O75563
Gene name |
SKAP2 (PRAP, RA70, SAPS, SCAP2, SKAP55R) |
Protein name |
Src kinase-associated phosphoprotein 2 |
Names |
Pyk2/RAFTK-associated protein, Retinoic acid-induced protein 70, SKAP55 homolog, SKAP-55HOM, SKAP-HOM, Src family-associated phosphoprotein 2, Src kinase-associated phosphoprotein 55-related protein, Src-associated adapter protein with PH and SH3 domains |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8935 |
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
2 structures for O75563
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3OMH | X-ray | 290 A | E/F/G/H | 71-79 | PDB |
| AF-O75563-F1 | Predicted | AlphaFoldDB |
236 variants for O75563
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1243108044 CA367231772 |
2 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1185879796 CA367231760 |
4 | P>R | No |
ClinGen gnomAD |
|
|
rs1341703922 CA367231761 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA4195770 rs754298536 |
5 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA367231741 rs1209564946 |
7 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367231740 rs1209564946 |
7 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4195766 rs534073665 |
10 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4195765 rs199915571 |
11 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4195764 RCV000956470 rs137938529 |
12 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367231705 rs1380278034 |
13 | L>F | No |
ClinGen gnomAD |
|
|
CA367231699 rs1335708568 |
14 | P>S | No |
ClinGen gnomAD |
|
|
CA367231670 rs369206020 |
18 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195761 rs369206020 |
18 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195760 rs369206020 |
18 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140914133 CA4195759 |
20 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290939528 CA367231570 |
31 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759161151 CA4195743 |
36 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341177258 CA367231532 |
37 | L>V | No |
ClinGen gnomAD |
|
|
rs776279217 CA4195742 |
41 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1226193050 CA367231487 |
43 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4195741 rs771052066 |
45 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1217746103 CA367231456 |
47 | S>F | No |
ClinGen TOPMed |
|
|
rs1217746103 CA367231458 |
47 | S>Y | No |
ClinGen TOPMed |
|
|
CA4195739 rs145659190 |
49 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA156329156 rs151047705 |
49 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA367231435 rs1584428981 |
51 | K>E | No |
ClinGen Ensembl |
|
|
rs1309162169 CA367231422 |
52 | I>M | No |
ClinGen gnomAD |
|
|
CA156329155 rs993462710 |
54 | D>N | No |
ClinGen TOPMed |
|
|
CA367231406 rs1394745071 |
55 | V>I | No |
ClinGen gnomAD |
|
|
CA4195736 rs140223829 |
58 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA156329154 rs140223829 |
58 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195737 rs140223829 |
58 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367231366 rs1461593957 |
59 | Y>C | No |
ClinGen gnomAD |
|
|
CA4195715 rs375826440 |
61 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367231356 rs1201354278 |
61 | Q>K | No |
ClinGen gnomAD |
|
|
CA367231352 rs1322258368 |
61 | Q>R | No |
ClinGen gnomAD |
|
|
CA156329114 rs112160989 |
64 | Q>R | No |
ClinGen Ensembl |
|
|
rs1225977051 CA367231323 |
65 | D>A | No |
ClinGen gnomAD |
|
|
CA367231317 rs1371891891 |
66 | K>E | No |
ClinGen gnomAD |
|
|
CA367231315 rs1376256661 |
66 | K>R | No |
ClinGen TOPMed |
|
|
CA367231295 rs1399065436 |
67 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1303823862 CA367231310 |
67 | G>S | No |
ClinGen TOPMed |
|
|
CA367231290 rs1290845343 |
68 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4195696 rs368498535 |
69 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195695 rs761724642 |
71 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367231267 rs761724642 |
71 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367231262 rs1315585706 |
72 | G>E | No |
ClinGen TOPMed |
|
|
CA4195694 rs774143292 |
72 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA367231255 rs1218598646 |
73 | E>G | No |
ClinGen TOPMed |
|
|
rs147926422 CA4195692 |
74 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367231249 rs1161512164 |
74 | E>K | No |
ClinGen gnomAD |
|
|
CA367231240 rs1419848946 |
75 | Y>C | No |
ClinGen gnomAD |
|
|
rs775739380 CA4195691 |
76 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775739380 CA367231232 |
76 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584422689 CA367231226 |
77 | D>A | No |
ClinGen Ensembl |
|
|
rs1484622375 CA367231223 |
77 | D>E | No |
ClinGen gnomAD |
|
|
rs770027415 CA4195690 |
78 | P>L | No |
ClinGen ExAC |
|
|
CA367231221 rs1240960067 |
78 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367231206 rs1454457277 |
80 | A>S | No |
ClinGen TOPMed |
|
|
rs1454457277 CA367231208 |
80 | A>T | No |
ClinGen TOPMed |
|
|
CA156328006 rs778197962 |
81 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4195688 rs778197962 |
81 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781322288 CA4195687 |
83 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA156328003 rs926723062 |
85 | T>S | No |
ClinGen TOPMed |
|
|
CA4195684 rs140944912 |
86 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195685 rs747451796 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4195683 rs758783711 |
87 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA367231136 rs1584422637 |
92 | R>* | No |
ClinGen Ensembl |
|
|
CA156328002 rs982512587 |
92 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4195679 rs200204065 |
94 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs574563137 CA4195678 |
95 | K>E | No |
ClinGen 1000Genomes ExAC |
|
|
CA367231109 rs1279298404 |
96 | D>Y | No |
ClinGen TOPMed |
|
|
rs1426305212 CA367231100 |
97 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 97 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4195676 rs763997613 |
99 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763997613 CA4195675 |
99 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775355459 CA4195674 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775355459 CA4195673 |
100 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs913893751 CA156327999 |
101 | S>C | No |
ClinGen Ensembl |
|
|
CA156328000 rs913893751 |
101 | S>Y | No |
ClinGen Ensembl |
|
|
rs760873604 CA4195647 |
105 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs771252306 CA4195648 |
105 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337017647 CA367230806 |
107 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA156316494 rs1004787966 |
109 | I>T | No |
ClinGen TOPMed |
|
|
rs773420570 CA4195646 |
109 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4195645 rs772763425 |
111 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA367230780 rs1171417915 |
112 | Q>* | No |
ClinGen gnomAD |
|
|
CA367230782 rs1171417915 |
112 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | P>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924911955 CA156316492 |
115 | P>T | No |
ClinGen TOPMed |
|
|
rs574072209 CA4195644 |
120 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367230728 rs574072209 |
120 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4195643 rs574072209 |
120 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM223150 CA156316490 rs1025140851 |
126 | R>C | ovary Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM331555 rs372903599 CA4195642 |
126 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1209596632 CA367230671 |
128 | K>N | No |
ClinGen TOPMed |
|
|
rs754848310 CA4195632 |
131 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA367230629 rs1267477894 |
132 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4195629 rs375337222 |
138 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4195627 rs367722228 |
140 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866446687 COSM3411953 CA156316386 COSM2153652 |
140 | R>W | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1472790853 CA367230570 |
141 | W>R | No |
ClinGen TOPMed |
|
|
CA367230553 rs1224506623 |
143 | A>P | No |
ClinGen gnomAD |
|
|
rs553801337 CA156316385 |
144 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4195625 rs146206173 |
147 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel CA4195623 rs775819356 |
149 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs201686969 CA4195621 |
150 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA367230509 rs1562592925 |
150 | Y>N | No |
ClinGen Ensembl |
|
|
CA367230478 rs1398840169 |
154 | S>G | No |
ClinGen gnomAD |
|
|
rs746602552 CA4195620 |
155 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777299001 CA4195619 |
156 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA367230432 rs1264398113 |
158 | K>Q | No |
ClinGen gnomAD |
|
|
rs1476659212 CA367230383 |
164 | F>Y | No |
ClinGen TOPMed |
|
|
rs369201328 CA4195593 |
166 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367230350 rs1280637842 |
169 | Y>C | No |
ClinGen gnomAD |
|
|
rs1444880208 CA367230344 |
170 | S>G | No |
ClinGen gnomAD |
|
|
CA4195592 rs757408710 |
171 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4195591 rs751674814 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4195590 rs764017598 |
176 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367230296 rs764017598 |
176 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs763551490 CA4195587 |
180 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367230268 rs1174452200 |
181 | G>R | No |
ClinGen gnomAD |
|
|
rs1028000989 CA156315147 |
183 | K>N | No |
ClinGen Ensembl |
|
|
CA367230206 rs1159042555 |
189 | I>V | No |
ClinGen gnomAD |
|
|
rs753156779 CA4195585 |
190 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765714494 CA4195584 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs150725979 CA4195583 |
193 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1244594951 CA367230166 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM184196 CA156315146 rs199985669 |
195 | R>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA367230168 rs1244594951 |
195 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4195581 rs771812040 |
196 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA367230162 rs771812040 |
196 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA156315038 COSM4155706 rs868153077 |
200 | T>I | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 201 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4195566 rs760020231 |
202 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1129771 CA4195567 VAR_029812 |
202 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367230096 rs1238947869 |
204 | P>L | No |
ClinGen TOPMed |
|
|
CA367230094 rs1179722170 |
205 | K>E | No |
ClinGen gnomAD |
|
|
CA156315036 rs928514749 |
205 | K>R | No |
ClinGen TOPMed |
|
|
rs928514749 CA156315037 |
205 | K>T | No |
ClinGen TOPMed |
|
|
rs754212424 CA4195565 |
206 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766583577 CA4195564 |
206 | D>V | No |
ClinGen ExAC |
|
|
CA4195563 rs761555788 |
209 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4195562 rs375906049 |
216 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4195561 rs763778638 |
217 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1285913351 CA367229995 |
219 | Q>R | No |
ClinGen gnomAD |
|
|
rs766788347 CA4195545 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4195546 rs754256737 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA367229945 rs750796906 |
224 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4195543 rs750796906 |
224 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4195542 rs138740188 |
225 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367229935 rs1388294383 |
226 | I>F | No |
ClinGen TOPMed |
|
|
CA367229913 rs1562588397 |
229 | D>Y | No |
ClinGen Ensembl |
|
|
rs1369467943 CA367229904 |
230 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1457202946 CA367229891 |
232 | E>* | No |
ClinGen gnomAD |
|
|
COSM145935 CA4195539 rs775145779 |
240 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs576214855 CA4195538 |
241 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367229819 rs759571033 |
242 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4195537 rs759571033 |
242 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435358707 CA367229803 |
244 | L>P | No |
ClinGen gnomAD |
|
|
rs1056749629 CA156315016 |
247 | S>N | No |
ClinGen TOPMed |
|
|
rs1191038710 CA367229777 |
248 | N>S | No |
ClinGen gnomAD |
|
|
CA367229764 rs1196944637 |
250 | L>P | No |
ClinGen gnomAD |
|
|
rs17154402 CA367229745 |
253 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000971539 rs17154402 CA4195533 VAR_029813 |
253 | S>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs772293020 CA367229729 |
255 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772293020 CA4195532 |
255 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775760577 CA4195530 |
256 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs775760577 CA4195531 |
256 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749365286 CA4195528 |
259 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1225817 CA367229694 rs1332974809 |
260 | I>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 262 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367229668 rs1444046543 |
264 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142511976 CA4195506 |
268 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562576654 CA367229608 |
269 | E>D | No |
ClinGen Ensembl |
|
|
rs377087028 CA4195504 |
270 | D>G | No |
ClinGen ESP ExAC |
|
|
CA4195502 rs770208860 |
273 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367229512 rs1353655510 |
283 | S>G | No |
ClinGen TOPMed |
|
|
rs1289965857 CA367229494 |
285 | D>G | No |
ClinGen TOPMed |
|
|
rs781709750 CA4195500 |
285 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1196651072 CA367229472 |
288 | H>R | No |
ClinGen TOPMed |
|
|
rs751945383 CA4195497 |
289 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367229456 rs1223845787 |
290 | T>I | No |
ClinGen Ensembl |
|
|
CA367229455 rs1199809442 |
291 | S>P | No |
ClinGen gnomAD |
|
|
CA156310949 rs912535651 |
293 | D>E | No |
ClinGen TOPMed |
|
|
CA4195478 rs754587616 |
293 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4195479 rs754587616 |
293 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367229423 rs1191371181 |
294 | K>R | No |
ClinGen gnomAD |
|
|
CA4195477 rs753487208 |
295 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4195476 rs779449511 |
296 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367229406 rs1211273405 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA4195475 rs755696213 |
297 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA367229405 rs755696213 |
297 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367229361 rs1227565637 |
302 | Y>* | No |
ClinGen gnomAD |
|
|
rs767510572 CA4195473 |
303 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1344115486 CA367229329 |
307 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 311 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4195470 rs763910549 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4195468 rs375431686 |
312 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759760076 CA4195466 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs935424410 CA156310948 |
317 | S>* | No |
ClinGen TOPMed |
|
|
rs1421517267 CA367229232 |
317 | S>P | No |
ClinGen gnomAD |
|
|
CA4195464 rs771575048 |
320 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747450045 CA4195463 |
320 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA367231035 rs1183845237 |
332 | N>H | No |
ClinGen TOPMed |
|
|
rs960557345 CA156309490 |
332 | N>S | No |
ClinGen Ensembl |
|
|
CA156309489 rs368995717 |
333 | R>G | No |
ClinGen Ensembl |
|
|
CA4195436 rs780703919 |
334 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4195434 rs200813179 |
337 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs752555197 CA4195432 |
338 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA4195431 rs752555197 |
338 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs777836964 CA4195433 |
338 | V>L | No |
ClinGen ExAC |
|
|
rs569488841 CA4195427 |
339 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4195425 rs766684331 |
340 | E>K | No |
ClinGen ExAC |
|
|
CA367230969 rs1177581750 |
341 | M>I | No |
ClinGen gnomAD |
|
|
CA367230964 rs1472854793 |
342 | K>R | No |
ClinGen gnomAD |
|
|
COSM1622734 rs374798019 CA4195424 |
345 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs750463812 CA4195423 |
347 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA156309488 rs1031856593 |
348 | V>M | No |
ClinGen Ensembl |
|
|
CA156309487 rs998997425 |
349 | P>S | No |
ClinGen gnomAD |
|
|
CA4195422 rs191537857 |
351 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA837167058 rs1360820774 |
352 | Y>* | No |
ClinGen Ensembl |
|
|
CA4195421 rs762169255 |
353 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762169255 CA367230899 |
353 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4195420 rs371274766 |
354 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4195419 rs113781509 |
355 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1282566565 CA367230874 |
356 | M>I | No |
ClinGen gnomAD |
|
|
rs776308504 CA4195417 |
356 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA4195418 rs763283732 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 358 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O75563
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell activation | The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86WV1 | SKAP1 | Src kinase-associated phosphoprotein 1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPNPSSTSSP | YPLPEEIRNL | LADVETFVAD | ILKGENLSKK | AKEKRESLIK | KIKDVKSIYL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEFQDKGDAE | DGEEYDDPFA | GPPDTISLAS | ERYDKDDEAP | SDGAQFPPIA | AQDLPFVLKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYLEKRRKDH | SFLGFEWQKR | WCALSKTVFY | YYGSDKDKQQ | KGEFAIDGYS | VRMNNTLRKD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GKKDCCFEIS | APDKRIYQFT | AASPKDAEEW | VQQLKFVLQD | MESDIIPEDY | DERGELYDDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DHPLPISNPL | TSSQPIDDEI | YEELPEEEED | SAPVKVEEQR | KMSQDSVHHT | SGDKSTDYAN |
| 310 | 320 | 330 | 340 | 350 | |
| FYQGLWDCTG | AFSDELSFKR | GDVIYILSKE | YNRYGWWVGE | MKGAIGLVPK | AYIMEMYDI |