecular function
| Name | Definition |
|---|---|
| cAMP response element binding protein binding | Binding to a cAMP response element binding protein (a CREB protein). |
| 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. |
| general transcription initiation factor binding | Binding to a general transcription initiation factor, a protein that contributes to transcription start site selection and transcription initiation. |
| identical protein binding | Binding to an identical protein or proteins. |
| leucine zipper domain binding | Binding to a leucine zipper domain, a protein secondary structure exhibiting a periodic repetition of leucine residues at every seventh position over a distance covering eight helical turns. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| 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. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific DNA binding | Binding to 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. |
| 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. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
50 GO annotations of biological process
| Name | Definition |
|---|---|
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| cellular response to amino acid starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids. |
| cellular response to dopamine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. |
| cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
| cellular response to leucine starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of leucine. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| cellular response to oxygen-glucose deprivation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of the deprivation of oxygen and glucose. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
| embryonic hemopoiesis | The stages of blood cell formation that take place within the embryo. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
| gluconeogenesis | The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. |
| HRI-mediated signaling | A series of reactions in which a signal is passed on to downstream proteins within the cell via HRI (also known as EIF2AK1), an intracellular protein kinase that is activated by stress signals, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock. |
| integrated stress response signaling | The series of molecular signals generated in response to diverse stress stimuli required to restore cellular homeostasis. The core event in this pathway is the phosphorylation of eIF2 alpha by one of four members of the eIF2a kinase family (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2), which leads to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, that together promote cellular recovery. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| L-asparagine metabolic process | The chemical reactions and pathways involving L-asparagine, (2S)-2-amino-3-carbamoylpropanoic acid. |
| lens fiber cell morphogenesis | The process in which the structures of a lens fiber cell are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a lens fiber cell. A lens fiber cell is any of the elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye. |
| mRNA transcription by RNA polymerase II | The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of oxidative stress-induced neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death. |
| negative regulation of potassium ion transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of translational initiation in response to stress | Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| PERK-mediated unfolded protein response | The series of molecular signals mediated by the endoplasmic reticulum membrane stress sensor PERK (PKR-like ER kinase). Begins with activation of PERK in response to endoplasmic reticulum (ER) stress and ends with regulation of a downstream cellular process, e.g. transcription. The main substrate of PERK is the translation initiation factor eIF2alpha. Serine-phosphorylation of eIF2alpha by PERK inactivates eIF2alpha and inhibits general protein translation. In addition, eIF2alpha phosphorylation preferentially increases the translation of selective mRNAs such as ATF4 (activating transcription factor 4), which up regulates a subset of UPR genes required to restore folding capacity. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of biomineral tissue development | Any process that activates or increases the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. |
| 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 neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
| positive regulation of sodium-dependent phosphate transport | Any process that activates or increases the frequency, rate or extent of sodium-dependent phosphate transport. |
| positive regulation of transcription by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I. |
| 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. |
| positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of an arsenic stimulus from compounds containing arsenic, including arsenates, arsenites, and arsenides. |
| positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of an endoplasmic reticulum stress. |
| positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| positive regulation of transcription from RNA polymerase II promoter in response to stress | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). |
| positive regulation of vascular associated smooth muscle cell apoptotic process | Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. |
| positive regulation of vascular endothelial growth factor production | Any process that increases or activates the frequency, rate, or extent of production of vascular endothelial growth factor. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of osteoblast differentiation | Any process that modulates the frequency, rate or extent of osteoblast differentiation. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| response to manganese-induced endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endoplasmic reticulum stress caused by a manganese stimulus. |
| response to nutrient levels | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTEMSFLSSE | VLVGDLMSPF | DQSGLGAEES | LGLLDDYLEV | AKHFKPHGFS | SDKAKAGSSE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WLAVDGLVSP | SNNSKEDAFS | GTDWMLEKMD | LKEFDLDALL | GIDDLETMPD | DLLTTLDDTC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLFAPLVQET | NKQPPQTVNP | IGHLPESLTK | PDQVAPFTFL | QPLPLSPGVL | SSTPDHSFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELGSEVDITE | GDRKPDYTAY | VAMIPQCIKE | EDTPSDNDSG | ICMSPESYLG | SPQHSPSTRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPNRSLPSPG | VLCGSARPKP | YDPPGEKMVA | AKVKGEKLDK | KLKKMEQNKT | AATRYRQKKR |
| 310 | 320 | 330 | 340 | 350 | |
| AEQEALTGEC | KELEKKNEAL | KERADSLAKE | IQYLKDLIEE | VRKARGKKRV | P |