Q9C0E8
PR
Gene name |
LNPK |
Protein name |
Endoplasmic reticulum junction formation protein lunapark |
Names |
ER junction formation factor lunapark |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80856 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9C0E8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9C0E8-F1 | Predicted | AlphaFoldDB |
332 variants for Q9C0E8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000677383 rs1553498948 |
243 | P>missing | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1401412 rs1391644554 CA349696651 RCV000677384 |
251 | R>* | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
| VAR_081176 | 251 | R>del | NEDEHCC [UniProt] | Yes | UniProt |
|
RCV001090159 rs759257720 |
299 | A>V | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA61301644 rs185936428 |
3 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1475459776 CA349698630 |
4 | L>F | No |
ClinGen TOPMed |
|
|
rs376647514 CA61301643 |
5 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 6 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776415364 COSM390926 CA1976140 |
7 | R>* | lung skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1410861603 CA349698574 |
7 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1410861603 CA349698577 |
7 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1410861603 CA349698578 |
7 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA61301642 rs894609327 |
8 | W>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 9 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349697820 rs1574903190 |
12 | P>R | No |
ClinGen Ensembl |
|
|
rs544046656 CA1976115 |
14 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349697804 rs1309191779 |
15 | V>A | No |
ClinGen gnomAD |
|
|
rs1483923585 CA349697807 |
15 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1976114 rs759946088 |
17 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1976112 rs200516458 |
20 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1019667456 CA61301394 |
21 | I>V | No |
ClinGen gnomAD |
|
|
rs749410153 CA1976111 |
22 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411954003 CA349697686 |
30 | E>D | No |
ClinGen TOPMed |
|
|
rs771503054 COSM1212284 CA1976094 |
30 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1259538839 CA349697675 |
32 | R>T | No |
ClinGen gnomAD |
|
|
CA349697666 rs1346419992 |
33 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1976092 rs773440806 |
34 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61301333 rs77192189 |
35 | N>I | No |
ClinGen Ensembl |
|
| rs1443101323 | 35 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349697653 rs1165652937 |
35 | N>Y | No |
ClinGen TOPMed |
|
|
rs139155854 CA1976091 |
36 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1976090 rs748381807 |
36 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777038146 CA1976089 |
37 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1976088 rs771745762 |
42 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61301332 rs921327239 |
44 | G>E | No |
ClinGen TOPMed |
|
|
rs1246105460 CA349697583 |
45 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349697542 rs1436632461 |
51 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349697541 rs1464111230 |
52 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349697531 rs1324727802 |
53 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349697527 rs1163807600 |
54 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1976084 rs565088365 |
54 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163807600 CA349697526 |
54 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475064337 CA349697513 |
56 | F>S | No |
ClinGen gnomAD |
|
|
rs200211851 CA1976081 |
60 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349697442 rs1159524733 |
66 | L>F | No |
ClinGen gnomAD |
|
|
rs1471869717 CA349697435 |
67 | P>R | No |
ClinGen TOPMed |
|
|
rs1467432972 CA349697396 |
71 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767246204 CA1976080 |
72 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs946067164 CA61301329 |
73 | R>K | No |
ClinGen TOPMed |
|
|
rs1210788034 CA349697365 |
73 | R>S | No |
ClinGen gnomAD |
|
|
rs755259313 CA1976079 |
74 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1976078 rs374339506 |
75 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773927374 CA1976075 |
76 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1976076 rs763540898 |
76 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374215321 CA1976074 |
77 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1181165480 CA349697321 |
77 | T>I | No |
ClinGen gnomAD |
|
|
CA349697330 rs374215321 |
77 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1302874395 CA349697314 |
78 | L>F | No |
ClinGen TOPMed |
|
|
CA349697310 rs1356836970 |
78 | L>R | No |
ClinGen TOPMed |
|
|
COSM109208 CA61301328 rs147938805 |
79 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 81 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 81 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258216352 CA349697255 |
82 | A>S | No |
ClinGen gnomAD |
|
|
CA349697250 rs1198591881 |
82 | A>V | No |
ClinGen gnomAD |
|
|
rs1262570590 CA349697226 |
84 | P>L | No |
ClinGen gnomAD |
|
|
rs768951319 CA1976071 |
84 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1225245321 CA349697203 |
86 | I>S | No |
ClinGen TOPMed |
|
|
rs1275066817 CA349696037 |
87 | I>V | No |
ClinGen gnomAD |
|
|
CA1976056 rs765870175 |
89 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1340874257 CA349695997 |
90 | I>L | No |
ClinGen TOPMed |
|
|
rs1333707132 CA349695994 |
90 | I>T | No |
ClinGen gnomAD |
|
|
rs193157980 CA1976055 |
92 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1976053 rs140451504 |
93 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1976051 rs760935143 |
97 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 104 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349695817 rs1157908754 |
105 | N>D | No |
ClinGen gnomAD |
|
|
CA1976048 rs770682410 |
105 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1976036 rs757850404 |
106 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757850404 CA349695770 |
106 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349695749 rs1483959121 |
109 | L>S | No |
ClinGen gnomAD |
|
|
rs764226218 CA1976034 |
111 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1976033 rs760707577 |
112 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752941689 CA1976032 |
114 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1457574551 CA349695710 |
115 | Q>E | No |
ClinGen TOPMed |
|
|
rs1553505394 CA349695707 |
115 | Q>R | No |
ClinGen Ensembl |
|
|
CA1976030 rs762695094 |
117 | K>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 119 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751846233 CA1976012 |
129 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761566230 CA1976010 |
130 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1976009 rs776586339 |
131 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1976007 rs760167909 |
131 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1976008 rs760167909 |
131 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391435173 CA349695097 |
138 | R>M | No |
ClinGen gnomAD |
|
|
CA349695088 rs1302138921 |
139 | F>L | No |
ClinGen TOPMed |
|
|
rs771763415 CA1976005 |
141 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349695051 rs1192777480 |
142 | D>G | No |
ClinGen gnomAD |
|
|
rs1251086115 CA349695054 |
142 | D>Y | No |
ClinGen TOPMed |
|
|
rs1423992902 CA349695042 |
143 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1976003 rs558839080 |
146 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1250707903 CA349695005 |
146 | A>V | No |
ClinGen gnomAD |
|
|
rs1179713844 CA349694959 |
148 | E>V | No |
ClinGen gnomAD |
|
|
CA1975994 rs143322779 |
149 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1975993 rs147972945 |
151 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1047317430 CA349694916 |
152 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1047317430 CA61298367 |
152 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753583261 CA1975991 COSM1691410 |
152 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1294155682 CA349694911 |
153 | S>P | No |
ClinGen TOPMed |
|
|
CA1975990 rs764037220 |
154 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760514072 CA1975989 |
155 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1975986 rs759163033 |
156 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975987 rs759163033 |
156 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975988 rs775632788 |
156 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559051905 CA349694872 |
158 | V>I | No |
ClinGen Ensembl |
|
|
CA1975984 rs34897061 |
159 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749598231 CA1975983 |
160 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975982 rs374292322 |
163 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349694824 rs1362840942 |
163 | G>R | No |
ClinGen gnomAD |
|
|
rs533299897 CA1975959 |
166 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs962457137 CA61296521 |
167 | R>C | No |
ClinGen gnomAD |
|
|
rs1269207653 CA349698972 |
167 | R>H | No |
ClinGen gnomAD |
|
|
rs1488780033 CA349698967 |
168 | Q>* | No |
ClinGen TOPMed |
|
|
CA61296520 rs1048367054 |
173 | Q>L | No |
ClinGen TOPMed |
|
|
CA61296518 rs151239204 |
176 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1975957 rs747035664 |
178 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747035664 CA349698904 |
178 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975956 rs779987478 |
179 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61296517 rs142702528 |
180 | P>L | No |
ClinGen ESP |
|
|
rs772257632 CA1975955 |
182 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA349698873 rs1294987121 |
183 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349698874 rs1294987121 |
183 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746044990 CA1975954 |
183 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1975953 rs779241177 |
184 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs755920455 CA1975952 |
185 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322714729 CA349698855 |
186 | G>D | No |
ClinGen gnomAD |
|
|
CA1975951 COSM1722149 rs752570730 |
188 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1975950 rs781207457 |
189 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs943604743 CA61296516 |
193 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM571282 rs943604743 CA349698795 |
193 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs755026200 CA61296515 |
195 | P>T | No |
ClinGen Ensembl |
|
|
CA61296514 rs910915146 |
197 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1975947 rs751570815 |
199 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384982391 CA349698664 |
201 | S>G | No |
ClinGen TOPMed |
|
|
CA349698614 rs1237686230 |
202 | S>C | No |
ClinGen TOPMed |
|
|
CA349698582 rs1198686323 |
204 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA349698585 rs1198686323 |
204 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349698552 rs1450166440 |
205 | G>A | No |
ClinGen gnomAD |
|
|
rs978369246 CA61296513 |
205 | G>R | No |
ClinGen TOPMed |
|
|
rs1292660202 CA349698549 |
206 | G>R | No |
ClinGen gnomAD |
|
|
CA349698540 rs1241394082 |
206 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA349698524 rs1342034370 |
207 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762575170 CA1975944 |
207 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200775034 CA1975943 |
208 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764975313 CA349698504 |
208 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764975313 CA1975942 |
208 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1273807834 CA349698454 |
210 | R>K | No |
ClinGen gnomAD |
|
|
CA349698422 rs1332560692 |
212 | V>L | No |
ClinGen gnomAD |
|
|
rs1324165706 CA349698396 |
213 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1324165706 CA349698398 |
213 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776998407 CA1975939 |
214 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559777495 CA1975936 |
215 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1975938 rs769071230 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs559777495 CA1975937 |
215 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1574829700 CA349698317 |
219 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747893191 CA61296512 |
223 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781121123 CA1975930 |
227 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780064628 CA1975927 |
228 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780064628 CA349698194 |
228 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147224445 CA1975928 |
228 | P>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1271736782 CA349698174 |
230 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs544085332 CA349698156 |
232 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs544085332 CA61296511 |
232 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1022085350 CA61296510 |
235 | M>L | No |
ClinGen Ensembl |
|
|
CA1975926 rs757807998 |
235 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434389975 CA349696735 |
236 | G>D | No |
ClinGen TOPMed |
|
|
CA61295752 rs975281873 |
239 | P>L | No |
ClinGen Ensembl |
|
|
rs1292663407 CA349696718 |
239 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA61295751 rs963950497 |
240 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1227752249 CA349696711 |
240 | P>S | No |
ClinGen gnomAD |
|
|
CA349696708 rs1389689070 |
241 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371167193 CA1975904 |
243 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA61295750 rs989588575 |
245 | A>G | No |
ClinGen Ensembl |
|
|
CA1975903 rs753462116 |
247 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1975902 rs763756428 |
247 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA349696672 rs753462116 |
247 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201848822 CA1975901 |
248 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349696660 rs1366716526 |
249 | L>F | No |
ClinGen gnomAD |
|
|
CA61295749 rs913086884 |
249 | L>R | No |
ClinGen TOPMed |
|
|
COSM1401411 rs1170644434 CA349696649 |
251 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1975898 rs760073880 |
253 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775063899 CA1975897 |
253 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA349696623 rs1490481494 |
256 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192688154 CA349696605 |
258 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766545501 COSM1401410 CA1975896 |
262 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766545501 CA349696576 |
262 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA349696568 rs1574814234 |
263 | L>F | No |
ClinGen Ensembl |
|
|
rs763148256 CA1975895 |
263 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349696566 rs1204534874 |
264 | V>L | No |
ClinGen gnomAD |
|
|
CA1975894 rs773530740 |
266 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs537138957 CA1975874 |
272 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349696478 rs1394945315 |
275 | I>K | No |
ClinGen gnomAD |
|
|
CA349696481 rs1360014005 |
275 | I>L | No |
ClinGen TOPMed |
|
|
CA349696477 rs1394945315 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA349696437 rs1213145642 |
280 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | H>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304165610 CA349696416 |
283 | N>T | No |
ClinGen gnomAD |
|
|
rs762094655 CA1975873 |
286 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473560916 CA349696355 |
291 | F>L | No |
ClinGen gnomAD |
|
|
rs1364305988 CA349696346 |
292 | E>D | No |
ClinGen gnomAD |
|
|
CA1975870 rs202093629 |
294 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145623801 CA1975871 |
294 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349696311 rs1449045218 |
296 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1009817 CA1975855 rs754039320 |
297 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 297 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 297 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349696305 rs1354824879 |
297 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1975854 rs764249318 |
298 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1473449992 CA349696299 |
298 | C>Y | No |
ClinGen TOPMed |
|
|
rs759257720 CA1975853 |
299 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA61295551 rs1047835794 |
299 | A>T | No |
ClinGen TOPMed |
|
|
rs770768520 CA1975851 |
300 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1294870830 CA349696277 |
301 | C>W | No |
ClinGen gnomAD |
|
|
rs1432665364 CA349696267 |
303 | F>L | No |
ClinGen gnomAD |
|
|
CA349696264 rs1326765070 |
303 | F>S | No |
ClinGen gnomAD |
|
|
rs1574810087 CA349696249 |
305 | N>S | No |
ClinGen Ensembl |
|
|
CA349696243 rs1385054527 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA349696237 rs1425307965 |
307 | A>E | No |
ClinGen gnomAD |
|
|
CA61295550 rs1008832394 |
307 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349696212 rs1476614059 |
310 | T>I | No |
ClinGen gnomAD |
|
|
CA1975848 rs568552587 |
313 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374033032 CA349696198 |
313 | Q>K | No |
ClinGen gnomAD |
|
|
CA1975849 rs139043546 |
313 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349696187 rs1353294699 |
314 | A>V | No |
ClinGen TOPMed |
|
|
rs1271680237 CA349696185 |
315 | P>A | No |
ClinGen gnomAD |
|
|
rs1222600921 CA349696165 |
318 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010947172 CA61295548 |
324 | K>R | No |
ClinGen TOPMed |
|
|
rs200017613 CA1975845 |
327 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA349696090 rs1274085505 |
328 | V>G | No |
ClinGen gnomAD |
|
|
rs780565202 CA1975843 |
328 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349696085 rs1574809827 |
329 | E>G | No |
ClinGen Ensembl |
|
|
rs758877994 CA1975842 |
330 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA61295546 rs1040316125 |
334 | V>A | No |
ClinGen Ensembl |
|
|
CA61295547 rs901853053 |
334 | V>I | No |
ClinGen TOPMed |
|
|
CA1975841 rs746360310 |
335 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1975840 rs201325808 |
336 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349696033 rs201325808 |
336 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975838 rs753864965 |
338 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411915065 CA349695983 |
339 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000004733 CA61295545 |
341 | S>G | No |
ClinGen TOPMed |
|
|
rs766130188 CA1975834 |
343 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762785151 CA1975833 |
347 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776673935 CA1975809 |
356 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1975807 rs760288750 |
357 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1975806 rs775239596 |
359 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349695615 rs775239596 |
359 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1975804 rs746183158 |
360 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs372987698 CA1975805 |
360 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 360 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361863849 CA349695600 |
361 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200004230 CA349695591 |
362 | N>I | No |
ClinGen TOPMed |
|
|
CA349695579 rs1426449171 |
364 | E>G | No |
ClinGen TOPMed |
|
|
CA1975803 rs774562806 |
364 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055611853 CA61294767 |
366 | T>R | No |
ClinGen TOPMed |
|
|
CA349695555 rs1559020129 |
367 | D>E | No |
ClinGen Ensembl |
|
|
CA349695558 rs1360265226 |
367 | D>G | No |
ClinGen gnomAD |
|
|
CA349695542 rs1290970740 |
369 | K>R | No |
ClinGen gnomAD |
|
|
rs1349801010 CA349695533 |
370 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1975801 rs771391018 |
370 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749725621 CA1975799 |
371 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA349695532 rs749725621 |
371 | P>T | No |
ClinGen ExAC TOPMed |
|
|
rs1300818342 CA349695525 |
372 | A>S | No |
ClinGen gnomAD |
|
|
rs778300949 CA1975798 |
374 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA349695507 rs1385489203 |
375 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1385489203 CA349695508 |
375 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1975797 rs138584031 |
379 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1975796 rs748231677 |
380 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349695465 rs1360324171 |
381 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349695446 rs1421450424 |
383 | A>V | No |
ClinGen gnomAD |
|
|
CA349695442 rs1488152654 |
384 | S>A | No |
ClinGen gnomAD |
|
|
CA349695433 rs1266599791 |
384 | S>F | No |
ClinGen gnomAD |
|
|
rs1488152654 CA349695445 |
384 | S>P | No |
ClinGen gnomAD |
|
|
CA349695414 rs1220363904 |
385 | D>E | No |
ClinGen gnomAD |
|
|
rs1292821846 CA349695320 |
389 | P>R | No |
ClinGen gnomAD |
|
|
rs11546841 CA61294766 |
390 | E>* | No |
ClinGen Ensembl |
|
|
rs376821621 CA1975793 |
391 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1975791 rs757127421 |
392 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA349695192 rs1367525929 |
393 | Q>R | No |
ClinGen gnomAD |
|
|
rs903350552 CA61294765 |
395 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA349695150 rs1439062060 |
395 | T>I | No |
ClinGen gnomAD |
|
|
rs538190852 CA1975788 |
396 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267083026 CA349695094 |
398 | E>V | No |
ClinGen TOPMed |
|
|
rs571103855 CA1975787 |
400 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 400 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146148030 CA1975786 |
401 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432323598 CA349695025 |
402 | V>A | No |
ClinGen gnomAD |
|
|
CA1975784 rs774091025 |
403 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181936075 CA349694980 |
405 | T>A | No |
ClinGen TOPMed |
|
|
rs552402499 CA1975782 |
406 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1975781 rs773669307 |
408 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs908780802 CA61294763 |
409 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1975780 rs770298552 |
410 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1975779 rs748712352 |
411 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA61294762 rs1056031165 |
413 | D>H | No |
ClinGen Ensembl |
|
|
rs781246068 CA1975778 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs142985661 CA1975775 |
418 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142985661 CA1975776 |
418 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349694788 rs1261622523 |
418 | P>S | No |
ClinGen gnomAD |
|
|
CA349694784 rs1346678447 |
419 | E>* | No |
ClinGen gnomAD |
|
|
rs1389109000 COSM1194638 CA349694769 |
421 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA349694756 rs1465384695 |
423 | E>G | No |
ClinGen gnomAD |
|
|
rs753685427 CA1975772 |
423 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA349694759 rs753685427 |
423 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1975771 rs148944808 |
426 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766903432 CA1975768 |
428 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138723587 CA1975769 |
428 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs919056720 CA61294760 |
429 | E>Q | No |
ClinGen Ensembl |
|
|
CA61294759 rs775714513 |
429 | E>W | No |
ClinGen Ensembl |
|
|
CA1975767 rs759133509 |
429 | E>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9C0E8
[MIM: 618090]: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum (NEDEHCC)
An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy. {ECO:0000269|PubMed:30032983}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy. {ECO:0000269|PubMed:30032983}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9C0E8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Lunapark domain | 256 - 305 | IPR019273 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum tubular network | A subcompartment of the endoplasmic reticulum consisting of tubules having membranes with high curvature in cross-section. |
| endoplasmic reticulum tubular network membrane | The membrane of the endoplasmic reticulum tubular network. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| embryonic forelimb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human. |
| endoplasmic reticulum organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum. |
| endoplasmic reticulum tubular network maintenance | The organization process that preserves the endoplasmic reticulum (ER) tubular network in a stable functional or structural state. The ER tubular network is the ER part that comprises the membranes with high curvature in cross-section. |
| endoplasmic reticulum tubular network organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum (ER) tubular network. The ER tubular network is the ER part that that has membranes with high curvature in cross-section. |
| limb development | The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. |
| positive regulation of endoplasmic reticulum tubular network organization | Any process that activates or increases the frequency, rate or extent of endoplasmic reticulum tubular network organization. |
| regulation of chondrocyte differentiation | Any process that modulates the frequency, rate or extent of chondrocyte differentiation. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGGLFSRWRT | KPSTVEVLES | IDKEIQALEE | FREKNQRLQK | LWVGRLILYS | SVLYLFTCLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYLWYLPDEF | TARLAMTLPF | FAFPLIIWSI | RTVIIFFFSK | RTERNNEALD | DLKSQRKKIL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEVMEKETYK | TAKLILERFD | PDSKKAKECE | PPSAGAAVTA | RPGQEIRQRT | AAQRNLSPTP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ASPNQGPPPQ | VPVSPGPPKD | SSAPGGPPER | TVTPALSSNV | LPRHLGSPAT | SVPGMGLHPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPPLARPILP | RERGALDRIV | EYLVGDGPQN | RYALICQQCF | SHNGMALKEE | FEYIAFRCAY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CFFLNPARKT | RPQAPRLPEF | SFEKRQVVEG | SSSVGPLPSG | SVLSSDNQFN | EESLEHDVLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DNTEQTDDKI | PATEQTNQVI | EKASDSEEPE | EKQETENEEA | SVIETNSTVP | GADSIPDPEL |
| SGESLTAE |