P01127
PR
Gene name |
PDGFB (PDGF2, SIS) |
Protein name |
Platelet-derived growth factor subunit B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5155 |
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
7 structures for P01127
224 variants for P01127
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000066220 rs398122399 |
1 | M>I | Basal ganglia calcification, idiopathic, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253677 rs1932632616 |
1 | M>V | Basal ganglia calcification, idiopathic, 5 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070870 | 9 | L>R | IBGC5; loss of protein expression [UniProt] | Yes | UniProt |
|
rs1242118984 RCV001330744 |
24 | P>H | Basal ganglia calcification, idiopathic, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070871 RCV000066214 CA145262 rs397515632 |
119 | L>P | Basal ganglia calcification, idiopathic, 5 (ibgc5) Basal ganglia calcification, idiopathic, 5 IBGC5; loss of protein expression [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000066212 RCV002460906 rs397515631 CA145260 |
145 | Q>* | Basal ganglia calcification, idiopathic, 5 (ibgc5) Basal ganglia calcification, idiopathic, 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515633 RCV000066218 RCV003128577 CA145265 |
149 | R>* | Basal ganglia calcification, idiopathic, 5 (ibgc5) Basal ganglia calcification, idiopathic, 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000625215 CA10240032 RCV000960323 rs114786489 RCV001579660 |
212 | T>M | Dermatofibrosarcoma protuberans [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM379291 RCV000899280 CA10240017 COSM379289 COSM379290 rs146468845 RCV000625214 |
224 | R>W | lung Dermatofibrosarcoma protuberans [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1932148548 RCV001195858 |
239 | L>P | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA145263 rs398122398 RCV000066216 |
242 | A>Y | Basal ganglia calcification, idiopathic, 5 (ibgc5) Basal ganglia calcification, idiopathic, 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000441852 rs1057520576 |
1 | M>R | No |
ClinVar dbSNP |
|
|
rs1291007745 CA411604531 |
3 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs901925259 CA324369346 |
5 | W>R | No |
ClinGen TOPMed |
|
|
rs752369241 CA10240337 |
6 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411604491 rs1477000894 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs752369241 CA10240336 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240335 rs370897065 |
7 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1039122907 CA324369337 |
8 | F>L | No |
ClinGen TOPMed |
|
|
CA10240333 rs200943853 |
10 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA324369333 rs200943853 |
10 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201522786 COSM1740766 RCV000890207 COSM1740765 CA10240332 |
12 | C>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411604422 rs1273654381 |
13 | C>Y | No |
ClinGen gnomAD |
|
|
rs1337098480 CA411604393 |
15 | L>P | No |
ClinGen gnomAD |
|
|
CA10240330 rs777022864 |
16 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271703210 CA411604383 |
17 | L>V | No |
ClinGen TOPMed |
|
|
rs764421332 CA10240329 |
18 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10240328 rs760830077 |
19 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246937149 CA411604347 |
20 | A>D | No |
ClinGen TOPMed |
|
|
rs1223244913 CA411604353 |
20 | A>T | No |
ClinGen TOPMed |
|
|
CA10240326 rs772048678 |
21 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1601600246 CA411603159 |
23 | D>A | No |
ClinGen Ensembl |
|
|
CA10240260 rs745440692 |
23 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411603150 rs1242118984 |
24 | P>R | No |
ClinGen gnomAD |
|
|
rs756682899 CA10240258 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1275509756 CA411603136 |
27 | E>K | No |
ClinGen gnomAD |
|
|
rs866723352 CA324364260 |
28 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs934730166 CA324364259 |
29 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10240257 rs139174743 |
30 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781635346 CA10240256 |
36 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601600204 CA411603069 |
36 | H>Y | No |
ClinGen Ensembl |
|
|
rs370558688 CA10240255 |
37 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10240253 COSM125281 rs766770139 |
39 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411603052 rs766770139 |
39 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324364250 rs1028545582 |
39 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1461791828 CA411603010 |
45 | Q>K | No |
ClinGen gnomAD |
|
|
CA10240252 rs758693929 |
46 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000958222 CA10240251 rs146223851 |
46 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411603004 rs758693929 |
46 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224852222 CA411602978 |
49 | H>N | No |
ClinGen TOPMed |
|
|
CA10240249 rs761833789 |
49 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1194753438 CA411602961 |
50 | G>E | No |
ClinGen gnomAD |
|
|
CA10240247 rs763955158 |
50 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10240245 rs141709643 |
52 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766166504 CA10240246 |
52 | P>S | No |
ClinGen ExAC |
|
|
RCV000881167 rs148252800 CA10240243 |
53 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1456486786 CA411602501 |
54 | E>D | No |
ClinGen TOPMed |
|
|
CA324362673 rs928223506 |
57 | G>E | No |
ClinGen Ensembl |
|
|
CA411602443 rs1165442073 |
57 | G>R | No |
ClinGen TOPMed |
|
|
CA10240207 rs767328817 |
58 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1714403 rs1382001698 COSM1714405 CA411602403 COSM1714404 |
59 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs868788162 CA324362668 |
60 | L>W | No |
ClinGen Ensembl |
|
|
rs766001837 CA10240204 |
63 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10240202 rs772650618 |
66 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772650618 CA411602273 |
66 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190122588 CA10240201 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10240200 rs190122588 |
66 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770014921 CA324362632 |
68 | H>Q | No |
ClinGen Ensembl |
|
|
rs1204597536 CA411602234 |
68 | H>R | No |
ClinGen gnomAD |
|
|
CA411602206 rs1267130671 |
70 | G>A | No |
ClinGen TOPMed |
|
|
CA324362631 rs201914908 |
71 | G>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA411602202 rs1485529140 |
71 | G>R | No |
ClinGen gnomAD |
|
|
CA411602187 rs1292384272 |
72 | E>D | No |
ClinGen gnomAD |
|
|
CA10240198 rs772581261 |
72 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411602155 rs1466105758 |
75 | S>I | No |
ClinGen TOPMed |
|
|
CA411602153 rs1189413519 |
75 | S>R | No |
ClinGen TOPMed |
|
|
CA10240196 rs779333096 |
79 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411602076 rs1242768813 |
82 | S>R | No |
ClinGen TOPMed |
|
|
rs749504174 CA10240194 |
83 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs907926800 CA324361389 |
84 | G>D | No |
ClinGen TOPMed |
|
|
CA411601181 rs756967805 |
87 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756967805 CA10240162 |
87 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374727060 CA10240160 |
88 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10240161 rs17565 RCV000899986 VAR_014578 |
88 | I>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1228462554 CA411601167 |
89 | A>P | No |
ClinGen gnomAD |
|
|
rs1237058477 CA411601133 |
91 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10240154 rs770065392 |
93 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377503522 CA10240155 |
93 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776599710 CA10240152 |
95 | A>T | Variant assessed as Somatic; 4.755e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1434218151 CA411601085 |
95 | A>V | No |
ClinGen gnomAD |
|
|
CA324361282 rs141576265 |
96 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411601082 rs141576265 |
96 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411601044 rs1326288460 |
99 | T>A | No |
ClinGen gnomAD |
|
|
COSM3424183 rs139127455 COSM3424184 COSM3424185 RCV000912297 CA10240150 |
99 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411601029 rs1180781773 |
100 | R>C | No |
ClinGen gnomAD |
|
|
CA411601027 rs1435766965 |
100 | R>L | No |
ClinGen gnomAD |
|
|
CA10240146 rs778821660 |
102 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324361266 rs778821660 |
102 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753490148 CA10240144 |
105 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763543941 CA10240143 |
106 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240142 rs755584077 |
107 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10240141 rs752017242 |
108 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411600907 rs1337863708 |
108 | R>W | No |
ClinGen gnomAD |
|
|
CA10240140 rs373974432 |
109 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763444206 CA10240139 |
109 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240138 rs532811473 |
110 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA324361226 rs532811473 |
110 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205836152 CA411600857 |
112 | D>N | No |
ClinGen TOPMed |
|
|
rs368705930 CA324361219 |
113 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368705930 CA10240137 |
113 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564553038 CA10240136 |
113 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768635148 CA324361207 |
115 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468435302 CA411600821 |
115 | N>S | No |
ClinGen gnomAD |
|
|
rs1601597790 CA411600810 |
116 | A>S | No |
ClinGen Ensembl |
|
|
CA10240133 rs747172866 |
117 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA411600775 rs1361748624 |
119 | L>V | No |
ClinGen TOPMed |
|
|
rs1158702707 CA411600728 |
123 | P>L | No |
ClinGen TOPMed |
|
|
CA10240130 rs745779235 |
125 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1601597749 CA411600684 |
127 | V>G | No |
ClinGen Ensembl |
|
|
CA16043180 rs1057517925 RCV000413661 |
129 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA411600656 rs1353306729 |
130 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16040468 rs867411237 |
133 | C>F | No |
ClinGen Ensembl |
|
|
CA411600612 rs1314691475 |
134 | C>R | No |
ClinGen TOPMed |
|
|
rs960375709 CA324361173 |
136 | N>S | No |
ClinGen Ensembl |
|
|
CA10240126 rs777425676 |
137 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755704691 CA10240125 |
137 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755704691 CA411600572 |
137 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411600568 rs1398821147 |
138 | N>D | No |
ClinGen gnomAD |
|
|
rs371522759 CA10240123 |
139 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460632799 CA411600544 |
140 | Q>K | No |
ClinGen gnomAD |
|
|
CA411600540 rs1415242276 |
140 | Q>P | No |
ClinGen gnomAD |
|
|
CA10240122 rs758929255 |
142 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750892467 CA10240121 |
142 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs762111559 CA10240119 |
145 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs116555717 CA10240120 |
145 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333081643 CA411600461 |
147 | Q>* | No |
ClinGen gnomAD |
|
|
CA10240118 rs754140098 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201990837 CA10240092 |
157 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411600026 rs1231417113 |
159 | V>G | No |
ClinGen gnomAD |
|
|
CA10240089 rs769438408 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773106218 CA10240091 |
160 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA324359820 rs200484202 |
164 | I>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 168 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411599872 rs1279689671 |
169 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143980537 CA10240088 |
169 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10240087 rs143980537 |
169 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551479078 CA10240085 |
171 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10240084 rs779509116 RCV001269835 |
171 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10240082 rs749711227 |
177 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs938487402 CA324359784 |
180 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1311738960 CA411599680 |
180 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868352019 CA324359783 |
181 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778228697 CA10240081 |
182 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752976558 CA10240079 |
183 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10240080 rs756365862 |
183 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755243108 CA10240077 |
185 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10240078 rs755243108 |
185 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10240076 rs751725172 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411599554 rs146204796 |
187 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146204796 CA10240074 |
187 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139111221 CA10240075 |
187 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914575595 CA324359743 |
188 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411599545 rs914575595 |
188 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10240071 rs761574566 |
191 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10240070 rs776409973 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768337269 CA10240069 |
193 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA411599418 rs1412409008 |
194 | G>E | No |
ClinGen gnomAD |
|
|
CA10240066 rs771445407 |
195 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1405838486 CA411599410 |
195 | G>D | No |
ClinGen TOPMed |
|
|
rs139548530 CA10240063 |
199 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10240064 rs778082820 |
199 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10240062 rs748590340 COSM1034272 COSM1034271 COSM1034273 |
200 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1207769785 CA411598507 |
202 | K>I | No |
ClinGen gnomAD |
|
|
rs150560474 COSM1034269 COSM1034270 COSM1034268 CA10240042 |
203 | T>M | endometrium Variant assessed as Somatic; 9.272e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10240040 rs758645604 |
204 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234152112 CA411598476 |
205 | Q>H | No |
ClinGen TOPMed |
|
|
CA10240038 rs779029549 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141759813 CA10240039 |
207 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10240037 rs757209933 |
208 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1370793206 CA411598453 |
208 | V>L | No |
ClinGen gnomAD |
|
|
CA10240034 rs148055482 |
211 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10240035 rs748120255 |
211 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114786489 CA10240033 |
212 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1049619055 CA16040469 |
213 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773778716 CA10240030 |
214 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754809286 COSM1484241 COSM1484243 COSM1484242 CA324357231 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs371825684 CA10240028 |
216 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769275399 CA411598371 |
217 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240026 rs769275399 |
217 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM368830 CA10240027 rs777222452 COSM368831 COSM368829 |
217 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1276134528 CA411598359 |
218 | P>L | No |
ClinGen gnomAD |
|
|
CA411598365 rs1481797088 |
218 | P>S | No |
ClinGen gnomAD |
|
|
rs1481797088 CA411598368 |
218 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10240025 rs200444646 |
219 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10240024 rs200444646 |
219 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10240022 rs746054014 |
220 | K>Q | No |
ClinGen ExAC |
|
| rs1274478632 | 220 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757263066 CA10240020 |
221 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA411598297 rs146468845 |
224 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752475106 COSM1034264 COSM1034262 CA10240016 COSM1034263 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA324357191 rs952731348 |
228 | H>N | No |
ClinGen Ensembl |
|
|
rs754605938 CA10240014 |
229 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754605938 CA411598225 |
229 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411598211 rs1377932029 |
230 | H>R | No |
ClinGen gnomAD |
|
|
rs1467399130 CA411598215 |
230 | H>Y | No |
ClinGen gnomAD |
|
|
CA324357175 rs985101831 |
231 | D>G | No |
ClinGen TOPMed |
|
|
rs1180723064 CA411598202 |
231 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1420501684 CA411598191 |
232 | K>E | No |
ClinGen TOPMed |
|
|
rs531185137 COSM1566452 COSM1566451 CA10240011 COSM1566450 |
233 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201229710 CA10240009 |
234 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1026545262 CA324357156 |
235 | L>R | No |
ClinGen TOPMed |
|
|
CA10240008 rs766113027 |
235 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775740429 CA411598146 |
239 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240007 rs775740429 |
239 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267606251 CA10240004 |
241 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267606251 CA10240005 |
241 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10240006 rs772443417 |
241 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs267606251 CA324357155 |
241 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with P01127
[MIM: 615483]: Basal ganglia calcification, idiopathic, 5 (IBGC5)
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:23913003, ECO:0000269|PubMed:26599395}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:23913003, ECO:0000269|PubMed:26599395}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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 lumen | The volume enclosed by the membranes of any cisterna or subcompartment of the Golgi apparatus, including the cis- and trans-Golgi networks. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| platelet-derived growth factor complex | A protein complex consisting of two chains of platelet-derived growth factor (PDGF) subunits. PDGF dimers bind to PDGF receptors in the plasma membrane and induce receptor dimerisation and activation. PDGFs are involved in a wide variety of signalling processes. PDGFs are found in all vertebrates where at least 2 different chains (A and B) exist. In human (and other mammals), four types of PDGF chains (A, B, C, and D) are known which form five different dimers (AA, AB, BB, CC and DD). |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| chemoattractant activity | Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a higher concentration of that signal. |
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
| growth factor receptor binding | Binding to a growth factor receptor. |
| identical protein binding | Binding to an identical protein or proteins. |
| platelet-derived growth factor binding | Binding to platelet-derived growth factor. |
| platelet-derived growth factor receptor binding | Binding to a platelet-derived growth factor receptor. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| superoxide-generating NADPH oxidase activator activity | Increases the activity of the enzyme superoxide-generating NADPH oxidase. |
60 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| activation of protein kinase B activity | Any process that initiates the activity of the inactive enzyme protein kinase B. |
| cell chemotaxis | The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| cellular response to growth factor stimulus | 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 growth factor stimulus. |
| cellular response to mycophenolic acid | 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 mycophenolic acid stimulus. |
| cellular response to platelet-derived growth factor stimulus | 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 platelet-derived growth factor stimulus. |
| embryonic placenta development | The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| interleukin-18-mediated signaling pathway | The series of molecular signals initiated by interleukin-18 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| metanephric glomerular mesangial cell development | The process whose specific outcome is the progression of a glomerular mesangial cell in the metanephros over time, from its formation to the mature structure. |
| monocyte chemotaxis | The movement of a monocyte in response to an external stimulus. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| 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). |
| negative regulation of miRNA transcription | Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription. |
| negative regulation of phosphatidylinositol biosynthetic process | Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. |
| negative regulation of platelet activation | Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| negative regulation of vascular associated smooth muscle cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation. |
| paracrine signaling | The transfer of information from one cell to another, where the signal travels from the signal-producing cell to the receiving cell by passive diffusion or bulk flow in intercellular fluid. The signaling cell and the receiving cell are usually in the vicinity of each other. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| platelet-derived growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of blood vessel endothelial cell migration | Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. |
| positive regulation of calcium ion import | Any process that increases the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle. |
| positive regulation of cell division | Any process that activates or increases the frequency, rate or extent of cell division. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of cell-substrate adhesion | Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| positive regulation of chemotaxis | Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. |
| positive regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that activates or increases the frequency, rate or extent of CDK activity. |
| positive regulation of DNA biosynthetic process | Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process. |
| 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 endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of fibroblast proliferation | Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| 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 glomerular filtration | Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. |
| positive regulation of glomerular mesangial cell proliferation | Any process that increases the frequency, rate or extent of glomerular mesangial cell proliferation. |
| positive regulation of hyaluronan biosynthetic process | Any process that activates or increases the frequency, rate or extent of hyaluronan biosynthetic process. |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of metanephric mesenchymal cell migration | Any process that activates or increases the frequency, rate or extent of metanephric mesenchymal cell migration. |
| positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | Any process that increases the frequency, rate or extent of metanephric mesenchymal cell migration resulting from the platelet-derived growth factor receptor-beta signaling pathway. |
| positive regulation of miRNA transcription | Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription. |
| positive regulation of mitotic nuclear division | Any process that activates or increases the frequency, rate or extent of mitosis. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
| positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| positive regulation of protein autophosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation by a protein of one or more of its own residues. |
| positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
| positive regulation of reactive oxygen species metabolic process | Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process. |
| positive regulation of smooth muscle cell migration | Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration. |
| positive regulation of smooth muscle cell proliferation | Any process that activates or increases the rate or extent of smooth muscle cell proliferation. |
| positive regulation of vascular associated smooth muscle cell dedifferentiation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell dedifferentiation. |
| positive regulation of vascular associated smooth muscle cell migration | Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| protein kinase C signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| reactive oxygen species metabolic process | The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. |
| response to wounding | 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 indicating damage to the organism. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31240 | Pdgfb | Platelet-derived growth factor subunit B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRCWALFLS | LCCYLRLVSA | EGDPIPEELY | EMLSDHSIRS | FDDLQRLLHG | DPGEEDGAEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLNMTRSHSG | GELESLARGR | RSLGSLTIAE | PAMIAECKTR | TEVFEISRRL | IDRTNANFLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WPPCVEVQRC | SGCCNNRNVQ | CRPTQVQLRP | VQVRKIEIVR | KKPIFKKATV | TLEDHLACKC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETVAAARPVT | RSPGGSQEQR | AKTPQTRVTI | RTVRVRRPPK | GKHRKFKHTH | DKTALKETLG |
| A |