O75829
PR
Gene name |
CNMD |
Protein name |
Leukocyte cell-derived chemotaxin 1 |
Names |
Chondromodulin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11061 |
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 O75829
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75829-F1 | Predicted | AlphaFoldDB |
304 variants for O75829
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6994230 rs762475168 |
2 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6994228 rs376320536 |
5 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332123245 CA388053929 |
6 | D>G | No |
ClinGen TOPMed |
|
|
rs745746771 CA6994226 |
6 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994225 rs559078245 |
8 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147042699 CA250121472 |
9 | P>S | No |
ClinGen ESP |
|
|
CA250121459 rs1042388285 |
10 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388053891 rs1485540552 |
12 | L>P | No |
ClinGen TOPMed |
|
|
CA388053894 rs1202645687 |
12 | L>V | No |
ClinGen gnomAD |
|
|
CA388053888 rs778030442 |
13 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994222 rs778030442 |
13 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994223 rs747232600 CA388053889 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758642745 CA6994221 |
14 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405328298 CA388053877 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs752832077 CA6994220 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1422272120 CA388053875 |
16 | D>H | No |
ClinGen TOPMed |
|
|
rs1422272120 CA388053876 |
16 | D>N | No |
ClinGen TOPMed |
|
|
rs1247574287 CA388053859 |
18 | V>M | No |
ClinGen Ensembl |
|
|
CA388053854 rs1167436547 |
19 | E>K | No |
ClinGen TOPMed |
|
|
rs754396086 CA6994217 |
21 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250121448 rs754396086 |
21 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994215 rs761079522 |
24 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA388053815 rs370653677 |
24 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6994214 rs370653677 |
24 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs768157613 | 24 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761079522 CA388053817 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs768157613 | 25 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994195 rs528591921 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6994194 rs780635643 |
28 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388053779 rs780635643 |
28 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994191 rs767811151 |
29 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6994190 rs758103471 |
30 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs961934357 CA250121001 |
31 | V>E | No |
ClinGen Ensembl |
|
|
rs759020746 CA6994187 |
33 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764762379 CA6994188 |
33 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388053733 rs1294616302 |
36 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs889692189 CA250120935 |
41 | K>E | No |
ClinGen TOPMed |
|
|
rs1594293986 CA388053698 |
42 | V>G | No |
ClinGen Ensembl |
|
|
CA250120926 rs1049557624 |
43 | G>E | No |
ClinGen TOPMed |
|
|
rs867051926 CA250120928 |
43 | G>R | No |
ClinGen gnomAD |
|
|
CA250120912 rs1016119501 |
44 | A>D | No |
ClinGen Ensembl |
|
|
CA388053692 rs573477095 |
44 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6994183 rs573477095 |
44 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236102174 CA388053683 |
46 | V>I | No |
ClinGen TOPMed |
|
|
rs771992261 CA6994181 |
47 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6994180 rs748425057 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388053628 rs1450645921 |
55 | L>P | No |
ClinGen gnomAD |
|
|
CA6994178 rs768952260 |
56 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6994177 rs749418424 |
57 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA388053609 rs1314631955 |
58 | A>V | No |
ClinGen gnomAD |
|
|
CA6994176 rs779929918 |
59 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA250120854 rs779929918 |
59 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6994175 rs756656209 |
60 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388053603 rs1594293918 |
60 | G>R | No |
ClinGen Ensembl |
|
|
rs781602871 CA6994173 |
61 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746345950 CA6994174 |
61 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA388053593 rs1290951447 |
62 | F>L | No |
ClinGen gnomAD |
|
|
CA388053583 rs1332073308 |
63 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs757582200 CA6994172 |
63 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388053586 rs757582200 |
63 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994170 rs764889207 |
65 | W>* | No |
ClinGen ExAC |
|
|
rs752392381 CA6994171 |
65 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754544651 CA6994169 |
66 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765796100 CA6994167 |
69 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1230456331 CA388053523 |
71 | H>L | No |
ClinGen TOPMed |
|
|
rs199719639 CA6994164 |
71 | H>Q | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 73 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250154750 rs150985729 |
73 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA388057852 rs1406644936 |
74 | N>D | No |
ClinGen gnomAD |
|
|
CA250154749 rs879928961 |
75 | V>I | No |
ClinGen TOPMed |
|
|
rs772293996 CA6994131 |
76 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388057813 rs1159907718 |
79 | M>I | No |
ClinGen TOPMed |
|
|
rs1384037512 CA388057805 |
80 | S>N | No |
ClinGen gnomAD |
|
|
CA388057794 rs1394493950 |
82 | N>D | No |
ClinGen TOPMed |
|
|
CA250154705 rs949444454 |
82 | N>S | No |
ClinGen gnomAD |
|
|
rs917947496 CA250154697 |
84 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs972914928 CA250154688 |
84 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772962330 COSM551894 CA6994128 |
86 | Q>* | lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1025132438 CA250154680 |
87 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA250154672 rs139223022 |
90 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6994125 rs376436748 |
92 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244274672 CA388057722 |
92 | I>T | No |
ClinGen gnomAD |
|
|
CA388057721 rs1445604520 |
93 | D>N | No |
ClinGen gnomAD |
|
|
rs1236071503 CA388057713 |
94 | A>T | No |
ClinGen TOPMed |
|
|
CA250154664 rs959717222 |
96 | N>K | No |
ClinGen TOPMed |
|
|
rs1380585171 CA388057698 |
96 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199722321 CA250154660 |
100 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 101 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994122 rs763985987 |
103 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs111536319 CA250154658 |
103 | M>V | No |
ClinGen Ensembl |
|
|
rs1203275405 CA388057640 |
104 | G>A | No |
ClinGen gnomAD |
|
|
rs1203275405 CA388057639 |
104 | G>E | No |
ClinGen gnomAD |
|
|
rs758102185 CA6994121 |
105 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA388057627 rs1325807136 |
106 | G>E | No |
ClinGen gnomAD |
|
|
CA388057615 rs752487864 |
108 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs752487864 CA6994120 |
108 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA388057602 rs1421292777 |
110 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6994119 rs765408141 |
111 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369492140 CA250154649 |
111 | I>T | No |
ClinGen ESP |
|
|
rs1033686879 CA388057592 |
112 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1033686879 CA250154647 |
112 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6994118 rs759686804 |
113 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776703620 CA6994117 |
114 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994116 VAR_048719 rs3742298 |
116 | F>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1452603185 CA388057554 |
117 | Q>H | No |
ClinGen TOPMed |
|
|
rs761211824 CA6994115 |
118 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs763428455 CA6994071 |
124 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6994070 rs775957396 |
124 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388057498 rs775957396 |
124 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770710744 CA6994069 |
125 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388057483 rs1303651674 |
126 | A>V | No |
ClinGen gnomAD |
|
|
CA250149790 rs881482 |
127 | G>A | No |
ClinGen gnomAD |
|
|
CA388057476 rs881482 |
127 | G>E | No |
ClinGen gnomAD |
|
|
CA6994068 rs760315134 |
128 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA388057445 rs1485484786 |
130 | K>N | No |
ClinGen TOPMed |
|
|
CA6994067 rs140734619 |
130 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771582720 CA6994066 |
130 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA388057442 rs1404531190 |
131 | C>S | No |
ClinGen gnomAD |
|
|
rs1336715278 CA388057426 |
132 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994065 rs748086981 |
134 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA388057389 rs1361297985 |
135 | A>E | No |
ClinGen gnomAD |
|
|
rs1361297985 CA388057386 |
135 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994063 rs768541960 |
137 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6994062 rs148619275 |
138 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388057348 rs1179901463 |
139 | A>S | No |
ClinGen gnomAD |
|
|
rs376055650 CA6994060 |
139 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6994059 rs372845189 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201015797 CA388057338 COSM3813997 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA250149696 rs1004626807 |
143 | E>Q | No |
ClinGen Ensembl |
|
|
CA250149691 rs866501024 |
144 | V>A | No |
ClinGen gnomAD |
|
|
CA388057299 rs1484094316 |
144 | V>L | No |
ClinGen gnomAD |
|
|
COSM432519 rs1353170416 CA388057283 |
146 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs568321711 CA388057273 |
147 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568321711 CA6994057 |
147 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6994056 rs751540122 |
148 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994055 rs764726191 |
149 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250149660 rs764726191 |
149 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308143424 CA388057246 |
150 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 151 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6994054 rs200255794 |
156 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388056281 rs1459051689 |
158 | G>D | No |
ClinGen gnomAD |
|
|
rs1466063982 CA388056286 |
158 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388056256 rs1478007949 |
160 | I>M | No |
ClinGen gnomAD |
|
|
rs1265005699 CA388056252 CA388056255 |
161 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6994041 rs746121576 |
161 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA388056253 rs1265005699 |
161 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388056239 rs1594278619 |
162 | P>A | No |
ClinGen Ensembl |
|
|
rs925169199 CA250144138 |
162 | P>L | No |
ClinGen Ensembl |
|
|
rs757378127 CA6994039 |
164 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA250144129 rs866620960 |
167 | E>K | No |
ClinGen Ensembl |
|
|
rs376449381 CA6994037 |
169 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199566973 CA250144122 |
170 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388056129 rs1346404605 |
171 | I>T | No |
ClinGen TOPMed |
|
|
CA388056121 rs1250108780 |
172 | W>G | No |
ClinGen gnomAD |
|
|
CA6994035 rs373490649 |
174 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1426574532 CA388056089 |
175 | V>A | No |
ClinGen gnomAD |
|
|
CA6994034 rs7330220 VAR_024413 |
175 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755394845 CA6994033 |
176 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388056080 rs1566220436 |
176 | D>V | No |
ClinGen Ensembl |
|
|
CA388056053 rs1222082530 |
178 | P>L | No |
ClinGen gnomAD |
|
|
CA388056040 rs1323869471 |
180 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6994032 rs754113180 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA388055999 rs1466029382 |
183 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA388055932 rs1377273917 |
189 | V>M | No |
ClinGen gnomAD |
|
|
CA6994026 rs762920734 |
192 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs150210923 CA250144044 |
193 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388055876 rs745702710 |
194 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6994023 rs745702710 |
194 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366671298 CA388055871 |
194 | G>V | No |
ClinGen TOPMed |
|
|
COSM1662573 CA250144036 rs985970015 |
195 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs955061745 CA250144032 |
196 | L>H | No |
ClinGen Ensembl |
|
|
rs776219123 CA6994022 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA250144031 rs868055725 |
198 | I>T | No |
ClinGen Ensembl |
|
|
CA388055825 rs1594278435 |
199 | F>Y | No |
ClinGen Ensembl |
|
|
CA388055813 rs1275043128 |
200 | W>G | No |
ClinGen gnomAD |
|
|
CA6994021 rs771196703 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1025305838 CA388055759 |
205 | Y>C | No |
ClinGen Ensembl |
|
|
rs1025305838 CA250144014 |
205 | Y>S | No |
ClinGen Ensembl |
|
|
CA6994019 rs369730829 |
206 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358858520 CA388055221 |
209 | I>T | No |
ClinGen gnomAD |
|
|
rs748243100 CA6993997 |
210 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA388055199 rs1420349136 |
211 | R>M | No |
ClinGen gnomAD |
|
|
CA388055176 rs1382205084 |
213 | R>K | No |
ClinGen gnomAD |
|
|
CA388055165 rs1472721477 |
214 | R>K | No |
ClinGen gnomAD |
|
|
CA6993996 rs778802122 |
215 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769267887 CA6993995 |
217 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs150668240 CA388055125 |
218 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895234659 CA250141731 COSM1213251 |
220 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA250141719 rs1035043953 |
221 | V>A | No |
ClinGen gnomAD |
|
|
rs756452007 CA6993992 |
223 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM696397 CA6993991 rs750734938 |
224 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs902507624 CA250141703 |
225 | T>I | No |
ClinGen Ensembl |
|
|
rs777432299 CA6993990 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757974668 CA6993989 |
229 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993988 rs752261250 |
229 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764639415 CA6993987 |
231 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6993986 rs759585521 |
232 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6993984 rs766244515 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993985 rs537073101 |
233 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA250141646 rs1041649815 |
234 | S>C | No |
ClinGen Ensembl |
|
|
rs1165561513 CA388054947 |
235 | N>K | No |
ClinGen gnomAD |
|
|
rs945948520 CA250141637 |
236 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 237 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250141613 rs773076729 |
238 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773076729 CA6993982 |
238 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388054909 rs1219589775 |
240 | R>T | No |
ClinGen TOPMed |
|
|
rs772436932 CA6993981 |
241 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138407146 CA6993979 |
243 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388054831 rs1276830285 |
247 | P>L | No |
ClinGen TOPMed |
|
|
rs768592016 CA6993978 |
248 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs975818759 CA250141556 |
249 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA250141549 rs944388950 |
251 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 253 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342607666 CA388054761 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
CA388054722 rs1435816936 |
257 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780451344 CA6993976 |
259 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929729817 CA250141532 |
259 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6993975 rs190551394 |
260 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464477382 CA388054693 |
260 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6993973 rs781473942 |
263 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993974 rs746234567 |
263 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388054423 rs1566215083 |
266 | E>K | No |
ClinGen Ensembl |
|
|
rs748761787 CA6993949 |
267 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs779700059 CA6993948 |
268 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388054402 rs1594272874 |
269 | S>G | No |
ClinGen Ensembl |
|
|
CA388054394 rs1270791240 |
270 | M>L | No |
ClinGen TOPMed |
|
|
CA6993946 rs750358389 |
273 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757029493 CA6993944 |
274 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6993945 rs767470688 |
274 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490669579 CA388054357 |
275 | R>S | No |
ClinGen TOPMed |
|
|
rs751332937 CA6993943 |
276 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs147068950 CA6993941 |
278 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1156509353 CA388054336 |
279 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765293200 CA6993939 |
280 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765293200 COSM88589 CA388054325 |
280 | G>E | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765293200 CA6993940 |
280 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993937 rs141537487 |
281 | I>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6993936 rs771377682 |
281 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA250137965 rs1050433922 |
284 | I>R | No |
ClinGen Ensembl |
|
|
CA388054303 rs1164548307 |
284 | I>V | No |
ClinGen TOPMed |
|
|
rs747339310 CA6993935 |
285 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370148794 CA250137957 |
286 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs1259851553 CA388054287 |
286 | C>Y | No |
ClinGen gnomAD |
|
|
rs773568589 CA6993934 |
287 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6993932 rs748967137 |
288 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1677684 rs200448360 CA6993933 |
288 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs558432951 CA250137935 |
289 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA388054269 rs1312706301 |
289 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6993931 rs779753535 |
291 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993930 rs745325928 |
291 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993929 rs745325928 |
291 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250137926 rs921280908 |
292 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6993928 rs143162260 |
294 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6993927 rs757147882 |
295 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993926 rs751321297 |
296 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763934642 CA6993925 |
296 | I>N | No |
ClinGen ExAC |
|
|
rs267603850 CA388054208 |
298 | E>D | No |
ClinGen Ensembl |
|
|
CA250137894 rs373527320 |
299 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6993923 rs373527320 |
299 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765348135 CA6993921 |
300 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6993920 rs569601718 |
301 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388054189 rs1488046150 |
302 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388054190 rs1488046150 |
302 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388054193 rs1192680492 |
302 | G>R | No |
ClinGen gnomAD |
|
|
rs1264248860 CA388054186 |
303 | Y>H | No |
ClinGen gnomAD |
|
|
rs1594272625 CA388054174 |
304 | Y>S | No |
ClinGen Ensembl |
|
|
rs766810332 CA6993917 |
307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6993915 rs201037740 |
308 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388054148 rs1487052096 |
308 | Y>C | No |
ClinGen TOPMed |
|
|
rs961273691 CA250137878 |
308 | Y>H | No |
ClinGen Ensembl |
|
|
CA388054145 rs1255023310 |
309 | N>H | No |
ClinGen TOPMed |
|
|
rs772453490 CA6993914 |
310 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA698966740 rs1440358877 |
310 | Y>* | No |
ClinGen TOPMed |
|
|
rs762565808 CA6993913 |
312 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775307491 CA6993912 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM948109 rs1218414873 CA388054105 |
314 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6993911 rs149112371 |
315 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6993909 rs780788020 |
317 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA388054084 rs1594272531 |
318 | R>K | No |
ClinGen Ensembl |
|
|
CA250137853 rs959966857 |
318 | R>S | No |
ClinGen Ensembl |
|
|
CA6993908 rs770828040 |
320 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777466607 CA6993906 |
321 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs746958626 CA6993907 |
321 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035986975 CA250137832 |
322 | P>S | No |
ClinGen Ensembl |
|
|
CA6993905 rs758188708 |
323 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388054037 rs1394539044 |
325 | W>* | No |
ClinGen TOPMed |
|
|
CA6993902 rs779135748 |
329 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753976938 CA6993900 |
329 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753976938 CA6993901 |
329 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250137785 rs201954506 |
332 | G>D | No |
ClinGen Ensembl |
|
|
CA388053975 rs1442519916 |
334 | V>E | No |
ClinGen gnomAD |
No associated diseases with O75829
1 regional properties for O75829
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BRICHOS domain | 104 - 201 | IPR007084 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cartilage development | The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| negative regulation of endothelial cell proliferation | Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. |
| proteoglycan metabolic process | The chemical reactions and pathways involving proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans. |
| 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). |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17404 | CNMD | Leukocyte cell-derived chemotaxin 1 | Bos taurus (Bovine) | PR |
| Q9PUU8 | CNMD | Leukocyte cell-derived chemotaxin 1 | Gallus gallus (Chicken) | PR |
| Q9Z1F6 | Cnmd | Leukocyte cell-derived chemotaxin 1 | Mus musculus (Mouse) | PR |
| P58239 | cnmd | Leukocyte cell-derived chemotaxin 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTENSDKVPI | ALVGPDDVEF | CSPPAYATLT | VKPSSPARLL | KVGAVVLISG | AVLLLFGAIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFYFWKGSDS | HIYNVHYTMS | INGKLQDGSM | EIDAGNNLET | FKMGSGAEEA | IAVNDFQNGI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TGIRFAGGEK | CYIKAQVKAR | IPEVGAVTKQ | SISSKLEGKI | MPVKYEENSL | IWVAVDQPVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DNSFLSSKVL | ELCGDLPIFW | LKPTYPKEIQ | RERREVVRKI | VPTTTKRPHS | GPRSNPGAGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNNETRPSVQ | EDSQAFNPDN | PYHQQEGESM | TFDPRLDHEG | ICCIECRRSY | THCQKICEPL |
| 310 | 320 | 330 | |||
| GGYYPWPYNY | QGCRSACRVI | MPCSWWVARI | LGMV |