Q4G1C9
PR
Gene name |
GLIPR1L2 |
Protein name |
GLIPR1-like protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:144321 |
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 Q4G1C9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q4G1C9-F1 | Predicted | AlphaFoldDB |
331 variants for Q4G1C9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA385793302 rs780961274 |
2 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs780961274 CA6692181 |
2 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA239270343 rs1042607141 |
3 | A>D | No |
ClinGen Ensembl |
|
|
CA6692182 rs375758674 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239270347 rs1042607141 |
3 | A>V | No |
ClinGen Ensembl |
|
|
rs748704522 CA6692185 |
4 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748704522 CA239270358 |
4 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368593598 CA6692184 |
4 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778332182 CA6692187 |
5 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370901558 CA6692189 |
5 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6692188 rs778332182 |
5 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761145902 CA6692191 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385793327 rs1477739221 CA385793326 |
7 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1017221362 CA385793332 |
8 | A>G | No |
ClinGen gnomAD |
|
|
rs1192147038 CA385793330 |
8 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017221362 CA239270399 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA6692195 rs376300383 |
9 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692196 rs376300383 |
9 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762277575 CA6692194 |
9 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs142881216 CA6692198 |
11 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1296325199 CA385793352 |
12 | R>G | No |
ClinGen gnomAD |
|
|
CA6692199 CA385793356 rs752439276 |
12 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755932910 CA6692200 |
13 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755932910 CA6692201 |
13 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6692202 rs753788773 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218320659 CA385793371 |
15 | S>F | No |
ClinGen gnomAD |
|
|
rs370742897 CA6692205 |
17 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370742897 CA385793381 |
17 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692204 rs533559197 |
17 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs771804298 CA239270473 |
18 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771804298 CA6692206 |
18 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243788629 CA385793388 |
19 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779886245 CA6692207 |
21 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385793405 rs1485169630 |
22 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385793411 rs1593988153 |
23 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 23 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990445943 CA239270499 |
24 | L>W | No |
ClinGen Ensembl |
|
|
rs1477224485 CA385793420 |
25 | K>Q | No |
ClinGen gnomAD |
|
|
rs915192504 CA239270503 |
25 | K>R | No |
ClinGen Ensembl |
|
|
rs1381134225 CA385793435 |
27 | R>L | No |
ClinGen gnomAD |
|
|
rs769121895 CA6692211 |
27 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs762376976 CA6692213 |
28 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs547320911 CA6692214 |
29 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385793459 rs1313443919 |
31 | L>R | No |
ClinGen TOPMed |
|
|
CA6692215 rs140903731 |
32 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6692218 rs751746189 |
34 | L>M | Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759799456 CA6692219 |
34 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs115042430 CA6692221 |
36 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 36 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6692222 rs200810673 |
38 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385793500 rs1593988367 |
39 | S>N | No |
ClinGen Ensembl |
|
|
rs1292613280 CA385793517 CA385793518 |
41 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6692223 rs765113603 |
41 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs371840881 CA239270562 |
43 | R>K | No |
ClinGen ESP |
|
|
CA385793528 rs371840881 |
43 | R>T | No |
ClinGen ESP |
|
|
rs1221285949 CA385793535 |
44 | F>C | No |
ClinGen gnomAD |
|
|
rs749911675 CA6692224 |
44 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs867208949 CA239270567 |
46 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs147955741 CA239270573 |
47 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902364775 CA239270582 |
48 | E>D | No |
ClinGen gnomAD |
|
|
CA385793559 rs1364707539 |
48 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746648550 CA6692227 |
50 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs781553265 CA6692229 |
51 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692228 rs146467128 |
51 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385793586 rs1411532135 |
52 | D>A | No |
ClinGen gnomAD |
|
|
rs889855965 CA239270607 |
55 | N>K | No |
ClinGen TOPMed |
|
|
CA6692231 rs770286830 |
56 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239270620 rs770286830 |
56 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692232 rs773621549 |
57 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692234 rs770973058 |
61 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6692235 rs774469513 |
62 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759746035 CA6692236 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs369887104 CA239270665 |
64 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692239 rs116411652 |
65 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6692241 rs116411652 |
65 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6692240 rs116411652 |
65 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239270676 rs1006934884 |
66 | G>S | No |
ClinGen Ensembl |
|
|
CA385793682 rs1226278985 |
67 | D>G | No |
ClinGen TOPMed |
|
|
CA6692243 rs765984258 |
70 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6692244 rs765984258 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6692246 rs781325607 |
71 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692245 rs781325607 |
71 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6692247 rs143507828 |
72 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137957961 CA6692248 |
73 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137957961 CA385793711 |
73 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778246921 CA6692249 |
76 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425564079 CA385793733 |
76 | R>H | No |
ClinGen gnomAD |
|
|
CA6692251 rs771490137 |
77 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750209249 CA6692255 |
78 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745972832 CA385793744 |
78 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692254 rs750209249 |
78 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM123377 CA6692253 rs745972832 |
78 | M>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1594014058 CA385793775 |
80 | W>C | No |
ClinGen Ensembl |
|
|
CA385793769 rs1462063432 |
80 | W>R | No |
ClinGen TOPMed |
|
|
CA385793784 rs1312265799 |
81 | D>E | No |
ClinGen gnomAD |
|
|
CA385793781 rs1358007977 |
81 | D>G | No |
ClinGen TOPMed |
|
|
CA385793787 rs1361090008 |
82 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773140893 CA239281025 |
83 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773140893 CA6692304 |
83 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774801554 CA6692305 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1370750425 CA385793797 |
84 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6692307 rs763638046 |
86 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142539769 CA6692306 |
86 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692308 rs776247147 |
88 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761514357 CA6692309 |
89 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385793824 rs761514357 |
89 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385793829 rs1488916009 |
90 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219379747 CA385793836 |
91 | W>* | No |
ClinGen gnomAD |
|
|
CA385793840 rs1431259985 |
91 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs144818804 CA6692310 |
92 | G>A | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 92 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540580232 CA6692313 |
93 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239281082 rs904788137 |
93 | K>R | No |
ClinGen TOPMed |
|
|
rs904788137 CA385793849 |
93 | K>T | No |
ClinGen TOPMed |
|
|
rs758774592 CA6692315 |
95 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs376778122 COSM2102432 COSM2102431 CA6692316 |
98 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6692319 rs781468774 |
99 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1011298091 CA239281143 |
100 | N>D | No |
ClinGen Ensembl |
|
|
rs770555542 CA239281150 |
100 | N>S | No |
ClinGen Ensembl |
|
|
CA6692320 rs748365794 |
102 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6692321 rs756468887 |
103 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA385793936 rs1308703377 |
105 | D>E | No |
ClinGen TOPMed |
|
|
rs114490304 CA385793934 |
105 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114490304 CA6692322 |
105 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202217718 CA239281164 |
107 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs771852210 CA6692324 |
108 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA239281168 rs998760195 |
108 | M>R | No |
ClinGen Ensembl |
|
|
rs1310602169 CA385793961 |
109 | V>A | No |
ClinGen TOPMed |
|
|
CA6692325 rs775470257 |
110 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385793971 rs1594014326 |
111 | P>A | No |
ClinGen Ensembl |
|
|
rs150816381 CA6692326 |
112 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA239281193 TCGA novel rs954587676 |
113 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA6692327 rs768144760 |
115 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA239281201 rs550898972 |
117 | G>A | No |
ClinGen 1000Genomes |
|
|
CA385794015 rs1157920841 |
118 | E>K | No |
ClinGen TOPMed |
|
|
CA6692328 rs776194115 |
120 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385794045 rs1222774356 |
121 | W>* | No |
ClinGen gnomAD |
|
|
CA385794042 rs1446850401 |
121 | W>* | No |
ClinGen gnomAD |
|
|
CA6692330 COSM695060 COSM695061 rs567529302 |
123 | G>S | lung Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1193201844 CA385794064 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385794069 rs1381046778 |
125 | E>G | No |
ClinGen gnomAD |
|
|
rs773400560 CA6692331 |
127 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs907772390 CA239281230 |
130 | A>G | No |
ClinGen TOPMed |
|
|
CA385794118 rs766693613 |
132 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs766693613 CA6692333 |
132 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6692332 rs763408262 |
132 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692334 rs752083422 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166679994 CA385794131 |
134 | I>M | No |
ClinGen gnomAD |
|
|
rs113617304 CA239281259 |
135 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs767699458 CA6692336 |
135 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs530006793 CA6692337 |
138 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756344523 CA6692338 |
141 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs778075111 CA6692339 |
142 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1594014493 CA385794195 |
143 | M>I | No |
ClinGen Ensembl |
|
|
rs758194642 CA6692341 |
143 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745606358 CA6692340 |
143 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6692342 rs201416567 |
144 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692344 rs768586832 |
146 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA385794215 rs768586832 |
146 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs776064193 CA6692345 |
147 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747679947 CA6692346 |
149 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA385794240 rs1594014546 |
150 | S>C | No |
ClinGen Ensembl |
|
|
CA385794241 rs1383749990 |
150 | S>N | No |
ClinGen Ensembl |
|
|
rs1261743462 CA385794255 |
152 | S>P | No |
ClinGen TOPMed |
|
|
rs1459199696 CA385794263 |
153 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769396644 CA6692347 |
153 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692348 rs772888636 |
155 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs182082343 CA385794284 |
156 | S>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA239281316 rs182082343 |
156 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA385794314 rs762561811 |
160 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372191865 CA385794339 |
162 | V>G | No |
ClinGen gnomAD |
|
|
CA6692363 rs149571330 |
163 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194129624 CA385794341 |
163 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751369509 CA6692364 |
164 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147266448 CA6692365 |
165 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385794366 rs200975261 |
166 | S>C | No |
ClinGen gnomAD |
|
|
rs200975261 CA239282738 |
166 | S>F | No |
ClinGen gnomAD |
|
|
rs1315443961 CA385794387 |
169 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748125465 CA6692367 |
171 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs867774073 CA239282750 |
173 | V>I | No |
ClinGen TOPMed |
|
|
rs867774073 CA385794409 |
173 | V>L | No |
ClinGen TOPMed |
|
|
CA6692368 rs769269866 |
174 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193291851 CA385794419 |
175 | P>A | No |
ClinGen TOPMed |
|
|
rs1450472267 CA385794423 |
175 | P>Q | No |
ClinGen TOPMed |
|
|
rs748965111 CA6692370 |
177 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385794432 rs748965111 |
177 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692371 rs770493107 |
178 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385794456 rs1345885518 |
180 | G>V | No |
ClinGen gnomAD |
|
|
rs140863628 CA6692372 |
181 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs991800038 CA239282771 |
184 | H>R | No |
ClinGen Ensembl |
|
|
rs1321092213 CA385794480 |
184 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772665038 CA6692374 |
185 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366043607 CA385794490 |
186 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 187 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239282784 rs868769855 |
192 | Y>* | No |
ClinGen Ensembl |
|
|
CA6692376 rs761325625 |
192 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550463995 COSM3710828 COSM3710829 CA385794561 |
193 | A>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6692377 COSM1364216 COSM1364215 rs550463995 |
193 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385794567 rs1285243094 |
194 | P>A | No |
ClinGen TOPMed |
|
|
CA385794568 rs1285243094 |
194 | P>S | No |
ClinGen TOPMed |
|
|
CA385794579 rs1478769199 |
195 | G>* | No |
ClinGen gnomAD |
|
|
CA385794581 rs1594018157 |
195 | G>V | No |
ClinGen Ensembl |
|
|
CA6692391 rs772554958 |
197 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1353911424 CA385795380 |
197 | T>K | No |
ClinGen TOPMed |
|
|
CA385795396 rs1391852331 |
199 | T>A | No |
ClinGen gnomAD |
|
|
CA385795400 rs1313603216 |
199 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6692394 rs747456661 |
201 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA385795415 rs747456661 |
201 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs769060228 COSM1323067 COSM1323068 CA239288121 |
201 | R>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6692396 rs776725454 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6692397 rs545047033 |
203 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765400377 CA6692399 |
204 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs773401743 CA6692400 |
205 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA385795440 rs1265846539 |
205 | P>S | No |
ClinGen gnomAD |
|
|
rs1211500894 CA385795453 |
207 | I>L | No |
ClinGen gnomAD |
|
|
CA6692402 rs763218183 |
208 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385795475 rs1178442131 |
210 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs144813686 COSM431849 COSM70910 CA6692403 |
211 | R>Q | ovary breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385795491 rs1417881193 |
213 | G>S | No |
ClinGen gnomAD |
|
|
CA6692405 rs575370004 |
215 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6692406 rs147932988 |
215 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147932988 CA6692407 |
215 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692408 rs756688457 |
216 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6692409 rs778613082 |
217 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566077328 CA385795531 |
219 | T>A | No |
ClinGen Ensembl |
|
|
CA385795533 rs1371223600 |
219 | T>I | No |
ClinGen gnomAD |
|
|
rs1313329089 CA385795548 |
221 | F>S | No |
ClinGen gnomAD |
|
|
CA385795546 rs1469052246 |
221 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385796537 rs1452640320 |
224 | S>T | No |
ClinGen gnomAD |
|
|
CA239293346 rs953282819 |
227 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1173008681 CA385796556 |
227 | D>H | No |
ClinGen gnomAD |
|
|
rs951083609 CA239293348 |
228 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA239293350 rs553185397 |
228 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 229 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 229 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214612277 CA385796619 |
234 | Y>S | No |
ClinGen gnomAD |
|
|
rs765843532 CA239293387 |
235 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs80096121 CA6692448 |
235 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA239293399 rs916031657 |
237 | W>* | No |
ClinGen gnomAD |
|
|
CA6692449 rs564751868 |
237 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947451256 CA239293403 |
240 | K>E | No |
ClinGen Ensembl |
|
|
CA385796667 rs1342224705 |
241 | W>* | No |
ClinGen Ensembl |
|
|
CA385796684 rs1407043581 |
243 | M>I | No |
ClinGen gnomAD |
|
|
CA385796690 rs1461758982 |
244 | P>H | No |
ClinGen gnomAD |
|
|
CA385796695 rs377695461 |
245 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA239293406 rs377695461 |
245 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6692450 rs776493562 |
245 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385796712 rs1460547642 |
248 | V>A | No |
ClinGen gnomAD |
|
|
rs1328982943 CA385796725 |
250 | D>A | No |
ClinGen gnomAD |
|
|
CA385796735 rs1355742661 |
251 | P>L | No |
ClinGen gnomAD |
|
|
rs1400869924 CA385796744 |
253 | C>Y | No |
ClinGen TOPMed |
|
|
CA239293418 rs920358675 |
256 | I>T | No |
ClinGen TOPMed |
|
|
CA385796772 rs1278278413 |
257 | L>S | No |
ClinGen gnomAD |
|
|
rs934632891 CA239293421 |
258 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA239293441 rs575130692 COSM1628847 |
263 | C>R | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
| TCGA novel | 266 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185852175 CA385796835 |
266 | L>R | No |
ClinGen TOPMed |
|
|
rs1332997610 CA385796843 |
267 | C>* | No |
ClinGen gnomAD |
|
|
CA385796845 rs1209428533 |
268 | V>I | No |
ClinGen gnomAD |
|
|
CA239293466 rs890688766 |
269 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385796854 rs1202426696 |
269 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6692453 rs749917015 |
269 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358945380 CA385796860 |
270 | T>S | No |
ClinGen TOPMed |
|
|
CA385796863 rs1475460369 |
271 | V>L | No |
ClinGen gnomAD |
|
|
rs1189822740 CA385796882 |
274 | V>I | No |
ClinGen gnomAD |
|
|
CA239293470 rs753301739 |
275 | Q>L | No |
ClinGen gnomAD |
|
|
CA239293471 rs879475406 |
276 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1168111464 CA385796903 |
277 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6692454 rs150239550 |
279 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA239293472 rs267603670 |
279 | P>S | No |
ClinGen TOPMed |
|
|
rs61746545 CA239293474 |
283 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 287 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 288 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239293481 rs201431673 |
290 | T>A | No |
ClinGen Ensembl |
|
|
rs1327520580 CA385797000 |
290 | T>I | No |
ClinGen gnomAD |
|
|
rs1415887333 CA385797002 |
291 | P>S | No |
ClinGen gnomAD |
|
|
CA385797014 rs1315226506 |
292 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385797017 rs1353924445 |
293 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766036782 CA385797032 |
295 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766036782 CA6692455 |
295 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289391267 CA385797041 |
296 | A>V | No |
ClinGen gnomAD |
|
|
CA6692456 rs751159778 |
298 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1212887074 CA385797063 |
300 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385797067 rs1426076594 |
300 | E>G | No |
ClinGen TOPMed |
|
|
CA385797075 rs1273945046 |
301 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA239293500 rs995222791 |
302 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385797087 rs1255200028 |
303 | K>E | No |
ClinGen gnomAD |
|
|
CA385797095 rs1193534950 |
304 | E>* | No |
ClinGen gnomAD |
|
|
CA239293509 rs999325555 |
305 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs267603671 CA239293516 |
311 | E>K | No |
ClinGen Ensembl |
|
|
CA239293526 rs951099703 |
313 | M>I | No |
ClinGen gnomAD |
|
|
rs1027120077 CA239293521 |
313 | M>V | No |
ClinGen TOPMed |
|
|
CA239293531 rs1033072781 |
315 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 317 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385797262 rs1435934193 |
319 | E>K | No |
ClinGen gnomAD |
|
|
rs1374088085 CA385797304 |
321 | E>D | No |
ClinGen gnomAD |
|
|
CA385797289 rs1176054653 |
321 | E>K | No |
ClinGen gnomAD |
|
|
CA385797322 rs1566081657 |
322 | E>D | No |
ClinGen Ensembl |
|
|
rs1267085498 CA385797307 |
322 | E>K | No |
ClinGen TOPMed |
|
|
CA385797319 rs1395806416 |
322 | E>V | No |
ClinGen gnomAD |
|
|
rs1328446646 CA385797352 |
323 | E>D | No |
ClinGen gnomAD |
|
|
CA385797331 rs1319316582 |
323 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236474483 CA385797391 |
326 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385797394 rs1404777626 |
326 | E>V | No |
ClinGen TOPMed |
|
|
rs753117704 CA6692466 |
327 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1406328858 CA385797420 |
328 | E>A | No |
ClinGen TOPMed |
|
|
rs1263527301 CA385797446 |
329 | E>G | No |
ClinGen gnomAD |
|
|
CA6692471 rs529718611 |
330 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA239293615 rs529718611 |
330 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770972888 CA6692473 |
332 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385797518 rs1393814410 |
333 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs987414446 CA239293622 |
334 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6692474 rs779105290 |
335 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746012719 CA6692475 |
335 | Q>H | No |
ClinGen ExAC |
|
|
rs779105290 CA239293628 |
335 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772355621 CA6692476 |
337 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399224153 CA385797615 |
338 | K>N | No |
ClinGen gnomAD |
|
|
rs1201879908 CA385797627 |
339 | M>T | No |
ClinGen TOPMed |
|
|
CA6692477 rs776243928 |
342 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA385797734 rs1194105018 |
345 | K>K | No |
ClinGen TOPMed |
No associated diseases with Q4G1C9
4 regional properties for Q4G1C9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | Oxygen oxidoreductase covalent FAD-binding site | 21 - 54 | IPR006093 |
| domain | FAD linked oxidase, N-terminal | 21 - 156 | IPR006094 |
| domain | D-arabinono-1,4-lactone oxidase, C-terminal domain | 180 - 437 | IPR007173 |
| domain | FAD-binding domain, PCMH-type | 17 - 187 | IPR016166 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| binding of sperm to zona pellucida | The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAARPFARE | WRAQSLPLAV | GGVLKLRLCE | LWLLLLGSSL | NARFLPDEED | VDFINEYVNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HNELRGDVIP | RGSNLRFMTW | DVALSRTARA | WGKKCLFTHN | IYLQDVQMVH | PKFYGIGENM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WVGPENEFTA | SIAIRSWHAE | KKMYNFENGS | CSGDCSNYIQ | LVWDHSYKVG | CAVTPCSKIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HIIHAAIFIC | NYAPGGTLTR | RPYEPGIFCT | RCGRRDKCTD | FLCSNADRDQ | ATYYRFWYPK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WEMPRPVVCD | PLCTFILLLR | ILCFILCVIT | VLIVQSQFPN | ILLEQQMIFT | PEESEAGNEE |
| 310 | 320 | 330 | 340 | ||
| EEKEEEKKEK | EEMEMEIMEM | EEEKEEREEE | EEETQKEKME | EEEK |