Q13103
Gene name |
SPP2 (SPP24) |
Protein name |
Secreted phosphoprotein 24 |
Names |
Spp-24, Secreted phosphoprotein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6694 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q13103
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13103-F1 | Predicted | AlphaFoldDB |
219 variants for Q13103
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200097563 CA2183148 RCV002563918 RCV001238608 |
110 | Y>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2183248 rs776382313 RCV002541897 RCV001299612 |
179 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2183280 rs201364588 RCV002567889 RCV001233829 |
201 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs754698489 CA2183037 |
2 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297296795 CA351098107 |
2 | I>V | No |
ClinGen TOPMed |
|
|
CA351098140 rs907542594 |
4 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs961916943 CA67654020 |
6 | E>G | No |
ClinGen gnomAD |
|
|
CA351098208 rs1574818367 |
7 | K>N | No |
ClinGen Ensembl |
|
|
rs764495146 CA2183038 |
7 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764495146 CA351098203 |
7 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA351098239 CA2183039 rs751978185 |
8 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs145529777 RCV001247023 CA2183040 |
9 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA67654030 rs145529777 |
9 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756261230 CA2183043 COSM1227423 |
10 | M>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384808982 CA351098332 |
11 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351098292 rs1173127457 |
11 | M>K | No |
ClinGen TOPMed |
|
|
CA67654040 rs969449013 |
12 | M>T | No |
ClinGen TOPMed |
|
|
rs1181473550 CA351098395 |
14 | I>M | No |
ClinGen Ensembl |
|
|
rs374261845 CA351098443 |
16 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490945405 CA351098461 |
17 | M>T | No |
ClinGen TOPMed |
|
|
rs142286393 CA2183045 |
18 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768883172 CA2183046 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774124885 CA2183047 |
19 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351098551 rs1410057925 |
20 | L>I | No |
ClinGen gnomAD |
|
|
CA2183048 rs747992652 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs963615754 COSM442531 CA67654060 |
22 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 22 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369178666 CA2183049 |
22 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351098699 rs1209574905 |
25 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV001247444 rs1693476656 |
25 | W>CP | No |
ClinVar dbSNP |
|
|
rs760561082 CA2183051 |
27 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351099371 rs1377115981 |
32 | V>A | No |
ClinGen gnomAD |
|
|
CA351099382 rs1395662793 |
33 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs766849944 CA2183078 |
34 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2183077 rs761181418 |
34 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs115788299 CA2183081 |
36 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755087069 CA2183080 COSM233487 |
36 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755087069 CA351099452 |
36 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67654204 rs1001689642 |
37 | P>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 37 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2183083 rs758562666 RCV001317355 |
38 | S>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2183084 RCV000962958 VAR_025698 rs34347825 |
38 | S>F | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2183086 rs770888198 |
39 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV001319726 rs200706917 CA2183087 |
40 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1176491507 CA351099504 |
40 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs768201739 CA2183092 |
42 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2183090 rs114861790 RCV001041593 |
42 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2183091 rs762613674 |
42 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381567555 CA351099666 |
46 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351099713 rs1444875439 |
48 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351099709 rs1444875439 |
48 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2183095 rs773609583 |
51 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA67654232 rs760990067 |
52 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2183096 rs760990067 |
52 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs144683165 RCV001233878 CA2183097 |
53 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2183098 rs551029738 |
54 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1574818825 CA351099857 |
55 | S>A | No |
ClinGen Ensembl |
|
|
rs1312138678 CA351099863 |
55 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961742512 CA67654239 |
56 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143082886 CA2183099 |
58 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2183105 rs757044100 |
62 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM247574 CA67654263 rs757044100 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200722650 CA2183104 |
62 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2183108 rs536799951 |
66 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351100098 rs1387657136 |
66 | S>R | No |
ClinGen TOPMed |
|
|
CA351100155 rs1160051287 |
68 | L>S | No |
ClinGen TOPMed |
|
|
CA351100170 rs1417434951 |
69 | K>* | No |
ClinGen TOPMed |
|
|
CA2183124 rs767366023 |
71 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767366023 CA67658148 |
71 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs757524498 CA2183123 |
71 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA351101621 rs1339105286 |
72 | E>K | No |
ClinGen gnomAD |
|
|
rs750252210 COSM574321 CA2183125 |
73 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA67658150 rs962560054 |
73 | V>G | No |
ClinGen Ensembl |
|
|
CA2183126 rs756119652 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780185360 CA2183127 |
76 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs763033241 CA2183129 |
77 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2183128 rs371778962 |
77 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300520957 CA351101702 |
78 | N>D | No |
ClinGen TOPMed |
|
|
CA67658162 rs967652923 |
80 | V>F | No |
ClinGen TOPMed |
|
|
CA67658165 CA67658173 rs779147902 |
81 | M>I | No |
ClinGen Ensembl |
|
|
CA2183130 rs778504483 |
81 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs556366714 CA2183131 |
82 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351101802 rs1270887663 |
83 | L>S | No |
ClinGen gnomAD |
|
|
rs771714862 CA2183132 |
87 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746289744 CA351101862 |
88 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746289744 COSM1291464 CA2183134 |
88 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2183133 rs149868175 |
88 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2183135 rs770265381 |
89 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA67658189 rs983853757 |
91 | T>R | No |
ClinGen Ensembl |
|
|
rs764033769 CA2183138 |
92 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA2183137 rs763549452 RCV001351403 |
92 | C>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1167352947 CA351101897 |
92 | C>Y | No |
ClinGen gnomAD |
|
|
rs1297018807 CA351101915 RCV001308291 |
93 | R>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA351101908 rs1399954776 |
93 | R>W | No |
ClinGen gnomAD |
|
|
rs774506787 CA2183139 |
95 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282127558 CA351101963 |
97 | G>A | No |
ClinGen gnomAD |
|
|
CA2183142 rs750233905 |
98 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756010192 CA2183143 |
99 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293713918 CA351101982 |
99 | D>H | No |
ClinGen gnomAD |
|
|
CA2183145 rs74975266 RCV001324735 |
101 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs754953529 CA2183146 |
101 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs930417399 CA67658231 |
102 | T>A | No |
ClinGen TOPMed |
|
|
CA67658234 rs944945403 |
104 | A>V | No |
ClinGen Ensembl |
|
|
CA351102115 rs1185521611 |
108 | D>G | No |
ClinGen gnomAD |
|
|
CA351102110 rs1397671213 |
108 | D>Y | No |
ClinGen Ensembl |
|
|
CA67658244 rs886302747 |
110 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351102159 rs886302747 |
110 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1340500662 CA351102178 |
111 | V>A | No |
ClinGen TOPMed |
|
|
CA67658886 rs952488913 |
112 | S>F | No |
ClinGen Ensembl |
|
|
CA2183168 rs751165065 |
112 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2183170 rs780218526 |
113 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 114 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213169901 CA351103039 |
115 | V>L | No |
ClinGen TOPMed |
|
|
rs1256332961 CA351103051 |
116 | C>R | No |
ClinGen gnomAD |
|
|
CA2183172 rs769033625 |
117 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199625002 CA351103105 |
119 | T>I | No |
ClinGen gnomAD |
|
|
rs141839502 RCV001048183 CA2183174 |
120 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351103154 rs1272410394 |
123 | S>P | No |
ClinGen TOPMed |
|
|
CA67658918 rs1015197391 |
125 | Q>* | No |
ClinGen gnomAD |
|
|
rs1015197391 CA351103178 |
125 | Q>E | No |
ClinGen gnomAD |
|
|
rs772225535 CA2183176 |
125 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs199501024 CA2183177 |
127 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001046913 CA2183180 rs202217477 |
130 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2183181 rs759424087 |
132 | A>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001234407 rs575965941 CA2183182 |
133 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2183183 COSM1732555 rs376262894 |
133 | R>H | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2183184 RCV001314500 rs376262894 |
133 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2183185 rs150395122 |
135 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351103320 rs200554838 |
136 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs200554838 CA67658937 RCV001323887 |
136 | W>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA67658939 rs768729113 |
137 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868200925 CA351103330 |
138 | S>F | No |
ClinGen gnomAD |
|
|
rs868200925 CA67658955 |
138 | S>Y | No |
ClinGen gnomAD |
|
|
CA351103334 rs1559173877 |
139 | S>A | No |
ClinGen Ensembl |
|
|
rs756858234 CA2183187 RCV001346223 |
140 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs369042998 CA67658978 |
142 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs1490992575 CA351103370 |
143 | S>C | No |
ClinGen gnomAD |
|
|
rs138191546 CA351103387 |
144 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755325619 CA2183190 |
144 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001299295 CA351103410 rs1477272388 |
146 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs748604950 CA351103423 |
146 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777994744 CA2183194 |
147 | E>A | No |
ClinGen ExAC |
|
|
CA351103425 rs541421017 |
147 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2183193 rs541421017 |
147 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351104594 rs1318053482 |
149 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1215833498 CA351104618 |
150 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139040392 CA2183216 |
151 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2183217 rs769915377 |
152 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1446167298 CA351104745 |
154 | M>I | No |
ClinGen gnomAD |
|
|
rs775263458 CA2183218 |
154 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351104737 rs1243526450 |
154 | M>T | No |
ClinGen gnomAD |
|
|
rs775263458 CA351104730 |
154 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2183220 rs768562382 |
156 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs575643795 CA67661727 |
158 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs1490808213 CA351104826 |
160 | W>R | No |
ClinGen gnomAD |
|
|
RCV001305299 rs375850205 CA2183221 |
161 | R>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
RCV001306899 rs1559176718 |
162 | N>missing | No |
ClinVar dbSNP |
|
|
CA351104865 rs1161349909 |
162 | N>H | No |
ClinGen gnomAD |
|
|
RCV001337589 rs1376035537 CA351104882 |
163 | N>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA351104894 rs1465725762 |
163 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141694000 CA2183223 |
164 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM384396 rs1408593199 CA351104916 |
165 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA351104948 rs1168309743 |
166 | F>L | No |
ClinGen TOPMed |
|
|
CA351105107 rs1380880592 |
168 | L>V | No |
ClinGen TOPMed |
|
|
CA2183243 rs771966866 |
171 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351105188 rs1237354656 |
172 | E>D | No |
ClinGen TOPMed |
|
|
CA2183245 rs147173896 RCV001044827 |
172 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2183246 rs770675713 |
174 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1559177037 CA351105265 |
177 | Q>* | No |
ClinGen Ensembl |
|
|
RCV001342778 rs758307599 |
177 | Q>H | No |
ClinVar dbSNP |
|
| TCGA novel | 177 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351105289 rs1163155420 |
180 | D>A | No |
ClinGen gnomAD |
|
|
CA351105294 rs375462993 |
181 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2183250 COSM574319 RCV001344392 rs764495552 |
181 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001228929 CA2183249 rs375462993 COSM1018208 |
181 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA67662142 rs867276641 |
183 | L>F | No |
ClinGen Ensembl |
|
|
rs777609841 CA2183264 |
184 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV001233012 rs191672392 CA2183265 |
185 | I>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1262221943 CA351105947 |
186 | M>I | No |
ClinGen gnomAD |
|
|
rs776285212 CA2183267 |
186 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351105937 rs1206652136 |
186 | M>V | No |
ClinGen gnomAD |
|
|
CA351105952 rs1246612600 |
187 | R>G | No |
ClinGen gnomAD |
|
|
RCV001242951 rs1693900246 |
187 | R>T | No |
ClinVar dbSNP |
|
|
rs1317007899 CA351106000 |
189 | V>A | No |
ClinGen gnomAD |
|
|
CA67663416 rs993016427 |
189 | V>I | No |
ClinGen gnomAD |
|
|
CA351105995 rs993016427 |
189 | V>L | No |
ClinGen gnomAD |
|
|
CA2183268 rs759206824 |
191 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA67663433 RCV001302049 rs915089963 |
192 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1285101988 CA351106049 |
192 | P>S | No |
ClinGen gnomAD |
|
|
CA351106096 rs1371359951 |
194 | N>K | No |
ClinGen TOPMed |
|
|
rs769627245 CA2183269 |
194 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1294774034 CA351106101 |
195 | R>* | No |
ClinGen TOPMed |
|
|
rs774770808 CA351106147 |
196 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750842592 CA2183274 CA67663442 RCV001066315 |
197 | Y>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2183273 rs762122267 |
197 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs762122267 CA2183272 |
197 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs761197403 CA2183275 |
198 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2183276 rs766392250 |
199 | N>K | No |
ClinGen ExAC |
|
|
CA67663457 rs576448634 |
200 | H>Y | No |
ClinGen Ensembl |
|
|
CA2183278 rs201489523 |
201 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201364588 CA351106231 |
201 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201364588 CA2183279 RCV001322961 |
201 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2183277 rs201489523 |
201 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2183283 rs746877413 |
204 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777655279 CA2183282 COSM1018209 |
204 | A>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA67663476 rs746877413 |
204 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757273882 CA2183284 |
205 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338478634 CA351106292 |
206 | I>V | No |
ClinGen gnomAD |
|
|
CA351106301 rs1374538194 |
207 | N>H | No |
ClinGen gnomAD |
|
|
CA351106330 rs1207190218 |
209 | D>G | No |
ClinGen TOPMed |
No associated diseases with Q13103
No regional properties for Q13103
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q13103 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| platelet dense granule lumen | The volume enclosed by the membrane of the platelet dense granule. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| bone remodeling | The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. |
| skeletal system development | The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K1I3 | Spp2 | Secreted phosphoprotein 24 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MISRMEKMTM | MMKILIMFAL | GMNYWSCSGF | PVYDYDPSSL | RDALSASVVK | VNSQSLSPYL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FRAFRSSLKR | VEVLDENNLV | MNLEFSIRET | TCRKDSGEDP | ATCAFQRDYY | VSTAVCRSTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVSAQQVQGV | HARCSWSSST | SESYSSEEMI | FGDMLGSHKW | RNNYLFGLIS | DESISEQFYD |
| 190 | 200 | 210 | |||
| RSLGIMRRVL | PPGNRRYPNH | RHRARINTDF | E |