Q00610
PR
Gene name |
CLTC |
Protein name |
Clathrin heavy chain 1 |
Names |
Activation B7-1 antigen, B7, Clathrin heavy chain on chromosome 17, CLH-17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1213 |
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
9 structures for Q00610
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2XZG | X-ray | 170 A | A | 1-364 | PDB |
| 4G55 | X-ray | 169 A | A | 1-364 | PDB |
| 6E4L | X-ray | 160 A | A | 1-364 | PDB |
| 6QNN | X-ray | 203 A | A | 1-364 | PDB |
| 6QNP | X-ray | 270 A | A/B/C/D | 1-364 | PDB |
| 7BN1 | X-ray | 197 A | A/B | 1-364 | PDB |
| 7BN2 | X-ray | 197 A | AAA/BBB | 1-364 | PDB |
| 7ZX4 | X-ray | 208 A | A/B | 1-364 | PDB |
| AF-Q00610-F1 | Predicted | AlphaFoldDB |
532 variants for Q00610
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400418951 rs1598211790 RCV001008006 RCV001262639 |
63 | R>* | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768460001 RCV001265758 CA8681056 |
157 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555604778 RCV000578211 |
326 | S>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330546 rs1598223846 |
394 | T>A | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs954500638 RCV001858468 CA292145281 RCV000850401 |
399 | R>C | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002561069 RCV001199342 rs2032692372 |
531 | Q>L | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_080721 | 554 | M>del | MRD56; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs2032727657 RCV001266768 |
587 | M>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266855 rs2032737194 |
615 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2032737696 RCV001264756 |
625 | R>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264734 rs2032738350 |
639 | A>missing | Noonan syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400413743 rs1555605688 RCV000624429 |
735 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000996591 RCV001268959 rs1598233581 |
776 | I>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265766 rs2032904710 |
778 | C>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400415888 rs1555606635 VAR_080722 |
890 | P>L | Variant assessed as Somatic; impact. MRD56 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001008471 RCV000190705 rs797044884 RCV000578213 |
913 | D>missing | Intellectual disability, autosomal dominant 56 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2033035924 RCV001250419 |
943 | L>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000624624 RCV001796143 rs1376342815 CA16040305 |
1046 | R>H | Variant assessed as Somatic; 0.0 impact. Intellectual disability, autosomal dominant 56 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1555607159 RCV000578218 VAR_080723 CA400417094 |
1047 | L>P | Intellectual disability, autosomal dominant 56 MRD56; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_080724 | 1108 | W>R | MRD56; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000989968 CA400417683 rs1443421262 |
1129 | I>S | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_080725 | 1199 | Q>del | MRD56 [UniProt] | Yes | UniProt |
| VAR_080726 | 1207 | D>del | MRD56; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1555607375 RCV000622694 CA400418882 |
1256 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2033126192 RCV001260686 |
1456 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567971357 RCV000678270 |
1463 | V>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400421587 rs1555607504 RCV000624053 |
1474 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000578217 rs1555607621 |
1526 | E>missing | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330547 CA400422424 rs766317685 |
1534 | Y>* | Intellectual disability, autosomal dominant 56 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000578210 rs1555607682 RCV001265960 CA400422588 |
1555 | Q>* | Intellectual disability, autosomal dominant 56 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080727 | 1555 | Q>del | MRD56 [UniProt] | Yes | UniProt |
| VAR_080728 | 1556 | W>del | MRD56 [UniProt] | Yes | UniProt |
|
rs1209338205 CA400416065 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA292118143 rs934104891 |
7 | I>V | No |
ClinGen TOPMed |
|
|
rs1236458972 CA400416143 |
8 | R>S | No |
ClinGen TOPMed |
|
|
rs1299312052 CA400416172 |
10 | Q>E | No |
ClinGen TOPMed |
|
|
CA292132771 rs934639246 |
15 | L>V | No |
ClinGen Ensembl |
|
|
CA8680977 rs373161605 |
18 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292132782 rs1023884085 |
21 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775286142 CA292132806 |
23 | A>V | No |
ClinGen Ensembl |
|
|
rs757191984 CA8680980 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745640220 CA8680982 |
32 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs780290587 CA8680984 |
36 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1396157861 CA400418673 |
38 | I>V | No |
ClinGen gnomAD |
|
|
rs747158962 CA8680985 |
40 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs566450701 CA400418791 |
47 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA292132890 rs764106909 |
48 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 51 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374052427 CA8680989 |
53 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1329078742 CA400418844 |
53 | I>V | No |
ClinGen gnomAD |
|
|
CA8680990 rs201677846 |
55 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767119871 CA8680992 |
59 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149896066 CA8680993 |
61 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400418953 rs1481692558 |
63 | R>Q | No |
ClinGen gnomAD |
|
|
CA400418980 rs1409580657 |
66 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 70 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778967128 CA8680998 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA400419385 rs1440640735 |
85 | G>A | No |
ClinGen gnomAD |
|
|
rs1186515309 CA400419492 |
93 | I>T | No |
ClinGen gnomAD |
|
|
CA400419583 rs1161469724 |
99 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681047 rs188309190 |
107 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400419730 rs1186340281 |
109 | T>N | No |
ClinGen gnomAD |
|
|
CA400419816 rs1174980992 |
114 | I>M | No |
ClinGen gnomAD |
|
|
CA400419806 rs1454388320 |
114 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8681049 COSM1522162 rs748270835 |
115 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756221208 CA8681050 |
118 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA400419927 rs1347364344 |
123 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA400420048 rs1598213983 |
132 | M>R | No |
ClinGen Ensembl |
|
|
rs1598213990 CA400420100 |
136 | S>A | No |
ClinGen Ensembl |
|
|
rs1297225527 CA400420103 |
136 | S>Y | No |
ClinGen gnomAD |
|
|
rs771335252 CA8681053 |
138 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746192458 CA8681055 |
139 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555603325 CA400420206 |
144 | R>H | No |
ClinGen Ensembl |
|
|
rs1567943143 CA400420211 |
145 | H>Y | No |
ClinGen Ensembl |
|
|
CA400420272 rs1598214018 |
149 | A>V | No |
ClinGen Ensembl |
|
|
CA292135101 rs888398984 |
151 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 154 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005328997 CA292135129 |
157 | R>P | No |
ClinGen TOPMed |
|
|
CA400420392 rs1316004374 |
158 | T>K | No |
ClinGen TOPMed |
|
|
CA400420421 rs1240494418 |
160 | A>E | No |
ClinGen gnomAD |
|
|
CA400420449 rs1206434603 |
162 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681077 rs367840133 |
186 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8681078 rs769328089 |
188 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768592825 CA292135655 |
193 | P>T | No |
ClinGen Ensembl |
|
|
CA400420967 rs1463193729 |
197 | H>N | No |
ClinGen gnomAD |
|
|
CA400420971 rs1463193729 |
197 | H>Y | No |
ClinGen gnomAD |
|
|
CA400421013 rs1405609591 |
200 | S>N | No |
ClinGen gnomAD |
|
|
rs762347401 CA8681080 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1352205850 CA400421858 |
214 | T>M | No |
ClinGen gnomAD |
|
|
CA8681085 rs752425271 |
222 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs752425271 CA400421960 |
222 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200649233 CA8681086 |
223 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs7222491 CA292137298 |
228 | L>V | No |
ClinGen Ensembl |
|
|
rs1357308583 CA400422183 |
235 | T>I | No |
ClinGen gnomAD |
|
|
CA400422192 rs1255941506 |
237 | P>S | No |
ClinGen gnomAD |
|
|
rs1225536880 CA400422201 |
238 | T>I | No |
ClinGen TOPMed |
|
|
CA8681102 rs771995062 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775310355 CA8681103 |
244 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775310355 CA400422237 |
244 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA400422278 rs1466038759 |
250 | V>I | No |
ClinGen Ensembl |
|
|
CA8681105 rs763906159 |
254 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA400422323 rs1223503800 |
256 | A>G | No |
ClinGen gnomAD |
|
|
CA400422325 rs1555603752 RCV000578851 |
257 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 260 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762005893 CA8681125 |
266 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs147849182 CA8681124 |
266 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8681126 rs765542295 |
267 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773475884 CA8681127 |
268 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755458497 CA8681131 |
281 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419628469 CA400422954 |
293 | I>T | No |
ClinGen gnomAD |
|
|
CA8681132 rs141466492 |
293 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400423094 rs1408457952 |
303 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 305 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681134 rs756921292 |
307 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446971777 CA400423170 |
309 | H>Y | No |
ClinGen TOPMed |
|
|
rs1165273019 CA400423203 COSM1470970 |
311 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA400423214 rs1159295554 |
312 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 328 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681151 rs756499340 |
328 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA292144518 rs768975230 |
331 | E>D | No |
ClinGen Ensembl |
|
|
CA8681152 rs764388804 |
333 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750086173 CA8681153 |
340 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs750086173 CA400423505 |
340 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1384911 rs1344484363 CA400423598 |
354 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs747997399 CA8681159 |
354 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs1280430512 CA400423654 |
362 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1482698783 CA400423680 |
366 | R>Q | No |
ClinGen gnomAD |
|
|
CA8681161 rs777653866 |
369 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064562 CA292144580 |
371 | L>H | No |
ClinGen Ensembl |
|
|
CA400423725 rs1180982389 |
373 | A>T | No |
ClinGen gnomAD |
|
|
CA400423749 rs1390248582 |
376 | N>T | No |
ClinGen gnomAD |
|
|
COSM347713 CA8681163 rs771278812 |
378 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1555604790 CA400423899 |
385 | A>V | No |
ClinGen Ensembl |
|
|
CA8681167 rs138996648 |
386 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357839484 CA400423912 |
387 | A>T | No |
ClinGen gnomAD |
|
|
CA400423924 rs1442834457 |
388 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681190 rs765478805 |
393 | R>C | No |
ClinGen ExAC |
|
|
CA400424235 rs1598223846 |
394 | T>P | No |
ClinGen Ensembl |
|
|
CA8681193 rs190868942 |
400 | R>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA8681191 rs368885467 |
400 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752253914 CA8681194 |
403 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA400424356 rs1409711775 |
405 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8681195 rs756180941 |
412 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA400424595 rs1160318590 |
424 | Q>R | No |
ClinGen gnomAD |
|
|
CA8681197 rs753730082 |
425 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 431 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001009038 rs1598223933 |
436 | C>missing | No |
ClinVar dbSNP |
|
|
CA400425158 rs1306059529 |
470 | V>A | No |
ClinGen gnomAD |
|
|
rs1407708083 CA400425156 |
470 | V>L | No |
ClinGen gnomAD |
|
|
RCV001091453 rs2032665966 |
475 | A>missing | No |
ClinVar dbSNP |
|
|
CA8681224 rs748661028 |
484 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038055440 CA292147168 |
486 | N>S | No |
ClinGen TOPMed |
|
|
rs1598225571 RCV001009072 |
487 | K>missing | No |
ClinVar dbSNP |
|
|
rs919818654 CA292147176 |
496 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA292147181 rs1038180264 |
505 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 508 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 508 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781318326 CA8681242 |
511 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447564294 CA400426497 |
513 | D>V | No |
ClinGen gnomAD |
|
|
CA400426531 rs1479142821 |
515 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1378138519 CA400426534 |
515 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 520 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400426638 rs1461231562 |
521 | V>I | No |
ClinGen TOPMed |
|
|
COSM3421742 rs893167974 CA292147813 |
523 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA400426743 rs1170615563 |
525 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681245 rs370244146 |
526 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292147839 rs375430840 |
535 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA8681246 rs749766736 |
536 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681247 rs771432222 |
544 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400427061 rs1362476486 |
546 | I>V | No |
ClinGen gnomAD |
|
|
rs1222344629 CA400427236 |
549 | I>F | No |
ClinGen gnomAD |
|
|
CA400427233 rs1222344629 |
549 | I>L | No |
ClinGen gnomAD |
|
|
rs768460494 CA8681269 |
550 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA400427247 rs768460494 |
550 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs565833209 CA8681270 |
552 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 565 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409256084 CA400427433 |
569 | A>T | No |
ClinGen gnomAD |
|
|
rs1331599439 CA400427438 |
569 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400427475 rs181696643 |
572 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8681276 rs149612863 |
574 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8681277 rs146137742 |
574 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1303002364 CA400427513 |
576 | S>F | No |
ClinGen gnomAD |
|
|
rs767263532 CA8681278 |
580 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs931554245 CA292148984 |
581 | Q>* | No |
ClinGen TOPMed |
|
|
CA8681280 COSM3932681 rs760880148 |
582 | T>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 586 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373446062 CA8681282 |
587 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400427661 rs1197069990 |
590 | M>K | No |
ClinGen TOPMed |
|
|
CA400427662 rs1197069990 |
590 | M>T | No |
ClinGen TOPMed |
|
|
CA8681283 RCV001200227 rs757885268 |
592 | A>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1555605426 CA400427761 |
595 | V>I | No |
ClinGen Ensembl |
|
|
rs1321279908 CA400427896 |
604 | M>I | No |
ClinGen gnomAD |
|
|
CA400427906 rs1163377766 |
605 | F>V | No |
ClinGen gnomAD |
|
|
CA400427931 rs1367517880 |
607 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292149371 rs935089534 |
610 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 610 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197828838 CA400428001 |
611 | A>S | No |
ClinGen TOPMed |
|
|
rs1598227777 CA400428028 |
613 | I>L | No |
ClinGen Ensembl |
|
|
rs1338687722 CA400428035 |
613 | I>T | No |
ClinGen gnomAD |
|
|
rs766722117 CA8681308 |
616 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8681310 rs755773933 |
617 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206801034 CA400428161 |
622 | L>V | No |
ClinGen TOPMed |
|
|
CA400428194 rs1268204688 |
625 | R>C | No |
ClinGen gnomAD |
|
|
rs1465807161 CA400428195 |
625 | R>H | No |
ClinGen gnomAD |
|
|
rs756786764 CA8681313 |
638 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778341773 CA8681314 |
638 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681315 rs543815524 |
648 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753506680 CA8681331 |
652 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA400428575 rs1414411157 |
654 | Y>C | No |
ClinGen gnomAD |
|
|
CA16040304 rs1385784474 |
661 | E>V | No |
ClinGen TOPMed |
|
|
rs778448289 CA8681334 |
668 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681335 rs749909728 |
676 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000579377 CA400429029 rs1555605497 |
684 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 690 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400429133 rs1567958681 |
693 | L>Q | No |
ClinGen Ensembl |
|
|
rs1555605498 CA400429154 |
695 | T>A | No |
ClinGen Ensembl |
|
|
CA400429161 rs1278436469 |
696 | Q>K | No |
ClinGen gnomAD |
|
|
rs746870889 CA8681338 |
697 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8681340 rs781066265 |
699 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1003671353 CA292149793 |
701 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 704 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 706 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681356 rs757945643 |
713 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400429683 rs1257065281 |
724 | D>E | No |
ClinGen gnomAD |
|
|
CA8681357 rs779372939 |
725 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8681358 rs751518982 |
726 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1053326001 CA292151101 |
726 | D>V | No |
ClinGen Ensembl |
|
|
CA400413692 rs1425751033 |
728 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 744 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400413841 rs1453039591 |
749 | R>K | No |
ClinGen TOPMed |
|
|
rs1454289985 RCV000657777 CA400413877 |
753 | C>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8681363 rs778173928 |
754 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1002745687 CA400413885 |
755 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA292107607 rs1002745687 |
755 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749424905 CA8681364 |
756 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 756 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400413893 rs749424905 |
756 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8681365 rs771059610 |
761 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755766574 CA292110741 |
773 | P>S | No |
ClinGen Ensembl |
|
|
rs1330114366 CA400415063 |
775 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400415183 rs1204553264 |
792 | Y>F | No |
ClinGen gnomAD |
|
|
RCV000599379 rs1197039101 CA400415269 |
803 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA400415270 rs1247057248 |
804 | V>I | No |
ClinGen TOPMed |
|
|
rs752683241 CA8681403 |
809 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752683241 CA8681402 |
809 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA400415333 rs1371970086 |
811 | R>Q | No |
ClinGen TOPMed |
|
|
rs112291860 CA292111487 |
815 | V>A | No |
ClinGen Ensembl |
|
|
CA400415447 rs1187723234 |
828 | V>A | No |
ClinGen TOPMed |
|
|
CA400415467 rs1296725950 |
831 | N>T | No |
ClinGen gnomAD |
|
|
CA292111498 rs373696281 |
835 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 842 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458015475 CA400415544 |
843 | D>N | No |
ClinGen TOPMed |
|
|
rs780053211 CA8681410 |
849 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 852 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555606338 CA400415623 RCV000578738 |
854 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748648068 CA8681435 |
870 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA400415742 rs1567965860 |
870 | C>S | No |
ClinGen Ensembl |
|
|
CA292113313 rs945446430 |
872 | E>D | No |
ClinGen Ensembl |
|
|
CA8681436 rs770057445 |
873 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200957969 CA8681438 |
876 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000627660 rs1555606630 |
884 | I>missing | No |
ClinVar dbSNP |
|
|
rs768176540 CA8681442 |
884 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1033554362 CA292113360 |
884 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 885 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284860254 CA400415863 |
887 | N>S | No |
ClinGen gnomAD |
|
|
COSM191949 CA400415920 rs1449246482 |
895 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs984578159 CA292113369 |
895 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400415922 rs984578159 |
895 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 900 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142283994 CA8681447 COSM3691715 |
903 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1598236571 TCGA novel CA400415979 |
903 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs142283994 CA400415977 |
903 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8681449 rs371208527 |
904 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1480207382 CA400415998 |
906 | G>A | No |
ClinGen gnomAD |
|
|
rs781264006 CA8681451 |
918 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs962752209 CA292113401 |
923 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs374166486 CA8681453 |
923 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400416190 rs1304688328 |
924 | G>S | No |
ClinGen gnomAD |
|
|
rs749634959 CA8681455 |
931 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000627661 rs1555606652 |
932 | N>missing | No |
ClinVar dbSNP |
|
|
CA400416317 rs1567967726 |
935 | N>S | No |
ClinGen Ensembl |
|
|
rs764669330 CA8681471 |
936 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA292114999 rs766689151 |
938 | S>A | No |
ClinGen gnomAD |
|
|
CA292115015 rs200498999 |
941 | K>R | No |
ClinGen 1000Genomes |
|
|
CA8681475 rs746701247 |
945 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs948203306 CA292115032 |
945 | R>H | No |
ClinGen TOPMed |
|
|
CA8681477 rs780608860 |
949 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs774841659 CA292115070 |
949 | R>H | No |
ClinGen gnomAD |
|
|
CA8681478 rs747671478 COSM1637331 |
950 | R>Q | Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA292115086 rs1004854176 |
951 | K>R | No |
ClinGen TOPMed |
|
|
CA400416458 rs1382120363 |
957 | G>S | No |
ClinGen TOPMed |
|
|
CA8681481 rs749156687 |
962 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA292115106 rs899432171 |
963 | S>G | No |
ClinGen TOPMed |
|
|
CA292115136 rs894692184 |
964 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770723620 CA8681482 |
964 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1444315245 CA400416608 |
978 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 981 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747580339 CA292116147 |
990 | V>I | No |
ClinGen Ensembl |
|
|
CA8681507 rs762451775 |
994 | A>T | No |
ClinGen ExAC |
|
|
rs1453850832 CA400416756 |
999 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1006 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1015 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417026 rs1387609455 |
1037 | R>C | No |
ClinGen gnomAD |
|
|
rs758267600 CA8681537 |
1037 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767271671 CA292116395 |
1039 | R>H | No |
ClinGen Ensembl |
|
|
rs1164473627 CA400417051 |
1041 | M>T | No |
ClinGen gnomAD |
|
|
CA400417068 rs1355364739 |
1043 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1043 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681538 rs779942141 |
1044 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1050 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1053 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417144 rs1555607160 |
1054 | D>G | No |
ClinGen Ensembl |
|
|
rs372461487 CA8681540 |
1057 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8681542 rs748314755 |
1059 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400417203 rs1416551345 COSM349402 |
1063 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA400417206 rs1423655534 |
1063 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1065 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417277 rs1472070336 |
1073 | R>Q | No |
ClinGen gnomAD |
|
|
rs1245547029 CA400417276 |
1073 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759911857 CA8681548 |
1078 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8681562 rs544646038 |
1085 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA292116556 rs199715555 |
1089 | I>T | No |
ClinGen Ensembl |
|
|
rs774866092 CA8681565 |
1091 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400417481 rs1298816119 |
1101 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1103 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772486435 CA8681567 |
1103 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1105 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292116570 rs751309131 |
1105 | P>S | No |
ClinGen Ensembl |
|
|
CA292116571 rs754983934 |
1106 | A>V | No |
ClinGen gnomAD |
|
|
rs1317414543 CA400417551 |
1111 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1118 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417609 rs1218109495 |
1119 | G>E | No |
ClinGen gnomAD |
|
|
rs765922955 CA8681573 |
1121 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1292073753 CA400417623 |
1121 | V>L | No |
ClinGen gnomAD |
|
|
rs1214933728 CA400417642 |
1124 | A>T | No |
ClinGen gnomAD |
|
|
CA400417649 rs1262848984 |
1125 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1126 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417670 rs1377263255 |
1128 | Y>N | No |
ClinGen TOPMed |
|
|
CA658798929 rs1555607235 RCV000627401 |
1129 | I>KL* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1403018907 CA400417684 |
1129 | I>M | No |
ClinGen TOPMed |
|
|
rs759531910 CA8681575 |
1135 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1135 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292116621 rs769713826 |
1138 | M>T | No |
ClinGen Ensembl |
|
|
CA400417766 rs1159183000 |
1141 | V>A | No |
ClinGen gnomAD |
|
|
CA8681577 rs752403435 |
1143 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1145 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756406467 CA8681578 |
1145 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292116654 rs924317142 |
1146 | T>S | No |
ClinGen Ensembl |
|
|
CA8681579 rs374051627 |
1148 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404331303 CA400417838 |
1150 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1157 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400417891 rs1465434758 |
1158 | Q>E | No |
ClinGen TOPMed |
|
|
CA8681597 rs754017280 |
1158 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs757469145 CA8681598 |
1159 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8681599 rs779006423 |
1161 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400417913 rs1451355390 |
1161 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8681601 rs758426914 |
1165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400417961 rs535063340 |
1168 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535063340 CA8681602 |
1168 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747483150 CA8681603 |
1169 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1598241437 RCV001009018 |
1172 | E>missing | No |
ClinVar dbSNP |
|
|
CA400418011 rs1198056892 |
1176 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1199094987 CA400418107 |
1190 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1191 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1610553 CA8681608 rs774053560 |
1191 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 1196 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745393067 CA8681609 |
1197 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1399559351 CA400418204 |
1202 | G>C | No |
ClinGen gnomAD |
|
|
CA8681634 rs776387946 COSM1238537 |
1204 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148113473 CA8681635 |
1204 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201350683 CA292117217 |
1208 | E>Q | No |
ClinGen Ensembl |
|
|
CA8681638 rs763150110 |
1211 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555607332 RCV000598613 |
1214 | A>missing | No |
ClinVar dbSNP |
|
|
CA8681639 rs766437661 |
1216 | L>* | No |
ClinGen ExAC |
|
|
rs1567970345 CA400418337 |
1220 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1223 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755485844 CA8681641 |
1226 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748994450 CA8681642 |
1226 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA400418388 rs1446312587 |
1228 | A>S | No |
ClinGen gnomAD |
|
|
CA292117266 rs181278299 |
1235 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1381380592 CA400418504 |
1237 | Y>H | No |
ClinGen TOPMed |
|
|
rs980672879 CA292117269 |
1243 | G>W | No |
ClinGen TOPMed |
|
| TCGA novel | 1255 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304033026 CA400418806 |
1255 | E>K | No |
ClinGen gnomAD |
|
|
rs1332973535 CA400418920 |
1258 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1258 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772988240 CA8681656 |
1259 | A>T | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1351855076 CA400419070 |
1267 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400419130 rs1456527911 |
1270 | Q>H | No |
ClinGen gnomAD |
|
|
rs972611601 CA292117404 |
1271 | M>I | No |
ClinGen TOPMed |
|
|
CA8681657 rs763201013 |
1274 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs771160032 CA8681658 COSM70209 |
1289 | Y>C | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA400419346 rs1374521742 COSM1197356 |
1290 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141313166 COSM1248484 CA8681668 |
1293 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA400419398 rs141313166 |
1293 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400419404 rs911275826 COSM1640762 |
1293 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs911275826 CA292117485 |
1293 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1402160392 CA400419427 |
1295 | Y>C | No |
ClinGen gnomAD |
|
|
rs950560529 CA292117520 |
1297 | E>* | No |
ClinGen Ensembl |
|
|
rs369168446 CA292117526 |
1297 | E>A | No |
ClinGen ESP |
|
|
CA8681670 rs373338446 |
1301 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598242182 CA400419943 |
1332 | M>V | No |
ClinGen Ensembl |
|
|
rs774637585 CA8681677 |
1341 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA400420323 rs1275905779 |
1355 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1357 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1379 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681691 rs376231357 |
1380 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400420687 rs1489474572 |
1383 | T>A | No |
ClinGen gnomAD |
|
|
CA400420859 rs1458262195 |
1394 | I>T | No |
ClinGen TOPMed |
|
|
CA400420888 rs1260017081 |
1396 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1397 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400420898 rs1478418025 |
1397 | K>R | No |
ClinGen gnomAD |
|
|
CA292117756 rs766679262 |
1398 | V>I | No |
ClinGen Ensembl |
|
|
rs1214860432 CA400421032 |
1404 | Y>C | No |
ClinGen gnomAD |
|
|
rs762214068 CA8681704 |
1405 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1452349124 CA400421103 |
1409 | Q>R | No |
ClinGen gnomAD |
|
|
CA400421137 rs1567971120 |
1411 | Y>F | No |
ClinGen Ensembl |
|
|
rs765701172 CA8681705 |
1412 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000760896 CA400421158 rs1567971126 |
1413 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1598242522 CA400421170 |
1414 | F>L | No |
ClinGen Ensembl |
|
|
CA400421187 rs1244986924 |
1417 | L>V | No |
ClinGen gnomAD |
|
|
CA400421198 rs1174677857 |
1419 | L>V | No |
ClinGen gnomAD |
|
|
rs1166523639 CA400421249 |
1426 | L>V | No |
ClinGen TOPMed |
|
|
rs918463095 CA292117787 |
1428 | P>L | No |
ClinGen Ensembl |
|
|
rs1441348143 CA400421300 |
1434 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1436 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1043437018 CA292117885 |
1442 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400421385 rs1433786906 |
1444 | Q>R | No |
ClinGen TOPMed |
|
|
CA292117888 rs2292341 |
1446 | P>S | No |
ClinGen Ensembl |
|
|
CA400421419 rs1411136384 |
1450 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1411136384 CA400421420 |
1450 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8681722 rs748731820 |
1453 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA400421492 rs1445125731 |
1460 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1462 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1466 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770180477 CA8681723 |
1466 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA292117918 rs1052697241 |
1473 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400421610 rs1282677299 |
1477 | Y>H | No |
ClinGen gnomAD |
|
|
CA400421652 rs1194005185 |
1481 | R>L | No |
ClinGen gnomAD |
|
|
CA400421659 rs1295983630 |
1483 | S>A | No |
ClinGen TOPMed |
|
|
COSM3820097 rs1383750880 CA400421666 |
1484 | I>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs769876213 CA8681749 |
1485 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1491 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681750 rs778146159 |
1494 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749736750 CA8681751 |
1498 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8681752 rs117813867 |
1498 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749736750 CA400421765 |
1498 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774690176 CA8681753 |
1505 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1509 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292118672 rs769283408 |
1523 | Q>R | No |
ClinGen Ensembl |
|
|
rs1555607616 RCV000627655 |
1524 | S>missing | No |
ClinVar dbSNP |
|
|
CA8681755 rs142167082 |
1525 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8681756 rs142167082 |
1525 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400422095 rs1358809314 |
1526 | E>D | No |
ClinGen gnomAD |
|
|
rs1301142599 CA400422403 |
1531 | D>V | No |
ClinGen gnomAD |
|
|
CA8681759 rs576298046 |
1532 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8681760 rs576298046 |
1532 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484656750 CA400422418 |
1534 | Y>N | No |
ClinGen gnomAD |
|
|
rs772822415 CA8681780 COSM1201467 |
1538 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769254559 CA8681779 |
1538 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378922042 CA400422471 |
1539 | Q>R | No |
ClinGen gnomAD |
|
|
rs1418847588 CA400422528 |
1547 | T>N | No |
ClinGen gnomAD |
|
|
CA292118980 rs941139978 |
1548 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1548 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292118979 rs941139978 |
1548 | E>K | No |
ClinGen Ensembl |
|
|
rs1039443696 CA292118983 |
1548 | E>V | No |
ClinGen Ensembl |
|
|
rs934114274 CA292118992 |
1551 | E>A | No |
ClinGen TOPMed |
|
|
rs759251179 CA8681784 |
1557 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752916649 CA8681786 |
1560 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8681787 rs756350995 |
1561 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8681788 rs764198483 |
1563 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1390576192 CA400422736 |
1564 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1570 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545004033 CA8681790 |
1572 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400422892 rs1317993416 |
1575 | D>V | No |
ClinGen gnomAD |
|
|
rs780462309 CA8681794 |
1582 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs186222560 CA8681796 |
1590 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1591 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681798 rs748841776 |
1592 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8681797 rs143886947 |
1592 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8681801 rs550486562 |
1603 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8681802 rs767279098 |
1607 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1608 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598248371 CA400423971 |
1614 | D>V | No |
ClinGen Ensembl |
|
|
CA400424034 rs1198262566 |
1618 | S>L | No |
ClinGen TOPMed |
|
|
CA292121809 rs954171738 |
1624 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1567976183 CA400424110 |
1627 | T>A | No |
ClinGen Ensembl |
|
|
CA400424126 rs1360720754 |
1629 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1631 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267839570 CA400424151 |
1633 | V>L | No |
ClinGen gnomAD |
|
|
CA400425504 rs1237584336 |
1638 | Q>P | No |
ClinGen TOPMed |
|
|
rs756935113 CA8681844 |
1645 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753608498 CA8681843 |
1645 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440912077 CA400425649 |
1646 | S>R | No |
ClinGen gnomAD |
|
|
rs868709401 CA292124572 |
1648 | A>V | No |
ClinGen Ensembl |
|
|
CA8681846 rs201832071 |
1649 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400425714 rs1337950048 |
1649 | V>I | No |
ClinGen gnomAD |
|
|
CA8681847 rs771441431 |
1651 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001268348 rs2033363279 |
1652 | Q>missing | No |
ClinVar dbSNP |
|
|
CA8681848 rs780043915 |
1654 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400425944 rs1411381430 |
1660 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1660 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400425942 rs1411381430 |
1660 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA400425948 rs1271278136 |
1661 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1662 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8681852 rs762072071 |
1663 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA292124635 rs76202477 |
1664 | Y>* | No |
ClinGen TOPMed |
|
|
CA400426111 rs1156724077 |
1669 | P>A | No |
ClinGen TOPMed |
|
|
rs773269817 CA8681854 |
1669 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs766315012 CA8681856 |
1674 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1016424744 CA292124646 |
1675 | M>I | No |
ClinGen TOPMed |
1 associated diseases with Q00610
[MIM: 617854]: Intellectual developmental disorder, autosomal dominant 56 (MRD56)
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:26822784, ECO:0000269|PubMed:29100083}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:26822784, ECO:0000269|PubMed:29100083}. Note=The disease is caused by variants affecting the gene represented in this entry.
13 regional properties for Q00610
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 537 - 683 | IPR000547-1 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 686 - 828 | IPR000547-2 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 833 - 972 | IPR000547-3 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 979 - 1124 | IPR000547-4 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 1128 - 1269 | IPR000547-5 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 1274 - 1420 | IPR000547-6 |
| repeat | Clathrin, heavy chain/VPS, 7-fold repeat | 1423 - 1582 | IPR000547-7 |
| domain | Clathrin, heavy chain, linker, core motif | 331 - 354 | IPR015348 |
| repeat | Clathrin, heavy chain, propeller repeat | 19 - 56 | IPR022365-1 |
| repeat | Clathrin, heavy chain, propeller repeat | 148 - 187 | IPR022365-2 |
| repeat | Clathrin, heavy chain, propeller repeat | 198 - 234 | IPR022365-3 |
| repeat | Clathrin, heavy chain, propeller repeat | 256 - 288 | IPR022365-4 |
| repeat | Clathrin, heavy chain, propeller repeat | 296 - 330 | IPR022365-5 |
Functions
22 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin coat | A membrane coat found on coated pits and some coated vesicles; consists of polymerized clathrin triskelions, each comprising three clathrin heavy chains and three clathrin light chains, linked to the membrane via one of the AP adaptor complexes. |
| clathrin coat of coated pit | The coat found on coated pits and the coated vesicles derived from coated pits; comprises clathrin and the AP-2 adaptor complex. |
| clathrin coat of trans-Golgi network vesicle | A clathrin coat found on a vesicle of the trans-Golgi network. |
| clathrin complex | A protein complex that consists of three clathrin heavy chains and three clathrin light chains, organized into a symmetrical three-legged structure called a triskelion. In clathrin-coated vesicles clathrin is the main component of the coat and forms a polymeric mechanical scaffold on the vesicle surface. |
| clathrin-coated endocytic vesicle | A clathrin-coated, membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| mitotic spindle microtubule | Any microtubule that is part of a mitotic spindle; anchored at one spindle pole. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| clathrin light chain binding | Binding to a clathrin light chain. |
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
| ubiquitin-specific protease binding | Binding to a ubiquitin-specific protease. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| amyloid-beta clearance by transcytosis | The process in which amyloid-beta is removed from extracellular brain regions by cell surface receptor-mediated endocytosis, followed by transcytosis across the blood-brain barrier. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| clathrin coat assembly | The process that results in the assembly of clathrin triskelia into the ordered structure known as a clathrin cage. |
| clathrin-dependent endocytosis | An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of hyaluronan biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of hyaluronan biosynthetic process. |
| negative regulation of protein localization to plasma membrane | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| regulation of mitotic spindle organization | Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
| transferrin transport | The directed movement of transferrin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P22137 | CHC1 | Clathrin heavy chain | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q68FD5 | Cltc | Clathrin heavy chain 1 | Mus musculus (Mouse) | PR |
| P11442 | Cltc | Clathrin heavy chain 1 | Rattus norvegicus (Rat) | PR |
| P34574 | chc-1 | Probable clathrin heavy chain 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQILPIRFQ | EHLQLQNLGI | NPANIGFSTL | TMESDKFICI | REKVGEQAQV | VIIDMNDPSN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PIRRPISADS | AIMNPASKVI | ALKAGKTLQI | FNIEMKSKMK | AHTMTDDVTF | WKWISLNTVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVTDNAVYHW | SMEGESQPVK | MFDRHSSLAG | CQIINYRTDA | KQKWLLLTGI | SAQQNRVVGA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MQLYSVDRKV | SQPIEGHAAS | FAQFKMEGNA | EESTLFCFAV | RGQAGGKLHI | IEVGTPPTGN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QPFPKKAVDV | FFPPEAQNDF | PVAMQISEKH | DVVFLITKYG | YIHLYDLETG | TCIYMNRISG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ETIFVTAPHE | ATAGIIGVNR | KGQVLSVCVE | EENIIPYITN | VLQNPDLALR | MAVRNNLAGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EELFARKFNA | LFAQGNYSEA | AKVAANAPKG | ILRTPDTIRR | FQSVPAQPGQ | TSPLLQYFGI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLDQGQLNKY | ESLELCRPVL | QQGRKQLLEK | WLKEDKLECS | EELGDLVKSV | DPTLALSVYL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RANVPNKVIQ | CFAETGQVQK | IVLYAKKVGY | TPDWIFLLRN | VMRISPDQGQ | QFAQMLVQDE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EPLADITQIV | DVFMEYNLIQ | QCTAFLLDAL | KNNRPSEGPL | QTRLLEMNLM | HAPQVADAIL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GNQMFTHYDR | AHIAQLCEKA | GLLQRALEHF | TDLYDIKRAV | VHTHLLNPEW | LVNYFGSLSV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EDSLECLRAM | LSANIRQNLQ | ICVQVASKYH | EQLSTQSLIE | LFESFKSFEG | LFYFLGSIVN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FSQDPDVHFK | YIQAACKTGQ | IKEVERICRE | SNCYDPERVK | NFLKEAKLTD | QLPLIIVCDR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FDFVHDLVLY | LYRNNLQKYI | EIYVQKVNPS | RLPVVIGGLL | DVDCSEDVIK | NLILVVRGQF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| STDELVAEVE | KRNRLKLLLP | WLEARIHEGC | EEPATHNALA | KIYIDSNNNP | ERFLRENPYY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DSRVVGKYCE | KRDPHLACVA | YERGQCDLEL | INVCNENSLF | KSLSRYLVRR | KDPELWGSVL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LESNPYRRPL | IDQVVQTALS | ETQDPEEVSV | TVKAFMTADL | PNELIELLEK | IVLDNSVFSE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| HRNLQNLLIL | TAIKADRTRV | MEYINRLDNY | DAPDIANIAI | SNELFEEAFA | IFRKFDVNTS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AVQVLIEHIG | NLDRAYEFAE | RCNEPAVWSQ | LAKAQLQKGM | VKEAIDSYIK | ADDPSSYMEV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VQAANTSGNW | EELVKYLQMA | RKKARESYVE | TELIFALAKT | NRLAELEEFI | NGPNNAHIQQ |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| VGDRCYDEKM | YDAAKLLYNN | VSNFGRLAST | LVHLGEYQAA | VDGARKANST | RTWKEVCFAC |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| VDGKEFRLAQ | MCGLHIVVHA | DELEELINYY | QDRGYFEELI | TMLEAALGLE | RAHMGMFTEL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| AILYSKFKPQ | KMREHLELFW | SRVNIPKVLR | AAEQAHLWAE | LVFLYDKYEE | YDNAIITMMN |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| HPTDAWKEGQ | FKDIITKVAN | VELYYRAIQF | YLEFKPLLLN | DLLMVLSPRL | DHTRAVNYFS |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KVKQLPLVKP | YLRSVQNHNN | KSVNESLNNL | FITEEDYQAL | RTSIDAYDNF | DNISLAQRLE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KHELIEFRRI | AAYLFKGNNR | WKQSVELCKK | DSLYKDAMQY | ASESKDTELA | EELLQWFLQE |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| EKRECFGACL | FTCYDLLRPD | VVLETAWRHN | IMDFAMPYFI | QVMKEYLTKV | DKLDASESLR |
| 1630 | 1640 | 1650 | 1660 | 1670 | |
| KEEEQATETQ | PIVYGQPQLM | LTAGPSVAVP | PQAPFGYGYT | APPYGQPQPG | FGYSM |