P08833
Gene name |
IGFBP1 (IBP1) |
Protein name |
Insulin-like growth factor-binding protein 1 |
Names |
IBP-1, IGF-binding protein 1, IGFBP-1, Placental protein 12, PP12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3484 |
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
4 structures for P08833
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZT3 | X-ray | 180 A | A | 172-251 | PDB |
| 1ZT5 | X-ray | 182 A | A | 172-251 | PDB |
| 2DSQ | X-ray | 280 A | G/H | 166-259 | PDB |
| AF-P08833-F1 | Predicted | AlphaFoldDB |
257 variants for P08833
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4249529 rs747541587 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs148297000 CA4249530 |
6 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777344533 CA4249531 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1327235387 CA367438948 |
8 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4249532 rs111255251 |
9 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770884467 CA4249533 |
10 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA367438991 rs1156892103 |
12 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA158012801 rs1013993759 |
16 | L>P | No |
ClinGen Ensembl |
|
|
CA4249537 rs775494697 |
18 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA158012807 rs1033685071 |
19 | Q>* | No |
ClinGen TOPMed |
|
|
CA4249539 rs138841724 |
20 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367439164 rs1334797638 |
21 | G>R | No |
ClinGen gnomAD |
|
|
rs1334797638 CA367439161 |
21 | G>S | No |
ClinGen gnomAD |
|
|
CA4249540 rs776759256 |
22 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310779795 CA367439178 |
22 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761982277 CA4249541 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765612314 CA4249542 |
27 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758909946 CA4249544 |
27 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765612314 CA4249543 |
27 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4249545 rs766860058 |
28 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA158012859 rs373659181 |
29 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367439318 rs1437433476 |
30 | C>Y | No |
ClinGen gnomAD |
|
|
CA367439340 rs1562794853 |
31 | A>E | No |
ClinGen Ensembl |
|
|
rs777300659 CA4249548 |
31 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748974940 CA4249549 |
33 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1375805567 CA367439400 |
35 | A>S | No |
ClinGen gnomAD |
|
|
CA4249552 rs745725926 |
37 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4249553 rs376937815 |
39 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA158012892 rs570379585 |
39 | A>T | No |
ClinGen 1000Genomes |
|
|
CA158012906 rs376937815 |
39 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs775339662 CA4249554 |
40 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4249555 rs746935293 |
41 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1583659797 CA367439538 |
42 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439444908 CA367439532 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs762033595 CA4249559 |
44 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367439602 rs1346405253 |
45 | S>Y | No |
ClinGen TOPMed |
|
|
CA4249560 rs769935884 |
46 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4249561 rs773415946 |
47 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4249562 rs537400616 |
48 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1265229030 CA367439650 |
49 | S>L | No |
ClinGen gnomAD |
|
|
rs1193074747 CA367439645 |
49 | S>T | No |
ClinGen gnomAD |
|
|
CA367439681 rs1176635610 |
51 | V>A | No |
ClinGen gnomAD |
|
|
rs1434812225 CA367439677 |
51 | V>F | No |
ClinGen gnomAD |
|
|
CA367439690 rs1583659842 |
52 | T>N | No |
ClinGen Ensembl |
|
|
rs766739368 CA367439706 |
53 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA367439716 rs1463803822 |
53 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367439714 rs1463803822 |
53 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs752043707 CA4249564 |
55 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA367439737 rs752043707 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA158012969 rs1032901864 |
56 | G>A | No |
ClinGen Ensembl |
|
|
CA4249566 rs370226543 |
56 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753334604 CA4249567 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302538902 CA367439808 |
58 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1217126161 CA367439862 |
61 | P>S | No |
ClinGen gnomAD |
|
|
rs1318871592 CA367439902 |
63 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA158012986 rs910893952 |
64 | A>D | No |
ClinGen TOPMed |
|
|
CA367439919 rs1213194448 |
64 | A>P | No |
ClinGen gnomAD |
|
|
rs1213194448 CA367439921 |
64 | A>S | No |
ClinGen gnomAD |
|
|
CA367439964 rs1489480063 |
66 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1489480063 CA367439961 |
66 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 66 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367439983 rs1476751607 |
68 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367439980 rs1476751607 |
68 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1195568130 CA367439997 |
69 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367440050 rs1162202771 |
71 | C>* | No |
ClinGen gnomAD |
|
|
rs1583659914 CA367440047 |
71 | C>F | No |
ClinGen Ensembl |
|
|
CA367440055 rs1351148829 |
72 | G>S | No |
ClinGen gnomAD |
|
|
CA367440092 rs1294648621 |
73 | V>G | No |
ClinGen gnomAD |
|
|
rs779860070 CA4249572 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4249573 rs746942337 |
74 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA367440133 rs1341463387 |
76 | A>S | No |
ClinGen gnomAD |
|
|
CA367440141 rs1562794950 |
76 | A>V | No |
ClinGen Ensembl |
|
|
CA158013002 rs972770798 |
77 | R>C | No |
ClinGen TOPMed |
|
|
CA367440177 rs1317620826 |
78 | C>* | No |
ClinGen TOPMed |
|
|
CA367440193 rs1232927605 |
79 | A>V | No |
ClinGen gnomAD |
|
|
rs1259177665 CA367440200 |
80 | R>W | No |
ClinGen TOPMed |
|
|
rs781252053 CA367440221 |
81 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781252053 CA367440219 |
81 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781252053 CA4249575 |
81 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448789856 CA367440247 |
83 | S>N | No |
ClinGen TOPMed |
|
|
CA4249576 rs748293019 |
83 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448789856 CA367440248 |
83 | S>T | No |
ClinGen TOPMed |
|
|
rs1487249479 CA367440269 |
84 | C>F | No |
ClinGen gnomAD |
|
|
rs1218583203 CA367440282 |
85 | R>S | No |
ClinGen gnomAD |
|
|
CA367440313 rs1179762272 |
86 | A>E | No |
ClinGen gnomAD |
|
|
CA367440300 rs1474735357 |
86 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4249579 rs773469271 |
88 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA367440349 rs1157730907 |
89 | G>R | No |
ClinGen gnomAD |
|
|
rs771227052 CA4249581 |
90 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747136225 | 90 | E>S | Variant assessed as Somatic; 0.0001703 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473458407 CA367440419 |
92 | Q>H | No |
ClinGen TOPMed |
|
|
CA367440429 rs1235848036 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs1457764208 CA367440479 |
95 | H>Q | No |
ClinGen TOPMed |
|
|
rs1057021005 CA158013019 |
95 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367440508 rs1239140332 |
97 | L>F | No |
ClinGen TOPMed |
|
|
rs1207125876 CA367440512 |
97 | L>H | No |
ClinGen TOPMed |
|
|
CA367440533 rs1301372580 |
99 | R>G | No |
ClinGen gnomAD |
|
|
CA367440540 rs1320317177 |
99 | R>L | No |
ClinGen TOPMed |
|
|
rs1229002119 CA367440571 |
102 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4249583 rs759968281 |
103 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4249584 rs768208775 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA158013045 rs949506485 |
104 | C>* | No |
ClinGen Ensembl |
|
|
CA158013039 rs896568415 |
104 | C>R | No |
ClinGen Ensembl |
|
|
rs1286568446 CA367440612 |
105 | V>E | No |
ClinGen gnomAD |
|
|
CA367440605 rs1361607428 |
105 | V>L | No |
ClinGen TOPMed |
|
|
CA367440626 rs1485231887 |
106 | Q>* | No |
ClinGen gnomAD |
|
|
CA4249587 rs764809981 |
106 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs10156070 CA4249586 |
106 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367440656 rs1483356970 |
107 | E>G | No |
ClinGen gnomAD |
|
|
CA158013090 rs374816684 |
108 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1001299186 CA367440682 |
109 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA158013092 rs1001299186 |
109 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs937250620 CA158013091 |
109 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1160985621 CA367440702 |
110 | A>P | No |
ClinGen gnomAD |
|
|
CA367440704 rs1160985621 |
110 | A>S | No |
ClinGen gnomAD |
|
|
rs1331885776 CA367440727 |
111 | S>F | No |
ClinGen gnomAD |
|
|
CA158013096 rs76681789 |
112 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA367440745 rs1414324414 |
113 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367440742 rs1414324414 |
113 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs78816847 CA4249588 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs41258845 VAR_049564 CA4249589 |
114 | H>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1361167833 CA367440751 |
114 | H>L | No |
ClinGen gnomAD |
|
|
CA367440753 rs1361167833 |
114 | H>P | No |
ClinGen gnomAD |
|
|
rs1390110643 CA367441440 |
117 | E>D | No |
ClinGen gnomAD |
|
|
CA4249616 rs749453265 |
118 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367441441 rs777838279 |
118 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777838279 CA4249615 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029772778 CA158013949 |
120 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1029772778 CA158013947 |
120 | S>T | No |
ClinGen Ensembl |
|
|
CA4249618 rs531101667 |
121 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA367441476 rs1399209964 |
121 | P>S | No |
ClinGen gnomAD |
|
|
rs1342089911 CA367441495 |
122 | E>D | No |
ClinGen gnomAD |
|
|
rs1016874043 CA158013962 |
125 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367441538 rs1283172493 |
126 | S>N | No |
ClinGen gnomAD |
|
|
CA4249619 COSM1243316 rs775473368 |
127 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA367441560 rs1437526404 |
128 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775949573 CA4249621 |
129 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA158013979 rs910135238 |
130 | T>P | No |
ClinGen gnomAD |
|
|
rs941595873 CA158013985 |
131 | E>* | No |
ClinGen TOPMed |
|
|
rs1216411756 CA367441604 |
132 | E>K | No |
ClinGen gnomAD |
|
|
CA4249622 rs747531500 |
133 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs776999181 CA4249624 |
135 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765781399 CA4249626 |
137 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA158014002 rs539115833 |
139 | H>L | No |
ClinGen Ensembl |
|
|
rs759147038 CA4249628 |
141 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409401742 CA367441747 |
143 | P>S | No |
ClinGen gnomAD |
|
|
CA367441764 rs1308828636 |
144 | S>F | No |
ClinGen gnomAD |
|
|
CA4249629 rs767318856 |
144 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755900621 CA4249631 |
145 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs138105891 CA4249632 |
148 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA158014029 rs949807893 |
148 | H>Y | No |
ClinGen Ensembl |
|
|
rs753700859 CA4249633 |
149 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA158014043 rs868069218 |
151 | L>I | No |
ClinGen Ensembl |
|
|
CA158014065 rs17854947 |
151 | L>P | No |
ClinGen Ensembl |
|
|
CA4249635 rs9658209 |
153 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4249636 rs566229997 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758636859 CA4249637 |
154 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367441911 rs1284427013 |
156 | S>N | No |
ClinGen gnomAD |
|
|
rs1356358036 CA367441930 |
157 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4249638 COSM1210366 rs552821872 |
158 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1255783346 CA367441972 |
160 | G>V | No |
ClinGen gnomAD |
|
|
CA4249639 rs368245176 |
161 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4249641 rs781746463 |
162 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752223172 CA367442008 |
163 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752223172 CA4249642 |
163 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205490817 CA367442036 |
166 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546971229 CA4249643 |
169 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4249644 rs773682817 |
170 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4249663 rs778342842 CA4249664 |
174 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367442207 rs1463639023 |
174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760281769 CA4249666 |
175 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4249667 rs760281769 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768523904 CA4249665 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473391802 CA367442237 |
176 | C>* | No |
ClinGen TOPMed |
|
|
CA4249668 rs776233561 |
177 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369196046 CA4249669 COSM281874 |
177 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs948759128 CA158014688 |
178 | I>T | No |
ClinGen gnomAD |
|
|
CA4249672 rs763174847 |
182 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1065782 VAR_011905 CA4249673 |
183 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146202574 COSM3765352 CA4249675 |
184 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146202574 CA367442317 |
184 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367442322 rs1430137720 |
185 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1199838569 CA367442341 |
186 | S>N | No |
ClinGen gnomAD |
|
|
rs1434754969 CA367442336 |
186 | S>R | No |
ClinGen gnomAD |
|
|
CA367442355 rs1331427952 |
187 | L>S | No |
ClinGen TOPMed |
|
|
CA158014703 rs759646065 |
188 | A>T | No |
ClinGen Ensembl |
|
|
rs767935469 CA4249676 |
191 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1476647274 CA367442422 |
193 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs974487740 CA158014706 |
193 | T>I | No |
ClinGen TOPMed |
|
|
CA367442421 rs1476647274 |
193 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756491869 CA4249678 |
194 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA367442445 rs1389200541 |
195 | G>R | No |
ClinGen gnomAD |
|
|
CA158014714 rs752931809 |
196 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA158014716 rs763075160 |
197 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 197 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA158014718 rs1053533634 |
199 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367442534 rs1284303624 |
202 | Y>S | No |
ClinGen gnomAD |
|
|
rs1445915852 CA367442545 |
203 | L>P | No |
ClinGen gnomAD |
|
|
CA4249681 rs757935661 |
203 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1321034000 CA367442558 |
204 | P>L | No |
ClinGen TOPMed |
|
|
CA4249682 rs369361373 |
204 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369361373 CA4249683 |
204 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1011797601 CA158014728 |
206 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 208 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367442615 rs1244148125 |
209 | N>D | No |
ClinGen gnomAD |
|
|
rs1458636725 CA367442631 |
210 | G>* | No |
ClinGen TOPMed |
|
|
rs747950009 CA4249686 |
212 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4249687 rs769609357 |
214 | S>N | Variant assessed as Somatic; 0.0003236 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1487147268 CA367442697 |
215 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs117054298 CA4249705 |
218 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773089001 CA4249706 |
220 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1386183199 CA367443128 |
221 | M>T | No |
ClinGen TOPMed |
|
|
rs201339143 CA4249707 |
223 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367443175 rs1453446235 |
225 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs774337911 CA4249709 |
227 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA158015103 rs905081489 |
229 | W>* | No |
ClinGen Ensembl |
|
|
rs1242126188 CA367443225 |
229 | W>L | No |
ClinGen gnomAD |
|
|
CA4249710 rs759586433 |
230 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370766303 CA4249712 |
231 | V>I | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760906614 CA4249714 |
237 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764456292 CA4249715 |
240 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs956735181 CA158015128 |
241 | G>E | No |
ClinGen TOPMed |
|
|
CA367443370 rs956735181 |
241 | G>V | No |
ClinGen TOPMed |
|
|
rs1179398441 CA367443381 |
242 | S>F | No |
ClinGen gnomAD |
|
|
rs1562574065 CA367443372 |
242 | S>T | No |
ClinGen Ensembl |
|
|
CA4249717 rs762162861 |
243 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762162861 CA367443384 |
243 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4249718 rs141120529 |
244 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562574071 CA367443413 |
246 | R>G | No |
ClinGen Ensembl |
|
|
rs754485600 CA4249721 |
247 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367443443 rs1583661895 |
248 | D>A | No |
ClinGen Ensembl |
|
|
CA367443448 rs1470382164 |
248 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375166026 CA4249723 |
250 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780713458 CA4249722 |
250 | N>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 251 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA158015151 rs1020324299 |
251 | C>Y | No |
ClinGen Ensembl |
|
|
CA367443499 COSM341493 rs1209674213 |
252 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4249724 VAR_003821 rs4619 |
253 | I>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367443509 rs1331292020 |
253 | I>T | No |
ClinGen TOPMed |
|
|
rs531622833 CA367443551 |
256 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1331567482 CA367443560 |
257 | V>A | No |
ClinGen TOPMed |
|
|
rs770829397 CA4249727 |
258 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs778759405 CA4249728 |
260 | N>R | No |
ClinGen ExAC gnomAD |
No associated diseases with P08833
3 regional properties for P08833
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| insulin-like growth factor binding | Binding to an insulin-like growth factor, any member of a group of polypeptides that are structurally homologous to insulin and share many of its biological activities, but are immunologically distinct from it. |
| insulin-like growth factor I binding | Binding to insulin-like growth factor I. |
| insulin-like growth factor II binding | Binding to insulin-like growth factor II. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
| multicellular organism aging | An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| regulation of insulin-like growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of insulin-like growth factor receptor signaling. |
| response to organic cyclic compound | 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 an organic cyclic compound stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| tissue regeneration | The regrowth of lost or destroyed tissues. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSEVPVARVW | LVLLLLTVQV | GVTAGAPWQC | APCSAEKLAL | CPPVSASCSE | VTRSAGCGCC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PMCALPLGAA | CGVATARCAR | GLSCRALPGE | QQPLHALTRG | QGACVQESDA | SAPHAAEAGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PESPESTEIT | EEELLDNFHL | MAPSEEDHSI | LWDAISTYDG | SKALHVTNIK | KWKEPCRIEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YRVVESLAKA | QETSGEEISK | FYLPNCNKNG | FYHSRQCETS | MDGEAGLCWC | VYPWNGKRIP |
| 250 | |||||
| GSPEIRGDPN | CQIYFNVQN |