C9J6K1
Gene name |
C19orf81 |
Protein name |
Putative uncharacterized protein C19orf81 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:342918 |
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 C9J6K1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-C9J6K1-F1 | Predicted | AlphaFoldDB |
194 variants for C9J6K1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs576562572 CA406989257 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs576562572 CA309615274 |
5 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1181743515 CA406989297 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs866422546 CA309615279 |
8 | V>A | No |
ClinGen TOPMed |
|
|
CA309615277 rs893184611 |
8 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406989302 rs893184611 |
8 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA309615284 rs775646984 |
13 | M>L | No |
ClinGen Ensembl |
|
|
rs1010321930 CA309615287 |
13 | M>T | No |
ClinGen gnomAD |
|
|
rs1462350556 CA406989459 |
16 | P>L | No |
ClinGen gnomAD |
|
|
rs1050467280 CA309615289 |
16 | P>S | No |
ClinGen TOPMed |
|
|
rs375741176 CA309615290 |
17 | T>I | No |
ClinGen Ensembl |
|
|
rs780829258 CA9600706 CA309615294 |
18 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433956835 CA406989492 |
18 | M>T | No |
ClinGen TOPMed |
|
|
CA406989524 rs1421988997 |
19 | H>Q | No |
ClinGen gnomAD |
|
|
CA9600707 rs748175897 |
19 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769851402 CA9600708 |
21 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1599826482 CA406989564 |
22 | A>E | No |
ClinGen Ensembl |
|
|
rs1479036211 CA406990601 |
23 | G>E | No |
ClinGen gnomAD |
|
|
CA406990614 rs1424768203 |
24 | A>D | No |
ClinGen gnomAD |
|
|
rs887436354 CA406990608 |
24 | A>P | No |
ClinGen gnomAD |
|
|
CA309617201 rs887436354 |
24 | A>S | No |
ClinGen gnomAD |
|
|
rs887436354 CA406990607 |
24 | A>T | No |
ClinGen gnomAD |
|
|
CA406990610 rs1424768203 |
24 | A>V | No |
ClinGen gnomAD |
|
|
CA309617204 rs542605854 |
27 | M>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1036511187 CA309617207 |
28 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1258935569 CA406990680 |
29 | L>P | No |
ClinGen TOPMed |
|
|
rs765677846 CA9600717 |
30 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs192383921 CA309617212 |
31 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA406990720 rs192383921 |
31 | T>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1419688962 CA406990724 |
32 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406990750 rs1464553855 |
33 | E>G | No |
ClinGen TOPMed |
|
|
rs1189175389 CA406990809 |
35 | M>I | No |
ClinGen gnomAD |
|
|
rs1366947045 CA406990822 |
36 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1436530363 CA406990835 |
36 | Q>H | No |
ClinGen gnomAD |
|
|
CA406990818 rs1366947045 |
36 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406990845 rs1257264275 |
37 | A>P | No |
ClinGen gnomAD |
|
|
CA9600719 rs185628472 |
38 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs558403135 CA9600718 |
38 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540911652 CA9600720 |
39 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406990905 rs1282176261 |
40 | L>R | No |
ClinGen TOPMed |
|
|
rs1237931324 CA406990987 |
44 | I>V | No |
ClinGen gnomAD |
|
|
rs778504965 CA309617228 |
45 | K>R | No |
ClinGen Ensembl |
|
|
rs1007445473 CA309617231 |
47 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 47 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530632779 CA309617241 |
52 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA406991210 rs1353350473 |
52 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406991259 rs1599829521 |
54 | V>G | No |
ClinGen Ensembl |
|
|
rs117025012 CA9600726 |
54 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177182398 CA406991264 |
55 | I>V | No |
ClinGen gnomAD |
|
|
rs959581840 CA309617246 |
59 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406991358 rs1226861586 |
59 | E>V | No |
ClinGen gnomAD |
|
|
rs1411058885 CA406991442 |
62 | D>G | No |
ClinGen gnomAD |
|
|
CA309617251 rs908824661 |
63 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA309617254 rs940324471 |
63 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1399123260 CA406991506 |
64 | E>G | No |
ClinGen gnomAD |
|
|
CA406991489 rs1364412327 |
64 | E>K | No |
ClinGen TOPMed |
|
|
rs991076028 CA309617256 |
65 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs991076028 CA406991519 |
65 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406991557 rs1335945274 |
66 | P>L | No |
ClinGen gnomAD |
|
|
rs749206263 CA9600727 |
67 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA406991590 rs1377117135 |
68 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1258737240 CA406991613 |
69 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs144243088 CA9600728 |
69 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1196909390 CA406991690 |
72 | P>R | No |
ClinGen gnomAD |
|
|
rs4801844 CA9600729 |
77 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs4801844 CA406991766 |
77 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406991811 rs1236267677 |
79 | P>L | No |
ClinGen gnomAD |
|
|
rs933065966 CA309617263 |
79 | P>S | No |
ClinGen gnomAD |
|
|
CA406991800 rs933065966 |
79 | P>T | No |
ClinGen gnomAD |
|
|
CA309617268 rs924409330 |
81 | C>* | No |
ClinGen TOPMed |
|
|
rs148726014 CA309617271 |
84 | M>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1422206797 CA406991886 |
85 | E>K | No |
ClinGen gnomAD |
|
|
rs1463800179 CA406991905 |
86 | T>A | No |
ClinGen gnomAD |
|
|
CA9600735 rs773751385 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1420302321 CA406992366 |
90 | E>K | No |
ClinGen gnomAD |
|
|
CA406992387 rs1270031961 |
91 | D>G | No |
ClinGen TOPMed |
|
|
CA309617748 rs1027850544 |
91 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766503302 CA9600737 |
93 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331916551 CA406992484 |
98 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1331916551 CA406992486 |
98 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406992525 rs1024031878 |
100 | A>D | No |
ClinGen gnomAD |
|
|
CA309617754 rs1024031878 |
100 | A>V | No |
ClinGen gnomAD |
|
|
CA9600739 rs759810149 |
104 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA406992619 rs1568422081 |
106 | P>L | No |
ClinGen Ensembl |
|
|
rs1211131965 CA406992636 |
108 | A>T | No |
ClinGen gnomAD |
|
|
rs575466887 CA309617762 |
109 | M>I | No |
ClinGen 1000Genomes |
|
|
CA309617760 rs748546582 |
109 | M>T | No |
ClinGen gnomAD |
|
|
rs113399266 CA9600740 |
109 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406992667 rs1283651855 |
110 | E>K | No |
ClinGen TOPMed |
|
|
CA309617766 rs867833546 |
111 | S>T | No |
ClinGen Ensembl |
|
|
CA406992722 rs1394190188 |
112 | G>E | No |
ClinGen TOPMed |
|
|
CA406992711 rs1450688791 |
112 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9600741 rs536402359 |
113 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554798671 CA9600742 |
113 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs916582222 CA309617776 |
115 | S>R | No |
ClinGen TOPMed |
|
|
CA406992778 rs1440052328 |
116 | S>C | No |
ClinGen gnomAD |
|
|
CA406992776 rs1440052328 |
116 | S>G | No |
ClinGen gnomAD |
|
|
CA406992822 rs1157785829 |
117 | I>N | No |
ClinGen gnomAD |
|
|
rs1378431982 CA406992837 |
118 | R>C | No |
ClinGen gnomAD |
|
|
CA406992842 rs777688296 |
118 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777688296 CA9600743 |
118 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600744 rs753884072 |
120 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA309617783 rs1051165815 |
120 | E>D | No |
ClinGen Ensembl |
|
|
rs753884072 CA406992872 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9600745 rs573114045 |
121 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9600746 rs778486214 |
122 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA406992928 rs1393253220 CA406992920 |
122 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1451024992 CA406992933 |
122 | M>T | No |
ClinGen Ensembl |
|
|
rs942820982 CA309617790 |
124 | V>I | No |
ClinGen gnomAD |
|
|
CA406993013 rs1261316931 |
125 | I>M | No |
ClinGen TOPMed |
|
|
CA309617796 rs925383821 |
125 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406993056 rs1308917823 |
127 | G>E | No |
ClinGen gnomAD |
|
|
CA9600747 rs745311338 |
128 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247536197 CA406993085 |
129 | A>T | No |
ClinGen gnomAD |
|
|
CA406993099 rs1159657338 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA309617802 rs1043922253 |
130 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs540313417 CA9600749 |
131 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558395868 CA9600750 |
132 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1053002170 CA309617805 |
132 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406993156 rs1457895447 |
133 | N>D | No |
ClinGen gnomAD |
|
|
rs1177788313 CA406993166 |
133 | N>K | No |
ClinGen gnomAD |
|
|
rs1236064956 CA406993176 |
134 | R>L | No |
ClinGen gnomAD |
|
|
CA309617807 rs944254593 |
134 | R>W | No |
ClinGen TOPMed |
|
|
CA406994025 rs1388427908 |
136 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs576875269 CA9600752 |
137 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185910805 CA406994087 |
140 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406994106 rs1478308231 |
141 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406994110 rs1170221127 |
142 | F>L | No |
ClinGen gnomAD |
|
|
rs1018230174 CA309618044 |
144 | T>A | No |
ClinGen Ensembl |
|
|
rs964029025 CA309618047 |
144 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467872749 CA406994175 |
146 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406994178 rs1467872749 |
146 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406994186 rs1378560973 |
147 | R>C | No |
ClinGen TOPMed |
|
|
CA406994189 rs1178930503 |
147 | R>H | No |
ClinGen TOPMed |
|
|
rs979470681 CA406994225 |
150 | R>C | No |
ClinGen gnomAD |
|
|
rs1279618855 CA406994227 |
150 | R>H | No |
ClinGen gnomAD |
|
|
CA309618053 rs979470681 |
150 | R>S | No |
ClinGen gnomAD |
|
|
CA406994236 rs1417815260 |
152 | G>R | No |
ClinGen TOPMed |
|
|
rs1292963340 CA406994258 |
154 | S>G | No |
ClinGen gnomAD |
|
|
CA406994263 rs1313550997 |
154 | S>N | No |
ClinGen gnomAD |
|
|
rs1210579849 CA406994280 |
155 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406994275 rs1210579849 |
155 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406994315 rs1179278618 |
157 | G>E | No |
ClinGen TOPMed |
|
|
CA406994303 rs1255134364 |
157 | G>R | No |
ClinGen gnomAD |
|
|
rs774504933 CA9600755 |
160 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406994351 rs1203259810 |
160 | H>Y | No |
ClinGen TOPMed |
|
|
CA309618060 rs1032818133 |
161 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA309618065 rs563701623 |
162 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA406994394 rs1315006953 |
162 | I>T | No |
ClinGen TOPMed |
|
|
rs1235367688 CA406994384 |
162 | I>V | No |
ClinGen TOPMed |
|
|
CA9600756 rs759492228 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767601758 CA9600757 |
165 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406994443 rs1435069671 |
165 | H>Q | No |
ClinGen gnomAD |
|
|
rs767601758 CA309618069 |
165 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177251657 CA406994460 |
166 | D>E | No |
ClinGen gnomAD |
|
|
rs1599831243 CA406994470 |
167 | D>A | No |
ClinGen Ensembl |
|
|
rs549756528 CA309618072 |
167 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406994468 rs549756528 |
167 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA309618074 rs549756528 |
167 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM3357188 CA406994526 rs1360655871 |
171 | G>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1300564726 CA406994521 |
171 | G>R | No |
ClinGen gnomAD |
|
|
CA309618077 rs1028908851 |
172 | D>Y | No |
ClinGen TOPMed |
|
|
rs1599831264 CA406994560 |
173 | Y>S | No |
ClinGen Ensembl |
|
|
rs752910483 CA309618079 |
174 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752910483 CA309618084 |
174 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309618085 rs760965435 |
174 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760965435 CA9600759 |
174 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752910483 CA9600758 |
174 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406994606 rs1462161507 |
176 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA406994613 rs1183268143 |
177 | L>M | No |
ClinGen TOPMed |
|
|
rs1443175667 CA406994630 |
178 | R>C | No |
ClinGen TOPMed |
|
|
rs755959661 CA309618086 |
179 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908818056 CA406994664 |
182 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs908818056 CA309618087 |
182 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA309618088 rs949577078 |
183 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1444410571 CA406994672 |
184 | R>G | No |
ClinGen gnomAD |
|
|
CA406994675 rs1215173706 |
184 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406994679 rs1489628154 |
185 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406994701 rs1452923418 |
188 | E>Q | No |
ClinGen gnomAD |
|
|
rs377132289 CA9600761 |
189 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1400581788 CA406994749 |
191 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1390082492 CA406994752 |
192 | A>T | No |
ClinGen gnomAD |
|
|
rs1599831337 CA406994761 |
192 | A>V | No |
ClinGen Ensembl |
|
|
CA309618099 rs926890870 |
193 | E>G | No |
ClinGen TOPMed |
|
|
CA406994788 rs1243652325 |
194 | P>A | No |
ClinGen TOPMed |
|
|
rs936977545 CA309618102 |
197 | E>K | No |
ClinGen Ensembl |
|
|
rs898203923 CA309618119 |
199 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA309618116 rs898203923 |
199 | A>R | No |
ClinGen TOPMed gnomAD |
No associated diseases with C9J6K1
No regional properties for C9J6K1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for C9J6K1 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQPEVEPVCF | PAMGSPTMHR | KAGALLMDLE | TPEEMQARSL | GRPIKSSKQY | LRQVIAEYEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDRELPCIRK | FPTPPASQPL | CLCMETLPEE | DFTHLEVLQA | LEAQLPGAME | SGRVSSIRFE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NMNVICGTAG | RRNRWLIAVT | DFQTRSRLLR | SGLSPRGLAH | QIVRHDDLLL | GDYRLHLRRS |
| 190 | |||||
| LVRRRMLEAL | GAEPNEEA |