Q9NSE2
Gene name |
CISH (G18) |
Protein name |
Cytokine-inducible SH2-containing protein |
Names |
CIS, CIS-1, Protein G18, Suppressor of cytokine signaling, SOCS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1154 |
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 Q9NSE2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NSE2-F1 | Predicted | AlphaFoldDB |
227 variants for Q9NSE2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA352960774 rs1417143612 |
2 | V>I | No |
ClinGen gnomAD |
|
|
CA352960768 rs1167039251 |
3 | L>I | No |
ClinGen gnomAD |
|
|
rs1167039251 CA352960767 |
3 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472655919 CA352960741 |
6 | Q>H | No |
ClinGen gnomAD |
|
|
rs1185678890 CA352960745 |
6 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352960740 rs1485407475 |
7 | G>R | No |
ClinGen gnomAD |
|
|
rs773008803 CA74646036 |
8 | P>T | No |
ClinGen Ensembl |
|
|
rs371618307 CA2420087 |
9 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764969120 CA2420086 |
9 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764969120 CA352959442 |
9 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2420085 rs368039402 |
13 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74646012 rs1034128799 |
14 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1185329985 CA352959374 |
15 | E>G | No |
ClinGen gnomAD |
|
|
rs561018699 CA352959364 |
16 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2420083 rs561018699 |
16 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531354952 CA2420084 |
16 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3781840 CA2420081 rs780324307 COSM3781839 |
20 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2420082 rs375035387 |
20 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2420079 rs746100479 |
23 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs758499932 CA74645944 |
23 | W>R | No |
ClinGen Ensembl |
|
|
CA2420078 rs371205890 |
25 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754311338 CA2420076 |
26 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1311242120 CA352959265 |
26 | S>P | No |
ClinGen TOPMed |
|
|
rs1410557075 CA352959228 |
29 | L>P | No |
ClinGen TOPMed |
|
|
rs752881452 CA74645920 |
33 | V>L | No |
ClinGen Ensembl |
|
|
rs1356741514 CA352957778 |
34 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352957752 rs1168693701 |
35 | Q>H | No |
ClinGen gnomAD |
|
|
rs756680989 CA2420073 |
36 | P>A | No |
ClinGen ExAC |
|
|
rs1428477665 CA352957725 |
37 | L>F | No |
ClinGen gnomAD |
|
|
CA2420072 rs751038035 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74645903 rs923598427 |
40 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA74645893 rs191032931 |
41 | A>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs762538997 CA2420070 |
44 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201896056 CA2420069 |
45 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201896056 CA2420068 |
45 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2420067 rs761502849 |
46 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs768686842 CA2420065 |
48 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352957598 rs1353703124 |
48 | E>G | No |
ClinGen gnomAD |
|
|
rs776559824 CA2420066 |
48 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1453261848 CA352957589 |
49 | G>C | No |
ClinGen TOPMed |
|
|
rs765416701 CA2420064 |
50 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs796627241 CA74645850 |
51 | P>Q | No |
ClinGen Ensembl |
|
|
rs1377464891 CA352957567 |
51 | P>S | No |
ClinGen gnomAD |
|
|
CA2420062 rs562587305 |
54 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2420063 rs562587305 |
54 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352957530 rs1296833352 |
54 | T>S | No |
ClinGen gnomAD |
|
|
CA352957514 rs1199440919 |
55 | E>D | No |
ClinGen TOPMed |
|
|
CA352957517 rs1373965039 |
55 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746037457 CA2420061 |
56 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1474507293 CA352957484 |
57 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352957455 rs1415044413 |
59 | K>N | No |
ClinGen gnomAD |
|
|
rs916821029 CA74645827 |
60 | V>M | No |
ClinGen Ensembl |
|
|
rs749611185 CA2420058 |
66 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA74645797 rs761635256 |
68 | L>P | No |
ClinGen gnomAD |
|
|
rs991020460 CA74645794 |
70 | I>V | No |
ClinGen gnomAD |
|
|
CA352957353 rs1292779152 |
71 | A>V | No |
ClinGen gnomAD |
|
|
CA352957337 COSM1046540 COSM1046539 rs1233924693 |
74 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 75 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392329502 CA352957316 |
77 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs148162012 CA352957305 |
78 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148162012 RCV000896832 CA2420054 |
78 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2420055 rs141046429 |
78 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929428092 CA74645417 |
83 | Y>C | No |
ClinGen Ensembl |
|
|
rs368792354 CA74645401 |
85 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2420030 rs755987753 |
86 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188765915 CA352957081 |
87 | I>V | No |
ClinGen TOPMed |
|
|
rs767350636 CA2420028 |
88 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259753387 CA352957021 |
89 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352957011 rs1204593424 |
90 | S>G | No |
ClinGen gnomAD |
|
|
rs766498255 CA2420025 |
91 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232361040 CA352956942 |
92 | A>V | No |
ClinGen gnomAD |
|
|
rs373552550 CA2420024 |
93 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200588661 CA2420023 |
93 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352956911 rs770083611 |
94 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2420022 rs770083611 |
94 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352956866 rs1325156710 |
96 | L>P | No |
ClinGen gnomAD |
|
|
CA352956873 rs1396191507 |
96 | L>V | No |
ClinGen TOPMed |
|
|
CA2420021 rs762164564 |
97 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2420020 rs376687415 |
103 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144012341 CA2420019 |
103 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747577229 CA2420018 |
106 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2420017 rs145632110 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs377401159 CA352956588 |
107 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs377401159 CA74645311 |
107 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1371222048 CA352956564 |
108 | D>G | No |
ClinGen gnomAD |
|
|
CA2420015 rs748893210 |
110 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352956481 rs1575984299 |
111 | H>P | No |
ClinGen Ensembl |
|
|
CA2420012 rs752507448 |
115 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781089685 CA2420011 |
117 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369545796 CA2420008 |
122 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2420006 rs750557678 |
123 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140032833 CA2420005 |
124 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2420004 rs762076085 |
124 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 128 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761020637 CA2420001 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74645192 rs201825038 |
130 | R>H | No |
ClinGen TOPMed |
|
|
rs201825038 CA74645191 |
130 | R>L | No |
ClinGen TOPMed |
|
|
rs761020637 CA352956227 |
130 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394057671 CA352956223 |
131 | I>V | No |
ClinGen gnomAD |
|
|
rs748801053 CA2419998 |
133 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA74645182 rs929825606 |
134 | A>T | No |
ClinGen TOPMed |
|
|
CA74645174 rs866100406 |
134 | A>V | No |
ClinGen TOPMed |
|
|
CA2419995 rs143405439 |
135 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352956197 rs143405439 |
135 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475015141 CA352956182 |
137 | S>N | No |
ClinGen gnomAD |
|
|
rs747825441 CA2419993 |
138 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2419992 rs780805211 |
139 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1436502044 CA352956168 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352956162 rs1196900431 |
140 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352956163 rs1196900431 |
140 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2419990 rs145827559 |
143 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2419988 rs368519911 |
145 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2419987 rs750482467 |
148 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs375441453 CA2419985 |
149 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375441453 CA2419986 |
149 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750398759 CA2419984 |
149 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750398759 CA2419983 |
149 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372377941 CA2419982 |
150 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775787307 CA2419981 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760168237 CA2419979 |
155 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173367715 CA352956068 |
156 | V>M | No |
ClinGen TOPMed |
|
|
CA352956034 rs1247980200 |
161 | Q>* | No |
ClinGen gnomAD |
|
|
CA74644963 rs419160 CA2419978 |
162 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431193711 CA352955993 |
167 | C>Y | No |
ClinGen TOPMed |
|
|
rs769459339 CA2419977 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352955964 rs1183878287 |
171 | T>I | No |
ClinGen gnomAD |
|
|
CA352955968 rs1575983964 |
171 | T>P | No |
ClinGen Ensembl |
|
|
CA2419976 rs151134438 |
172 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2419975 rs151134438 |
172 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374472627 CA352955963 |
172 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374472627 CA2419973 |
172 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779764644 CA2419972 |
173 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs920731874 CA74644934 |
174 | D>H | No |
ClinGen TOPMed |
|
|
CA352955954 rs920731874 |
174 | D>N | No |
ClinGen TOPMed |
|
|
rs1221665399 CA352955946 |
175 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201615384 CA2419969 |
177 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201615384 CA352955929 COSM361244 COSM361243 |
177 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs419202 CA74644913 |
178 | P>R | No |
ClinGen Ensembl |
|
|
COSM213645 CA2419968 rs757344255 |
178 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753924515 CA352955892 |
179 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753924515 CA2419967 |
179 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2419966 rs368081240 |
180 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352955865 rs1575983857 |
181 | T>P | No |
ClinGen Ensembl |
|
|
CA2419963 rs768014875 |
182 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2419964 rs768014875 |
182 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs419346 CA74644850 |
185 | P>H | No |
ClinGen Ensembl |
|
|
CA352955752 rs1186697471 |
187 | P>S | No |
ClinGen TOPMed |
|
|
rs1378795531 CA352955708 |
189 | E>G | No |
ClinGen gnomAD |
|
|
rs764779412 CA352955662 |
191 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764779412 CA2419960 |
191 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA74644825 rs371715 |
192 | P>H | No |
ClinGen gnomAD |
|
|
rs371715 CA352955643 |
192 | P>L | No |
ClinGen gnomAD |
|
|
rs776069534 CA2419958 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA352955628 rs1399211736 |
193 | S>I | No |
ClinGen gnomAD |
|
|
rs1575983788 CA352955608 |
194 | D>A | No |
ClinGen Ensembl |
|
|
rs768335850 CA2419957 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746666602 CA2419956 |
196 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs141201807 CA2419953 |
197 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2419954 rs371586881 |
197 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1575983764 CA352955534 |
199 | A>P | No |
ClinGen Ensembl |
|
|
rs1489052279 CA352955506 |
200 | P>R | No |
ClinGen gnomAD |
|
|
rs749359011 CA2419950 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1460802884 CA352955459 |
203 | A>P | No |
ClinGen TOPMed |
|
|
rs756310030 CA2419948 |
203 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2419946 rs767926742 |
204 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA74644718 rs966907414 |
206 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA74644727 rs755402867 |
206 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2419945 rs755402867 |
206 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA352955377 rs1233479737 |
207 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352955311 rs1336621874 |
211 | V>L | No |
ClinGen gnomAD |
|
|
rs898325233 CA74644703 |
212 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1361491141 CA352955290 |
212 | Q>R | No |
ClinGen TOPMed |
|
|
CA2419941 rs753342365 |
216 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145267067 CA2419940 |
216 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2419942 rs753342365 |
216 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760312690 CA352955163 |
219 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760312690 CA2419939 |
219 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352955142 rs1159165798 |
220 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2419937 rs771770192 COSM3767478 COSM3767479 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs139699451 CA2419935 |
221 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2419936 rs139699451 |
221 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352955109 rs1185255986 |
222 | S>G | No |
ClinGen gnomAD |
|
|
rs1575983609 CA352955055 |
224 | Q>H | No |
ClinGen Ensembl |
|
|
CA2419932 rs777867992 |
225 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA352955042 rs769768271 |
225 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2419931 rs769768271 |
225 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs199577641 CA74644594 |
228 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352954910 rs1209105769 |
232 | N>S | No |
ClinGen gnomAD |
|
|
CA352954912 rs1209105769 |
232 | N>T | No |
ClinGen gnomAD |
|
|
CA74644571 rs371376746 |
233 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2419929 rs544358335 |
233 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201634298 CA2419927 |
237 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352954797 rs1575983534 |
238 | V>G | No |
ClinGen Ensembl |
|
|
CA352954808 rs1373811515 |
238 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1575983532 CA352954773 |
240 | C>R | No |
ClinGen Ensembl |
|
|
rs780590017 CA2419925 |
240 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA352954769 rs1312474325 |
240 | C>Y | No |
ClinGen gnomAD |
|
|
CA352954740 rs1190049671 |
242 | P>S | No |
ClinGen Ensembl |
|
|
CA352954703 rs1169026456 |
244 | P>L | No |
ClinGen gnomAD |
|
|
CA2419924 rs376743036 |
245 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138916184 CA2419923 |
245 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352954695 rs376743036 |
245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763606547 CA2419922 |
246 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2419920 rs752271815 |
247 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs943434425 CA74644504 |
248 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2419918 rs189244040 |
249 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2419917 rs774081733 |
250 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1575983419 CA352954608 |
250 | Y>S | No |
ClinGen Ensembl |
|
|
rs770662400 CA2419916 |
252 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762880342 CA2419915 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2419914 rs769823296 |
253 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs769823296 CA2419913 |
253 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2419910 rs768974999 |
256 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352954507 rs1396813925 |
256 | F>L | No |
ClinGen gnomAD |
|
|
rs747268233 CA352954483 |
257 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs747268233 CA2419909 |
257 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs747268233 CA352954480 |
257 | Q>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NSE2
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| phosphatidylinositol 3-kinase complex | A protein complex capable of phosphatidylinositol 3-kinase activity and containing subunits of any phosphatidylinositol 3-kinase (PI3K) enzyme. These complexes are divided in three classes (called I, II and III) that differ for their presence across taxonomic groups and for the type of their constituents. Catalytic subunits of phosphatidylinositol 3-kinase enzymes are present in all 3 classes; regulatory subunits of phosphatidylinositol 3-kinase enzymes are present in classes I and III; adaptor proteins have been observed in class II complexes and may be present in other classes too. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-phosphatidylinositol-3-kinase regulator activity | Modulates the activity of the enzyme 1-phosphatidylinositol-3-kinase activity. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| protein kinase C-activating G protein-coupled receptor signaling pathway | The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG). |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2HJ53 | CISH | Cytokine-inducible SH2-containing protein | Bos taurus (Bovine) | PR |
| Q9PW70 | CISH | Cytokine-inducible SH2-containing protein | Gallus gallus (Chicken) | PR |
| Q62225 | Cish | Cytokine-inducible SH2-containing protein | Mus musculus (Mouse) | PR |
| O70512 | Cish | Cytokine-inducible SH2-containing protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLCVQGPRP | LLAVERTGQR | PLWAPSLELP | KPVMQPLPAG | AFLEEVAEGT | PAQTESEPKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDPEEDLLCI | AKTFSYLRES | GWYWGSITAS | EARQHLQKMP | EGTFLVRDST | HPSYLFTLSV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KTTRGPTNVR | IEYADSSFRL | DSNCLSRPRI | LAFPDVVSLV | QHYVASCTAD | TRSDSPDPAP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPALPMPKED | APSDPALPAP | PPATAVHLKL | VQPFVRRSSA | RSLQHLCRLV | INRLVADVDC |
| 250 | |||||
| LPLPRRMADY | LRQYPFQL |