Q15813
PR
Gene name |
TBCE |
Protein name |
Tubulin-specific chaperone E |
Names |
Tubulin-folding cofactor E |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6905 |
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
3 structures for Q15813
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4ICU | X-ray | 240 A | A/B/C/D | 443-527 | PDB |
| 4ICV | X-ray | 145 A | A | 443-527 | PDB |
| AF-Q15813-F1 | Predicted | AlphaFoldDB |
429 variants for Q15813
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1572324681 RCV001390254 RCV000005610 |
23 | V>missing | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750637765 CA1463879 RCV001097670 |
24 | R>C | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002486343 COSM3705644 RCV001336550 rs766386026 CA1463881 COSM905831 RCV002546783 |
24 | R>H | liver endometrium Encephalopathy, progressive, with amyotrophy and optic atrophy Hypoparathyroidism-retardation-dysmorphism syndrome [Cosmic, ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
RCV000624008 CA344981738 rs1283368278 |
34 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001782699 rs758937799 RCV000490495 |
48 | K>missing | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767004810 RCV000224858 RCV000191990 RCV000005608 |
52 | S>missing | Autosomal recessive Kenny-Caffey syndrome Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_032920 | 52 | S>del | HRDS and KCS1 [UniProt] | Yes | UniProt |
|
rs147489278 RCV001099438 CA1463965 RCV000898232 RCV000728395 |
64 | P>L | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1463972 rs62620041 RCV000354837 RCV000974002 RCV000358245 |
72 | P>S | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1463983 rs143886167 RCV000265978 RCV000431082 |
85 | I>V | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000728405 RCV001099439 RCV001457327 rs148616786 CA1463991 |
94 | G>E | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1553336397 CA344923980 RCV000625912 |
111 | V>G | Encephalopathy, progressive, with amyotrophy and optic atrophy [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs1572391840 RCV000991360 |
119 | I>missing | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000318538 rs372421061 CA1464034 |
141 | C>Y | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
rs150187679 RCV001099440 RCV000268210 CA1464036 |
149 | A>G | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1464055 RCV001569082 VAR_077878 RCV000412509 rs780472451 |
155 | I>N | Encephalopathy, progressive, with amyotrophy and optic atrophy PEAMO; decreased function in the organization of microtubule cytoskeleton and mitotic splindle [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1680772681 RCV001332241 |
176 | D>V | Encephalopathy, progressive, with amyotrophy and optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332242 rs752561706 CA1464064 |
177 | Q>K | Encephalopathy, progressive, with amyotrophy and optic atrophy [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs16832611 RCV001699430 VAR_032921 CA1464094 RCV000974898 RCV000317479 |
205 | V>A | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000894687 CA1464160 rs75832955 RCV001101431 |
223 | R>W | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000290879 RCV002516598 RCV000173771 rs200022583 CA239231 |
283 | I>F | Inborn genetic diseases Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000412635 rs750781063 RCV002298580 |
308 | S>* | TBCE-Related Disorder Encephalopathy, progressive, with amyotrophy and optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1464313 RCV000224040 RCV000308505 rs35579976 VAR_032922 |
333 | S>T | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121908384 CA117379 RCV000005611 |
371 | C>* | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
RCV003120565 rs1681633971 RCV001336549 |
397 | G>S | Encephalopathy, progressive, with amyotrophy and optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_032923 RCV001700036 CA1464384 rs16832619 RCV000358804 RCV000974899 |
409 | E>G | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
CA1464385 RCV001298186 rs750744949 RCV000393559 |
418 | Y>C | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
rs114972093 RCV000728393 RCV001252727 RCV001488419 CA1464443 RCV000261313 |
466 | P>L | Microcephaly Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1464489 rs143917509 RCV000303019 RCV000332713 |
489 | L>I | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000504178 RCV000274200 RCV000953169 rs140662460 CA1464542 |
526 | R>Q | Hypoparathyroidism-retardation-dysmorphism syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1209804273 CA344978818 |
2 | S>R | No |
ClinGen gnomAD |
|
|
rs368602534 CA1463868 |
3 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344978851 rs1204565671 |
5 | L>S | No |
gnomAD ClinGen |
|
|
CA344978859 rs1190401470 |
6 | T>S | No |
ClinGen TOPMed |
|
|
rs745576681 CA1463869 |
7 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1463870 rs143317838 |
7 | A>V | No |
1000Genomes ESP TOPMed gnomAD ClinGen |
|
|
CA344978884 rs1479973407 |
9 | V>A | No |
gnomAD ClinGen |
|
|
CA1463873 rs775145831 |
9 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344978895 rs1314096454 |
10 | I>T | No |
TOPMed ClinGen |
|
|
rs1276963481 CA344978900 |
11 | G>S | No |
TOPMed ClinGen |
|
|
rs544793676 CA39588195 |
12 | R>* | No |
TOPMed ClinGen |
|
|
rs201164091 CA1463875 |
12 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1366598461 CA344978919 |
13 | R>S | No |
ClinGen TOPMed |
|
|
rs776249919 CA1463876 |
14 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs970581879 CA39588211 |
14 | V>I | No |
ClinGen TOPMed |
|
|
CA344979006 rs1390872569 |
20 | H>R | No |
ClinGen gnomAD |
|
|
rs893747796 CA344979015 |
21 | A>S | No |
ClinGen gnomAD |
|
|
rs893747796 CA39588231 |
21 | A>T | No |
gnomAD ClinGen |
|
|
CA1463878 rs765074248 |
22 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA344979032 rs1558346647 |
22 | T>I | No |
Ensembl ClinGen |
|
|
CA344979034 rs1345503431 |
23 | V>L | No |
gnomAD ClinGen |
|
|
rs750637765 CA1463880 |
24 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39588271 rs981054162 |
27 | G>D | No |
TOPMed ClinGen |
|
|
rs1293879711 CA344979091 |
28 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA344979085 rs1360470227 |
28 | V>I | No |
TOPMed ClinGen |
|
|
CA1463882 rs751679100 |
30 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344979116 rs1384863903 |
31 | P>H | No |
ClinGen gnomAD |
|
|
CA344979112 rs1238630472 |
31 | P>S | No |
ClinGen gnomAD |
|
|
CA1463883 rs755396056 |
32 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753196917 CA1463885 |
33 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1463886 rs756536817 |
33 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA344981796 rs1173121831 |
38 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA1463933 rs759642952 |
38 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA344981813 rs1303860037 |
39 | V>A | No |
gnomAD ClinGen |
|
|
rs1450737595 CA344981818 |
40 | E>* | No |
ClinGen gnomAD |
|
|
CA1463935 rs753246233 |
43 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA344981953 rs1275010951 |
45 | E>D | No |
ClinGen gnomAD |
|
|
COSM1185792 CA1463936 rs199888401 |
45 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA39604477 rs952386295 |
48 | K>N | No |
Ensembl ClinGen |
|
|
rs1203477502 CA344982036 |
49 | H>D | No |
ClinGen gnomAD |
|
|
rs1456150302 CA344982057 |
49 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344982091 rs1361375419 |
50 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1181399405 CA344982188 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs758083615 CA1463940 |
55 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA344982261 rs1402133725 |
57 | V>M | No |
ClinGen gnomAD |
|
|
CA344982352 rs779727090 |
61 | C>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1463941 rs779727090 |
61 | C>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344922760 rs1344720787 |
63 | H>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA1463966 rs147489278 |
64 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344922773 RCV001315472 rs1437328895 |
64 | P>S | No |
gnomAD ClinGen ClinVar dbSNP |
|
|
CA39569276 rs144747353 |
65 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000309356 CA1463968 rs144747353 RCV000970946 |
65 | T>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1282402331 CA344922856 |
66 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs376459211 CA1463970 |
71 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1463971 rs775857834 COSM905833 |
71 | R>H | endometrium [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs775857834 CA344923028 |
71 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768907207 CA1463973 |
72 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA344923176 rs1295687951 |
74 | K>N | No |
Ensembl ClinGen |
|
|
rs765578096 CA1463977 |
77 | F>V | No |
ClinGen ExAC |
|
|
CA344923310 rs1233843069 |
78 | G>E | No |
gnomAD ClinGen |
|
|
CA344923363 rs1319324562 |
80 | D>A | No |
ClinGen TOPMed |
|
|
rs1157011952 CA344923370 |
80 | D>E | No |
ClinGen gnomAD |
|
|
CA344923357 rs1471259378 |
80 | D>Y | No |
ClinGen gnomAD |
|
|
rs970931240 CA39569330 |
81 | F>S | No |
Ensembl ClinGen |
|
|
CA1463978 rs542328397 RCV000592871 |
82 | L>I | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA1463980 rs767044069 COSM1501724 |
83 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752392215 CA1463981 |
84 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344923544 rs1444178399 |
87 | N>K | No |
gnomAD ClinGen |
|
|
CA344923537 rs926114526 |
87 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs926114526 CA39569379 |
87 | N>T | No |
TOPMed gnomAD ClinGen |
|
|
CA1463984 rs200422130 |
88 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536195712 CA1463986 |
88 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1463985 rs200422130 |
88 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200547451 CA1463988 |
91 | L>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1463989 rs780401819 |
93 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA344923655 rs1251923953 |
94 | G>R | No |
ClinGen gnomAD |
|
|
rs776864478 CA1463992 |
95 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA344923702 rs1445466787 |
97 | E>* | No |
ClinGen gnomAD |
|
|
CA344923722 rs1185430377 |
98 | D>E | No |
ClinGen gnomAD |
|
|
CA344923732 rs1377926015 |
99 | R>T | No |
TOPMed ClinGen |
|
|
rs770233453 CA1463994 |
100 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA344923769 rs1558372909 |
101 | E>* | No |
ClinGen Ensembl |
|
|
CA344923777 rs1422621609 |
101 | E>D | No |
ClinGen gnomAD |
|
|
rs1162828786 CA344923819 |
103 | I>M | No |
ClinGen gnomAD |
|
|
CA344923818 rs1431333031 |
103 | I>T | No |
TOPMed ClinGen |
|
|
COSM342942 rs773805966 CA1463995 |
104 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1411445353 CA344923853 |
105 | T>I | No |
ClinGen gnomAD |
|
|
rs1189277115 CA344923869 |
106 | I>T | No |
ClinGen TOPMed |
|
|
CA344923859 rs1326613890 |
106 | I>V | No |
gnomAD ClinGen |
|
|
CA344923883 rs1558372966 |
107 | G>V | No |
Ensembl ClinGen |
|
|
CA344923959 rs1452950119 |
110 | P>L | No |
gnomAD ClinGen |
|
|
RCV000728848 rs1558372993 CA344923986 |
112 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA344924023 rs1246418543 |
113 | T>A | No |
ClinGen TOPMed |
|
|
rs766820945 CA1463997 |
113 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs146697764 CA1463999 |
115 | G>S | No |
ESP ExAC gnomAD ClinGen |
|
|
COSM905835 CA344924147 rs1572391818 |
117 | D>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs373754450 CA1464001 |
119 | I>T | No |
ESP ExAC TOPMed ClinGen |
|
|
rs763540099 CA1464000 |
119 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1304705173 CA344924252 |
120 | M>I | No |
ClinGen gnomAD |
|
|
rs757180287 CA1464002 |
120 | M>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA39569488 rs200872874 |
124 | S>G | No |
Ensembl ClinGen |
|
|
CA39573316 rs903796415 |
125 | Q>* | No |
Ensembl ClinGen |
|
|
rs748456118 CA1464028 |
127 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA344925847 rs1359480695 |
129 | L>F | No |
TOPMed ClinGen |
|
|
rs1448142495 CA344925891 |
130 | Q>H | No |
ClinGen TOPMed |
|
|
rs777909796 CA1464030 |
130 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1464031 rs144448831 RCV000735123 |
132 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA344925958 rs1334603817 |
133 | S>F | No |
ClinGen TOPMed |
|
|
rs141117231 CA39573385 |
135 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344926052 rs1172611914 |
137 | C>R | No |
ClinGen TOPMed |
|
|
CA344926096 rs1266532300 |
138 | A>V | No |
gnomAD ClinGen |
|
|
rs1407496475 CA344926101 |
139 | V>I | No |
gnomAD ClinGen |
|
|
CA344926230 rs1159339126 |
143 | G>R | No |
gnomAD ClinGen |
|
|
CA344926320 rs1329466833 |
145 | K>* | No |
Ensembl ClinGen |
|
|
CA344926415 rs1450977718 |
146 | G>* | No |
ClinGen gnomAD |
|
|
CA344926545 rs1366670638 |
148 | V>A | No |
gnomAD ClinGen |
|
|
rs1157534951 CA344926462 |
148 | V>I | No |
ClinGen gnomAD |
|
|
rs771313469 CA39573415 |
151 | A>E | No |
ExAC gnomAD ClinGen |
|
|
CA1464037 rs771313469 |
151 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1464038 rs764592612 |
152 | C>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1473818729 CA344926776 |
154 | N>D | No |
ClinGen TOPMed |
|
|
CA344929949 rs1385042309 |
154 | N>T | No |
gnomAD ClinGen |
|
|
CA344930009 rs1310470366 |
157 | K>N | No |
ClinGen gnomAD |
|
|
CA344930101 rs1321117463 |
161 | S>L | No |
gnomAD ClinGen |
|
|
CA1464056 rs747704557 |
166 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA1464060 CA1464059 rs762529448 |
168 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs774422061 CA1464061 |
169 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA39580292 rs141561791 |
169 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344930295 rs141561791 |
169 | D>Y | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs759548385 CA1464062 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172923780 CA344930414 |
172 | I>M | No |
gnomAD ClinGen |
|
|
CA1464063 rs767156633 |
173 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344930543 rs752561706 |
177 | Q>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs142804756 CA1464065 |
180 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344930679 rs1278817828 |
182 | E>Q | No |
TOPMed ClinGen |
|
|
rs754110089 CA1464067 |
183 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344930691 rs754110089 |
183 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1450537235 CA344930785 |
185 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344930758 rs1347378907 |
185 | N>T | No |
TOPMed ClinGen |
|
|
CA39580330 rs143573111 |
187 | S>G | No |
ESP gnomAD ClinGen |
|
|
rs1215122109 CA344930844 |
187 | S>I | No |
ClinGen gnomAD |
|
|
rs763854135 CA1464083 |
188 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs749879886 CA39582921 |
190 | K>E | No |
ClinGen Ensembl |
|
|
rs150592371 CA1464085 |
190 | K>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150592371 CA1464086 |
190 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1464084 rs150592371 RCV001351583 |
190 | K>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA1464087 rs750531445 |
191 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs758446148 CA1464088 |
192 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1464089 rs182268162 |
194 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469308391 COSM4136032 CA344933228 |
195 | S>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA344933216 rs1479685236 |
195 | S>T | No |
gnomAD ClinGen |
|
|
CA344933231 rs1409065511 |
196 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA39582958 rs753206339 |
197 | S>* | No |
ClinGen Ensembl |
|
|
CA1464091 rs755362328 |
198 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA39582964 rs199524448 |
199 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1358486127 CA344933322 |
201 | G>A | No |
gnomAD ClinGen |
|
|
CA39582968 rs146212030 |
202 | T>M | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1403042112 CA344933354 |
203 | L>F | No |
gnomAD ClinGen |
|
|
rs545291372 CA1464096 |
208 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1283279004 CA344933497 |
211 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1572419607 CA344933519 |
212 | N>S | No |
Ensembl ClinGen |
|
|
CA1464098 rs775486249 |
217 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1464099 rs563482935 |
217 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373148626 CA1464101 |
220 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1231656868 CA344933644 |
220 | E>V | No |
ClinGen TOPMed |
|
|
rs956663950 CA39585410 |
222 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1464161 rs376153508 |
223 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344936586 rs1469497529 |
224 | C>Y | No |
ClinGen TOPMed |
|
|
rs1025632450 CA39585431 |
225 | V>A | No |
ClinGen Ensembl |
|
|
rs749002930 CA1464164 |
226 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778992580 CA344936717 |
227 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344936726 rs1437322929 |
227 | G>V | No |
gnomAD ClinGen |
|
|
rs778992580 CA1464166 |
227 | G>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746163655 CA344936754 |
228 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158559928 CA344936742 |
228 | C>R | No |
gnomAD ClinGen |
|
|
CA1464167 rs746163655 |
228 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775726610 CA1464169 |
230 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1254580905 CA344936817 |
230 | G>R | No |
ClinGen TOPMed |
|
|
rs1390228975 CA344936875 |
233 | E>K | No |
ClinGen gnomAD |
|
|
CA344936948 rs1311795072 |
234 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs769076606 CA344936959 |
235 | Y>D | No |
ExAC gnomAD ClinGen |
|
|
rs769076606 CA1464171 |
235 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs777241508 CA344936997 |
236 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777241508 CA1464172 |
236 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360074361 CA344937035 |
237 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA39585519 rs920073867 |
239 | N>D | No |
TOPMed ClinGen |
|
|
CA344937190 rs1263480389 |
240 | N>S | No |
gnomAD ClinGen |
|
|
CA344937290 rs1487931996 |
243 | I>V | No |
ClinGen gnomAD |
|
|
CA1464176 rs370534306 |
245 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1464203 rs763729563 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368360310 CA1464204 |
250 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1464205 rs757235854 |
252 | Q>R | No |
ClinGen ExAC |
|
|
rs1205152249 CA344938024 |
254 | V>F | No |
TOPMed ClinGen |
|
|
rs1348861530 CA344938035 |
255 | K>E | No |
gnomAD ClinGen |
|
|
RCV001300076 rs1681410284 |
255 | K>R | No |
ClinVar dbSNP |
|
|
CA344938069 rs1558388240 |
259 | L>P | No |
Ensembl ClinGen |
|
|
CA344938073 rs1315636956 |
260 | S>P | No |
gnomAD ClinGen |
|
|
CA344938082 rs1572430119 |
261 | S>F | No |
ClinGen Ensembl |
|
|
rs750276566 CA1464207 |
262 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA344938092 rs1247660902 |
263 | Q>* | No |
TOPMed ClinGen |
|
|
CA1464209 rs780407960 |
265 | I>S | No |
ExAC gnomAD ClinGen |
|
|
CA344938106 rs1319573852 |
265 | I>V | No |
ClinGen TOPMed |
|
|
CA1464210 rs751896021 |
269 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs556066006 CA39586809 |
269 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748549375 CA1464213 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770360751 CA1464214 |
274 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1464216 rs185801847 |
275 | H>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1374966097 CA344938220 |
275 | H>Y | No |
ClinGen TOPMed |
|
|
rs1408765134 CA344939503 |
279 | L>S | No |
ClinGen gnomAD |
|
|
rs752790319 RCV000722643 CA344939542 |
281 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1464230 rs752790319 |
281 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1464232 rs200022583 |
283 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs941572631 CA39587302 |
284 | L>F | No |
TOPMed ClinGen |
|
|
rs1323987506 CA344939648 |
285 | S>F | No |
ClinGen gnomAD |
|
|
rs1351213902 CA344939656 |
286 | D>H | No |
gnomAD ClinGen |
|
|
CA344939710 rs1408545045 |
287 | T>N | No |
ClinGen TOPMed |
|
|
rs1433890461 CA344939831 |
292 | L>P | No |
gnomAD ClinGen |
|
|
CA1464233 rs771220087 |
293 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368104665 CA1464235 |
295 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344939971 rs549358853 |
297 | A>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs549358853 CA1464238 |
297 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs754063311 CA39587338 |
298 | G>R | No |
Ensembl ClinGen |
|
|
rs769493769 CA1464239 |
299 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773213681 CA1464240 |
300 | G>W | No |
ExAC gnomAD ClinGen |
|
|
CA1464261 rs770960177 |
301 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA1464263 rs759360868 |
303 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs913431478 CA39587523 |
304 | S>F | No |
ClinGen Ensembl |
|
|
rs142462266 CA344940427 CA1464265 |
305 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344940409 rs1168144634 |
305 | M>V | No |
ClinGen gnomAD |
|
|
rs760902811 CA1464266 |
306 | F>S | No |
ExAC gnomAD ClinGen |
|
|
rs764111770 CA1464268 |
308 | S>T | No |
ExAC TOPMed ClinGen |
|
|
rs1336710867 CA344940574 |
309 | L>S | No |
gnomAD ClinGen |
|
|
rs1339227179 CA344940631 |
310 | K>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1339227179 CA344940630 |
310 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA344940708 rs1478855595 |
313 | V>L | No |
ClinGen TOPMed |
|
|
rs138014826 CA1464271 |
315 | N>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750953317 CA1464272 |
316 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344940867 rs1558388977 |
318 | Q>* | No |
Ensembl ClinGen |
|
|
CA344940898 rs1447825780 |
318 | Q>H | No |
ClinGen TOPMed |
|
|
rs758720912 CA1464273 |
318 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780292098 CA1464274 |
321 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA344941020 rs1286676769 |
321 | Q>R | No |
TOPMed ClinGen |
|
|
CA39588349 rs943233135 |
322 | W>S | No |
TOPMed gnomAD ClinGen |
|
|
rs373781951 CA1464307 |
323 | S>L | No |
ESP ExAC gnomAD ClinGen |
|
|
CA1464306 rs373781951 |
323 | S>W | No |
ESP ExAC gnomAD ClinGen |
|
|
CA1464309 rs763129015 |
325 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA344941744 rs886046151 |
327 | E>D | No |
TOPMed ClinGen |
|
|
rs1388711028 CA344941754 |
328 | L>V | No |
gnomAD ClinGen |
|
|
CA1464311 rs752170040 |
329 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1464312 rs759973845 |
332 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344941905 rs759973845 |
332 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1237626124 CA344941997 |
334 | L>P | No |
ClinGen gnomAD |
|
|
CA344941976 rs1355780729 |
334 | L>V | No |
ClinGen gnomAD |
|
|
rs778447143 CA1464316 |
335 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756884517 CA1464315 |
335 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264903333 CA344942056 |
337 | L>V | No |
gnomAD ClinGen |
|
|
rs1467638371 CA344942102 |
338 | S>C | No |
ClinGen gnomAD |
|
|
rs1467638371 CA344942111 |
338 | S>F | No |
gnomAD ClinGen |
|
|
CA344942123 rs1382641090 |
339 | C>R | No |
gnomAD ClinGen |
|
|
CA344942164 rs1159067673 |
341 | R>T | No |
gnomAD ClinGen |
|
|
rs1478924801 CA344942211 |
342 | N>K | No |
TOPMed ClinGen |
|
|
CA344942194 rs1558389763 |
342 | N>S | No |
Ensembl ClinGen |
|
|
CA344942229 rs947466332 |
343 | P>S | No |
ClinGen gnomAD |
|
|
rs947466332 CA39588433 |
343 | P>T | No |
gnomAD ClinGen |
|
|
CA344942299 rs1459819286 |
345 | T>I | No |
gnomAD ClinGen |
|
|
CA1464318 rs757979956 |
346 | K>T | No |
ExAC gnomAD ClinGen |
|
|
RCV001090704 rs1681531187 |
347 | E>missing | No |
ClinVar dbSNP |
|
|
CA1464320 rs747019054 |
353 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs141668253 CA1464321 |
353 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370039860 CA1464323 |
354 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA39588461 rs139840338 |
355 | R>* | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs145865676 CA1464325 |
355 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344942689 rs1263247432 |
356 | L>V | No |
gnomAD ClinGen |
|
|
rs534421903 CA1464327 |
359 | I>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA344942766 rs1461256669 |
359 | I>V | No |
gnomAD ClinGen |
|
|
CA344942812 rs1177122960 |
360 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA344942807 rs1456103722 |
360 | A>T | No |
ClinGen gnomAD |
|
|
CA344942821 rs1257565712 |
361 | S>N | No |
ClinGen gnomAD |
|
|
rs993230003 CA39588494 |
362 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1344527690 CA344942877 |
363 | G>R | No |
ClinGen TOPMed |
|
|
CA1464329 rs367814812 |
364 | Q>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1464330 rs371612892 |
366 | K>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs375029397 CA1464331 |
367 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1398179707 CA344943125 |
369 | N>K | No |
gnomAD ClinGen |
|
|
CA344943148 rs1450344942 |
370 | K>* | No |
ClinGen TOPMed |
|
|
rs368212312 CA39588516 |
371 | C>R | No |
ESP ClinGen |
|
|
CA1464333 rs761140932 |
371 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764775810 CA1464334 |
372 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs181737340 CA1464354 |
373 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs534429345 CA39592628 |
374 | L>I | No |
ClinGen Ensembl |
|
|
rs751036181 CA1464357 |
376 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344944617 rs1375662910 |
376 | E>Q | No |
TOPMed ClinGen |
|
|
CA344944659 rs1191804308 |
377 | E>D | No |
gnomAD ClinGen |
|
|
rs1475221663 CA344944642 |
377 | E>K | No |
gnomAD ClinGen |
|
|
rs767425036 CA1464359 |
379 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA1464358 rs187162634 |
379 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344944697 rs1572436859 |
380 | R>G | No |
Ensembl ClinGen |
|
|
CA344944706 rs1393991210 |
380 | R>K | No |
ClinGen TOPMed |
|
|
rs752745697 CA1464360 |
381 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1394408398 CA344944885 |
383 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1430202343 CA344944893 |
383 | L>P | No |
ClinGen TOPMed |
|
|
CA1464361 rs755798626 |
386 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA1464362 rs755798626 |
386 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs576878157 CA1464363 |
386 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344944943 rs1343028893 |
387 | K>R | No |
ClinGen gnomAD |
|
|
rs757586597 CA1464364 |
388 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs757586597 CA1464365 |
388 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA39592706 rs1012095447 |
391 | N>K | No |
Ensembl ClinGen |
|
|
rs772337546 CA1464367 |
391 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1553339816 CA344945135 RCV000658554 |
395 | Q>* | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
CA1464368 rs376477598 |
395 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747560710 CA1464369 |
396 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777079730 CA1464371 |
398 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA344945280 rs762203329 |
399 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1464372 rs762203329 |
399 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1464373 rs770545807 |
400 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1464375 rs755952108 |
402 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558391047 CA344945378 |
403 | E>V | No |
ClinGen Ensembl |
|
|
CA344945425 rs1422521236 |
404 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA344945417 rs1412565013 |
404 | K>T | No |
TOPMed ClinGen |
|
|
rs752517844 CA1464380 |
405 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1464381 rs373712859 |
407 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs142349400 CA1464383 |
409 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39592788 rs377572633 |
410 | E>* | No |
ESP TOPMed ClinGen |
|
|
CA39592792 rs1018910734 |
411 | F>L | No |
gnomAD ClinGen |
|
|
rs1251131237 CA344945637 |
412 | L>F | No |
Ensembl ClinGen |
|
|
rs1324661494 CA344945643 |
412 | L>H | No |
ClinGen gnomAD |
|
|
CA344947508 rs1165672765 |
425 | Y>* | No |
ClinGen gnomAD |
|
|
rs1396356530 CA344947566 |
427 | A>T | No |
ClinGen gnomAD |
|
|
rs1457889342 CA344947790 |
432 | E>D | No |
TOPMed ClinGen |
|
|
CA344947915 rs1572446322 |
435 | T>I | No |
ClinGen Ensembl |
|
|
CA1464416 rs771725945 |
440 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA1464415 rs778133382 |
440 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778133382 CA1464414 |
440 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1182791646 CA344948298 |
446 | L>V | No |
ClinGen gnomAD |
|
|
rs1202987709 CA344949254 |
447 | T>I | No |
gnomAD ClinGen |
|
|
CA39597088 rs550575040 |
450 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1310509339 CA344949391 |
452 | Y>* | No |
gnomAD ClinGen |
|
|
rs1572449368 CA344949382 |
452 | Y>H | No |
Ensembl ClinGen |
|
|
rs1572449377 CA344949387 |
452 | Y>S | No |
Ensembl ClinGen |
|
|
rs1157708466 CA344949425 |
454 | H>R | No |
ClinGen TOPMed |
|
|
rs1451611643 CA344949423 |
454 | H>Y | No |
gnomAD ClinGen |
|
|
rs1194973605 CA344949475 |
456 | L>F | No |
ClinGen gnomAD |
|
|
rs992469074 CA39597102 |
457 | D>G | No |
TOPMed ClinGen |
|
|
CA344949518 rs746647958 |
457 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1464439 rs746647958 |
457 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs768158218 CA344949616 |
460 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs768158218 CA1464440 |
460 | V>D | No |
ExAC gnomAD ClinGen |
|
|
rs1572449444 CA344949626 |
461 | L>R | No |
ClinGen Ensembl |
|
|
CA39597132 rs969760597 |
463 | K>R | No |
ClinGen TOPMed |
|
|
rs1452158703 CA344949711 |
464 | Q>L | No |
ClinGen gnomAD |
|
|
rs114972093 CA1464444 |
466 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344951384 rs1198734905 |
469 | M>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1198734905 CA344951380 |
469 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
rs775747790 CA1464474 |
471 | I>N | No |
ExAC gnomAD ClinGen |
|
|
rs775747790 CA344951449 |
471 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA344951428 rs1195769285 |
471 | I>V | No |
ClinGen gnomAD |
|
|
rs1476424441 CA344951524 |
472 | Q>R | No |
gnomAD ClinGen |
|
|
rs764165783 CA1464477 |
474 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344951667 rs1172654809 |
476 | G>R | No |
gnomAD ClinGen |
|
|
rs377304748 CA1464479 |
477 | L>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750726218 CA1464481 |
479 | S>* | No |
ClinGen ExAC |
|
|
rs138749985 CA1464482 |
480 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137865306 CA1464483 |
480 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1464484 rs752398838 |
481 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs140606727 CA1464485 |
484 | V>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA344951887 rs1572468335 |
484 | V>G | No |
Ensembl ClinGen |
|
|
rs140606727 CA344951871 |
484 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1464487 rs749208716 |
486 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1227321643 CA344951993 |
488 | D>E | No |
gnomAD ClinGen |
|
|
rs1209192659 CA344952012 |
490 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA344952099 rs1488758875 |
492 | S>A | No |
gnomAD ClinGen |
|
|
rs1188549283 CA344952107 |
492 | S>C | No |
ClinGen gnomAD |
|
|
rs1188549283 CA344952103 |
492 | S>Y | No |
gnomAD ClinGen |
|
|
rs1199806424 CA344952155 |
494 | E>G | No |
ClinGen TOPMed |
|
|
rs776965318 CA1464520 |
499 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344952410 rs1303393927 |
499 | P>T | No |
gnomAD ClinGen |
|
|
CA1464522 rs769918946 |
503 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA39602522 rs944601368 |
504 | E>K | No |
ClinGen TOPMed |
|
|
rs763573622 CA1464525 |
508 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001300077 rs768749834 |
508 | D>missing | No |
ClinVar dbSNP |
|
|
CA344952707 rs1467240547 |
509 | L>I | No |
ClinGen gnomAD |
|
|
CA344952745 rs1442654441 |
510 | K>* | No |
ClinGen TOPMed |
|
|
rs1442654441 CA344952740 |
510 | K>E | No |
ClinGen TOPMed |
|
|
CA1464530 rs774822889 |
510 | K>N | No |
ExAC TOPMed ClinGen |
|
|
rs1470356820 CA344952769 |
510 | K>T | No |
gnomAD ClinGen |
|
|
CA1464532 rs763640897 |
513 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753594563 CA1464533 |
513 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA344953037 rs1165259548 |
517 | V>M | No |
ClinGen gnomAD |
|
|
CA344953098 rs1427373624 |
519 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
CA344953181 rs1386125807 |
521 | D>N | No |
ClinGen TOPMed |
|
|
rs1165487843 CA344953218 |
522 | C>Y | No |
ClinGen TOPMed |
|
|
rs1355642274 CA344953282 |
524 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
RCV000593886 rs1553341783 CA344953261 |
524 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1464540 rs780010345 |
525 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1464541 rs746788701 |
526 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344953306 rs140662460 |
526 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781200142 CA1464543 |
527 | W>* | No |
ExAC gnomAD ClinGen |
|
|
CA1464544 rs748411410 |
527 | W>* | No |
ClinGen ExAC |
3 associated diseases with Q15813
[MIM: 241410]: Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS)
An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 244460]: Kenny-Caffey syndrome 1 (KCS1)
An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617207]: Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO)
An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. {ECO:0000269|PubMed:27666369}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. {ECO:0000269|PubMed:27666369}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| adult locomotory behavior | Locomotory behavior in a fully developed and mature organism. |
| developmental growth | The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| muscle atrophy | A process, occurring in the muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. |
| peripheral nervous system neuron axonogenesis | Generation of a long process from a neuron whose cell body resides in the peripheral nervous system. The axon carries action potential from the cell body towards target cells. |
| post-chaperonin tubulin folding pathway | Completion of folding of alpha- and beta-tubulin; takes place subsequent to chaperonin-mediated partial folding; mediated by a complex of folding cofactors. |
| post-embryonic development | The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| tubulin complex assembly | The aggregation and bonding together of alpha- and beta-tubulin to form a tubulin heterodimer. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5FVQ9 | Tbce | Tubulin-specific chaperone E | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDTLTADVI | GRRVEVNGEH | ATVRFAGVVP | PVAGPWLGVE | WDNPERGKHD | GSHEGTVYFK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CRHPTGGSFI | RPNKVNFGTD | FLTAIKNRYV | LEDGPEEDRK | EQIVTIGNKP | VETIGFDSIM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KQQSQLSKLQ | EVSLRNCAVS | CAGEKGGVAE | ACPNIRKVDL | SKNLLSSWDE | VIHIADQLRH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEVLNVSENK | LKFPSGSVLT | GTLSVLKVLV | LNQTGITWAE | VLRCVAGCPG | LEELYLESNN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IFISERPTDV | LQTVKLLDLS | SNQLIDENQL | YLIAHLPRLE | QLILSDTGIS | SLHFPDAGIG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CKTSMFPSLK | YLVVNDNQIS | QWSFFNELEK | LPSLRALSCL | RNPLTKEDKE | AETARLLIIA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SIGQLKTLNK | CEILPEERRR | AELDYRKAFG | NEWKQAGGHK | DPEKNRLSEE | FLTAHPRYQF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LCLKYGAPED | WELKTQQPLM | LKNQLLTLKI | KYPHQLDQKV | LEKQLPGSMT | IQKVKGLLSR |
| 490 | 500 | 510 | 520 | ||
| LLKVPVSDLL | LSYESPKKPG | REIELENDLK | SLQFYSVENG | DCLLVRW |