Q7Z2X4
Gene name |
PID1 (NYGGF4, PCLI1, HMFN2073) |
Protein name |
PTB-containing, cubilin and LRP1-interacting protein |
Names |
P-CLI1, Phosphotyrosine interaction domain-containing protein 1, Protein NYGGF4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55022 |
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 Q7Z2X4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z2X4-F1 | Predicted | AlphaFoldDB |
204 variants for Q7Z2X4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1411748093 CA351143697 |
3 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1411748093 CA351143698 |
3 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351143687 rs1221120043 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2151451 rs550803281 |
5 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351143676 rs1341514037 |
6 | L>R | No |
ClinGen gnomAD |
|
|
CA540261081 rs1365931046 |
11 | C>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326361959 CA351143624 |
14 | T>A | No |
ClinGen TOPMed |
|
|
rs532299472 CA67375321 |
14 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs747456911 CA67375320 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1369347174 CA351143573 |
22 | C>R | No |
ClinGen gnomAD |
|
|
rs764573914 CA2151450 |
26 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1234856769 CA351143527 |
28 | I>T | No |
ClinGen gnomAD |
|
|
CA351143530 rs1470377879 |
28 | I>V | No |
ClinGen gnomAD |
|
|
CA67375319 rs988892560 |
29 | K>R | No |
ClinGen TOPMed |
|
|
rs1482785273 CA351143502 |
32 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2151448 rs540348737 |
32 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151447 rs540348737 |
32 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195299335 CA351143488 |
34 | L>F | No |
ClinGen TOPMed |
|
|
CA351143480 rs1311013549 |
35 | I>M | No |
ClinGen gnomAD |
|
|
rs1301156268 CA351143479 |
36 | M>L | No |
ClinGen gnomAD |
|
|
rs1031879252 CA67375318 |
37 | I>T | No |
ClinGen gnomAD |
|
|
rs1375394539 CA351143450 |
40 | A>P | No |
ClinGen TOPMed |
|
|
CA351143438 rs560587616 |
42 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151445 rs560587616 |
42 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771130057 CA351143431 |
43 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771130057 CA2151444 |
43 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_030361 | 43 | T>THFQTMLKSKLNVLTLKKEPLPAVIFHEPEAIELCTTTPLMKTRTHSGCK | variant with duplicated exon 2 [UniProt] | No | UniProt |
|
CA351143049 rs1559260893 |
46 | Q>E | No |
ClinGen Ensembl |
|
|
CA2151421 COSM573948 rs775616491 |
48 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351143027 rs1384849517 |
49 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745434084 CA2151419 |
52 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 60 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777262681 CA2151415 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA67366745 rs774601480 |
63 | L>V | No |
ClinGen gnomAD |
|
|
rs758850038 CA2151414 |
64 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2151413 rs372924123 |
65 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA67366744 rs866131500 |
67 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377545576 CA2151410 |
69 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554571331 CA2151411 |
69 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA67366743 rs1000638719 |
70 | E>K | No |
ClinGen TOPMed |
|
|
CA2151409 rs766470127 |
71 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1345703778 CA351142884 |
71 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2151407 rs750696637 |
73 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA67366742 rs977303703 |
74 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA351142868 rs977303703 |
74 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2151406 rs767612357 |
74 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559260780 CA351142847 |
77 | C>Y | No |
ClinGen Ensembl |
|
|
CA2151405 rs762863713 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2151404 rs775417884 COSM3407641 |
78 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2151402 rs759556797 |
80 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776658269 CA2151401 |
81 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151398 rs772979459 |
83 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771619447 CA2151397 |
86 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2151396 rs747732576 |
87 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151394 rs755288963 |
88 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2151393 rs749823807 |
89 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780505579 CA2151392 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA351142753 rs1327420683 |
92 | K>R | No |
ClinGen gnomAD |
|
|
CA2151370 rs200670777 |
93 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151371 rs746316153 |
93 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746316153 CA67351649 |
93 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317217988 CA351142714 |
94 | T>I | No |
ClinGen gnomAD |
|
|
CA351142716 rs1317217988 |
94 | T>N | No |
ClinGen gnomAD |
|
|
rs1314285812 CA351142710 |
95 | Y>S | No |
ClinGen TOPMed |
|
|
rs530206277 CA2151368 |
102 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151367 rs530206277 |
102 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151365 COSM1262164 rs753685149 |
104 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA351142656 rs1472167795 |
104 | M>L | No |
ClinGen gnomAD |
|
|
CA2151366 rs774315866 |
104 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2151362 rs750328267 |
109 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2151361 rs766968657 |
110 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs867123602 CA67351647 |
112 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1287964613 CA351142573 |
116 | I>T | No |
ClinGen gnomAD |
|
|
CA351142575 rs1230241740 |
116 | I>V | No |
ClinGen TOPMed |
|
|
rs1209359881 CA351142564 |
117 | E>D | No |
ClinGen gnomAD |
|
|
rs761279404 CA2151360 |
119 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs369664470 CA67351646 |
120 | K>N | No |
ClinGen ESP gnomAD |
|
|
rs774039165 CA2151359 |
122 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs116780832 CA2151357 |
123 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138008399 CA2151358 |
123 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351142511 rs1351312818 |
126 | R>G | No |
ClinGen gnomAD |
|
|
CA2151355 rs376315848 |
126 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351142503 rs781693595 |
127 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA67351645 rs746380607 |
127 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2151354 rs746380607 |
127 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771186895 CA2151352 |
130 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1282797395 CA351142486 |
130 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1733957 CA2151351 rs200100687 |
131 | P>L | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 132 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2151347 rs371656791 |
133 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752906895 COSM3407640 CA2151348 |
133 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA351142460 rs1262503709 |
134 | A>D | No |
ClinGen TOPMed |
|
|
CA67351644 rs906122529 |
135 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2151345 rs750369782 |
136 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369349795 CA2151344 |
137 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA67351643 rs868310857 |
137 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1342150141 CA351142436 |
138 | I>M | No |
ClinGen gnomAD |
|
|
CA351142442 rs1203108911 |
138 | I>V | No |
ClinGen gnomAD |
|
|
rs769912855 CA351142434 COSM3723050 COSM3723049 |
139 | R>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769912855 CA351142433 |
139 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769912855 CA2151342 |
139 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2151343 rs756817470 COSM1406046 |
139 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA351142410 rs1378140205 |
143 | V>I | No |
ClinGen TOPMed |
|
|
CA351142396 rs1350723339 |
144 | W>C | No |
ClinGen gnomAD |
|
|
rs1403878830 CA351142399 |
144 | W>L | No |
ClinGen gnomAD |
|
|
CA2151339 rs775155088 |
146 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777064626 CA2151336 |
149 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1574563792 CA351142352 |
151 | K>E | No |
ClinGen Ensembl |
|
|
CA2151335 rs771563104 |
151 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151333 rs143477115 |
152 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2151334 rs747456430 |
152 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2151332 rs772231276 |
153 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2151331 rs374938855 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374938855 CA2151330 |
154 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2151329 rs555758096 |
155 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745661805 CA2151328 |
155 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351142324 rs1212780806 |
156 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757191514 CA2151326 |
157 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1278434062 CA351142307 |
158 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs143934715 CA2151325 |
159 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763613380 CA2151324 |
160 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs763613380 CA351142294 |
160 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1574563689 CA351142298 |
160 | T>P | No |
ClinGen Ensembl |
|
|
rs560345468 CA67351639 |
163 | V>L | No |
ClinGen Ensembl |
|
|
rs1574563668 CA351142268 |
164 | A>V | No |
ClinGen Ensembl |
|
|
rs752330068 CA2151322 |
165 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151321 COSM3783405 COSM3783406 rs764931966 |
165 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1422908127 CA351142261 |
166 | I>V | No |
ClinGen gnomAD |
|
|
CA2151319 rs777061648 |
167 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA916794291 rs1574563638 |
169 | C>* | No |
ClinGen Ensembl |
|
|
CA2151318 rs766796821 |
169 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1574563633 CA351142235 |
170 | T>P | No |
ClinGen Ensembl |
|
|
CA351142228 COSM3938973 rs1414524157 COSM3938972 |
171 | A>T | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs147550577 CA351142200 |
174 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2151314 rs748239313 |
175 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774493127 CA2151313 |
178 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67351638 rs767190848 |
179 | I>V | No |
ClinGen Ensembl |
|
|
CA2151310 rs780979505 |
181 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2151309 rs756993411 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746976329 CA2151308 |
185 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs868845353 CA67351637 |
185 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777654024 CA2151307 |
186 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752250623 CA2151305 |
188 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151306 rs752250623 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151304 rs778222068 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754676523 CA2151303 |
191 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA351142072 rs1435567392 |
194 | Q>* | No |
ClinGen gnomAD |
|
|
rs1375061952 CA351142069 |
194 | Q>H | No |
ClinGen TOPMed |
|
|
CA67351636 rs914655421 |
194 | Q>R | No |
ClinGen TOPMed |
|
|
rs147401384 CA351142055 |
196 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351142057 rs1390509085 |
196 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351142058 rs1390509085 |
196 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs147401384 CA2151302 |
196 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761090784 CA2151300 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768122935 CA2151298 |
200 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1017494 rs774492653 CA2151296 |
203 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1246511943 CA351141987 |
205 | K>N | No |
ClinGen gnomAD |
|
|
CA351141979 rs1485377604 |
207 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA67351634 rs965903527 |
210 | K>T | No |
ClinGen gnomAD |
|
|
CA2151295 rs768561295 |
212 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2151294 rs763254297 |
213 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2151292 COSM442441 rs374635933 |
214 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367256862 CA351141929 |
215 | M>L | No |
ClinGen gnomAD |
|
|
CA2151291 rs372680514 |
217 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372680514 CA2151290 |
217 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747981058 CA2151288 |
220 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351141881 rs1456485514 |
221 | K>R | No |
ClinGen gnomAD |
|
|
rs1364967420 CA351141867 |
223 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2151286 rs754405826 |
225 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67351633 rs995488872 |
227 | K>E | No |
ClinGen gnomAD |
|
|
CA2151285 rs753586018 |
228 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147151232 CA351141827 |
228 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370972921 CA2151282 |
229 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375488219 RCV001261742 CA2151283 |
229 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 229 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142605695 CA2151280 |
230 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764261003 CA2151278 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751961969 CA2151279 |
231 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351141807 rs1175329685 |
232 | I>N | No |
ClinGen gnomAD |
|
|
CA2151277 rs200236587 |
234 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351141785 rs1375881382 |
235 | N>S | No |
ClinGen TOPMed |
|
|
rs769987356 CA2151275 |
236 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2151272 rs544315038 |
239 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544315038 CA2151271 |
239 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2151270 rs576959046 |
240 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351141749 rs768262534 |
241 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768262534 CA2151269 |
241 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67351632 COSM109436 rs147989407 |
242 | S>P | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA351141728 rs1257049452 |
244 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351141700 rs1482081107 |
248 | D>A | No |
ClinGen TOPMed |
|
|
CA2151266 rs558532862 |
248 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2151264 rs375223051 |
250 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA67351631 rs201119541 |
251 | G>S | No |
ClinGen Ensembl |
No associated diseases with Q7Z2X4
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to cytokine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. |
| cellular response to fatty acid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fatty acid stimulus. |
| cellular response to interleukin-6 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-6 stimulus. |
| cellular response to leptin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leptin stimulus. Leptin is a hormone manufactured primarily in the adipocytes of white adipose tissue, and the level of circulating leptin is directly proportional to the total amount of fat in the body. It plays a key role in regulating energy intake and energy expenditure, including appetite and metabolism. |
| cellular response to tumor necrosis factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. |
| energy reserve metabolic process | The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| negative regulation of ATP biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. |
| negative regulation of glucose import | Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
| negative regulation of protein localization to plasma membrane | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| positive regulation of ATP biosynthetic process | Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. |
| positive regulation of fat cell proliferation | Any process that activates or increases the rate or extent of fat cell proliferation. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of reactive oxygen species metabolic process | Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of mitochondrial fusion | Any process that modulates the frequency, rate or extent of merging of two or more mitochondria within a cell to form a single compartment. |
| regulation of mitochondrial membrane potential | Any process that modulates the establishment or extent of the mitochondrial membrane potential, the electric potential existing across the mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of reactive oxygen species metabolic process | Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3UBG2 | Pid1 | PTB-containing, cubilin and LRP1-interacting protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFSLPLSLPL | CEDTAFLPSK | CCSSHKTIKQ | ARTLIMIFLA | SGTHFQTMLK | SKLNVLTLKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPLPAVIFHE | PEAIELCTTT | PLMKTRTHSG | CKVTYLGKVS | TTGMQFLSGC | TEKPVIELWK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KHTLAREDVF | PANALLEIRP | FQVWLHHLDH | KGEATVHMDT | FQVARIAYCT | ADHNVSPNIF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AWVYREINDD | LSYQMDCHAV | ECESKLEAKK | LAHAMMEAFR | KTFHSMKSDG | RIHSNSSSEE |
| VSQELESDDG |