Q96MG7
PR
Gene name |
NSMCE3 |
Protein name |
Non-structural maintenance of chromosomes element 3 homolog |
Names |
Non-SMC element 3 homolog, Hepatocellular carcinoma-associated protein 4, MAGE-G1 antigen, Melanoma-associated antigen G1, Necdin-like protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56160 |
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
3 structures for Q96MG7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5HVQ | X-ray | 292 A | D | 78-294 | PDB |
| 5WY5 | X-ray | 292 A | B | 78-294 | PDB |
| AF-Q96MG7-F1 | Predicted | AlphaFoldDB |
323 variants for Q96MG7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002486422 rs2043569702 RCV001347955 |
14 | Q>P | Lung disease, immunodeficiency, and chromosome breakage syndrome; [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002546801 RCV001336947 CA7446097 rs752251822 |
196 | T>A | Lung disease, immunodeficiency, and chromosome breakage syndrome; [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10602639 rs886037827 VAR_078021 RCV000412556 RCV000258643 |
209 | P>L | Lung disease, immunodeficiency, and chromosome breakage syndrome; Lung damage, immunodeficiency and chromosome breakage syndrome LICS; creates novel endoproteolytic cleavage sites compared to wild-type; loss of interaction with NSMCE4; loss of interaction with NSMCE1 [ClinVar, UniProt] | Yes |
TOPMed ClinGen ClinVar UniProt dbSNP |
|
CA7446059 RCV001529172 VAR_078022 RCV000258542 RCV000412499 rs199905054 |
264 | L>F | Lung disease, immunodeficiency, and chromosome breakage syndrome; Lung damage, immunodeficiency and chromosome breakage syndrome LICS; no loss of protein stability; loss of interaction with NSMCE4; decreased interaction with NSMCE1; decreased association with the SMC5-SMC6 complex; decreased DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA391485118 rs1373054901 |
2 | L>S | No |
ClinGen gnomAD |
|
|
CA268359594 rs918636850 |
3 | Q>P | No |
TOPMed gnomAD ClinGen |
|
|
rs747892810 CA7446262 |
5 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs781047561 CA7446261 |
7 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349878771 CA391485080 |
8 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA391485079 rs1349878771 |
8 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1424753789 CA391485072 |
9 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1412047860 CA391485074 |
9 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1424753789 CA391485070 |
9 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1170367553 CA391485067 |
10 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1477302009 CA391485066 |
10 | R>H | No |
ClinGen gnomAD |
|
|
rs751152137 CA7446259 |
11 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA268359592 rs751152137 |
11 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1200961720 CA391485056 |
12 | G>D | No |
gnomAD ClinGen |
|
|
rs1315729718 CA391485053 |
13 | G>S | No |
ClinGen TOPMed |
|
|
CA7446254 rs547945176 |
14 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA391485047 rs1219252264 |
14 | Q>K | No |
gnomAD ClinGen |
|
|
rs567740694 CA7446255 |
14 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs114318320 CA7446253 |
15 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA268359590 rs1045521365 |
16 | E>G | No |
ClinGen TOPMed |
|
|
rs916995203 CA268359591 |
16 | E>Q | No |
Ensembl ClinGen |
|
|
CA7446249 rs771073952 |
18 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs988612402 CA268359589 |
18 | D>H | No |
Ensembl ClinGen |
|
|
rs762874300 CA7446248 |
19 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773214385 RCV001298544 CA7446247 |
20 | D>G | No |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
|
rs1596145327 CA391485002 |
21 | W>G | No |
ClinGen Ensembl |
|
|
rs769604169 CA7446246 |
22 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7446244 COSM4148600 rs78199042 |
24 | S>G | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768468457 CA7446243 |
24 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7446240 rs757943251 |
25 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7446242 CA7446241 rs779510467 |
25 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1441482013 CA391484971 |
26 | N>H | No |
gnomAD ClinGen |
|
|
rs778412725 CA7446238 |
27 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778412725 CA391484960 |
27 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA391484956 rs1456269237 |
28 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 29 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915603812 CA391484937 |
31 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
rs915603812 CA268359587 |
31 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA268359586 rs991581750 |
32 | A>P | No |
TOPMed ClinGen |
|
|
rs551462981 CA391484928 CA7446236 |
33 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562938657 CA391484923 |
34 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7446233 rs562938657 |
34 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7446231 rs201005348 |
36 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201005348 CA7446230 |
36 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761816470 CA7446228 |
37 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA7446227 rs776658115 |
38 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1051606463 CA268359582 |
40 | R>G | No |
ClinGen Ensembl |
|
|
rs1420983185 CA391484888 |
40 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA268359581 rs994288624 |
42 | G>C | No |
TOPMed ClinGen |
|
|
CA268359580 rs897136249 |
44 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs775274071 CA7446224 |
45 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1258051341 CA391484855 |
45 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7446225 rs746746933 |
45 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483057522 CA391484842 |
47 | A>S | No |
gnomAD ClinGen |
|
|
rs745425573 CA391484834 |
48 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7446222 rs745425573 |
48 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778266826 CA391484833 |
49 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs1234663460 CA391484831 |
49 | S>N | No |
ClinGen TOPMed |
|
|
rs778266826 CA7446221 |
49 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs756709664 CA7446220 |
51 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1470594273 CA391484813 |
52 | R>C | No |
ClinGen TOPMed |
|
|
rs748685560 CA268359578 |
54 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs748685560 CA7446219 |
54 | P>Q | No |
ExAC gnomAD ClinGen |
|
|
CA391484801 rs1313910051 |
54 | P>S | No |
gnomAD ClinGen |
|
|
CA391484793 rs1401360728 |
56 | G>R | No |
ClinGen gnomAD |
|
|
rs1406084039 CA391484788 |
56 | G>V | No |
ClinGen TOPMed |
|
|
CA391484779 rs1360572745 |
58 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7446217 rs755348556 |
58 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA391484771 rs1481265646 |
59 | G>E | No |
TOPMed ClinGen |
|
|
CA391484748 rs750562363 |
63 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391484744 rs1423020102 |
63 | P>L | No |
gnomAD ClinGen |
|
|
CA391484747 rs750562363 |
63 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446212 rs750562363 |
63 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA268359577 rs1044217328 |
64 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA391484740 rs1044217328 |
64 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs761940752 CA7446210 |
64 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs776727229 CA7446209 |
65 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA268359576 rs564668521 |
65 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs561046945 CA7446208 |
66 | Q>R | No |
1000Genomes ExAC TOPMed ClinGen |
|
|
CA7446204 rs1555434900 |
68 | A>S | No |
ClinGen Ensembl |
|
|
CA391484718 rs1284301895 |
68 | A>V | No |
ClinGen TOPMed |
|
|
rs1266542075 CA391484716 |
69 | R>G | No |
gnomAD ClinGen |
|
|
rs771807924 CA7446202 |
69 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs771807924 CA391484713 |
69 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748738551 CA7446199 |
70 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA7446198 rs748738551 |
70 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs1353470322 CA391484706 |
71 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1220127008 CA391484707 |
71 | A>S | No |
ClinGen gnomAD |
|
|
rs757035560 CA268359575 |
72 | Q>H | No |
gnomAD ClinGen |
|
|
rs1275732374 CA391484699 |
72 | Q>R | No |
TOPMed ClinGen |
|
|
rs781706454 CA391484692 COSM296021 |
73 | A>G | large_intestine [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs781706454 CA7446196 |
73 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA7446193 rs780257004 |
74 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747438797 CA268359574 |
74 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs747438797 CA7446194 |
74 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs747438797 CA391484691 |
74 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780257004 CA268359573 |
74 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA391484688 rs1347868163 |
75 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA391484687 rs1347868163 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs955536075 CA268359572 |
76 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs201817511 CA7446191 |
76 | A>T | No |
1000Genomes ExAC ClinGen |
|
|
rs753966381 CA7446188 |
77 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA391484678 rs757473696 CA7446189 |
77 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7446187 rs141427820 |
78 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA268359571 rs893355014 RCV001295076 |
79 | P>L | No |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA391484668 rs1420155481 |
79 | P>S | No |
TOPMed ClinGen |
|
|
rs1260423680 CA391484665 |
80 | R>G | No |
ClinGen gnomAD |
|
|
rs1199604828 CA391484660 |
80 | R>S | No |
gnomAD ClinGen |
|
|
rs1408822775 CA391484662 |
80 | R>T | No |
ClinGen TOPMed |
|
|
CA268359570 rs374142856 |
81 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7446183 rs767248728 |
82 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7446181 rs774005900 |
83 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762514437 CA7446179 |
88 | K>E | No |
ClinGen ExAC |
|
|
rs1345203062 CA391484603 |
89 | V>M | No |
ClinGen TOPMed |
|
|
rs772676593 CA7446178 |
90 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA7446176 rs747490416 |
93 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214538643 CA391484575 |
94 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs545165451 CA7446172 |
97 | L>M | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA391484551 rs1198193320 |
97 | L>Q | No |
ClinGen gnomAD |
|
|
CA7446169 rs778022770 |
98 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756181366 CA7446168 |
98 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778022770 CA391484548 |
98 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767432123 CA7446167 |
100 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs576092950 CA7446165 |
101 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs145058546 RCV001322190 CA7446164 |
102 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs766058423 CA7446163 |
103 | K>M | No |
ExAC gnomAD ClinGen |
|
|
CA268359567 rs1029861226 |
103 | K>N | No |
gnomAD ClinGen |
|
|
CA268359566 COSM1323249 rs949806571 |
105 | P>A | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
CA268359565 rs375222448 |
105 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7446161 rs375222448 |
105 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 106 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268359564 rs915659811 |
107 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1328998993 CA391484470 |
110 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140957406 CA268359563 |
111 | I>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1172076086 CA391484461 |
111 | I>M | No |
gnomAD ClinGen |
|
|
rs761316328 CA7446158 |
111 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446156 rs371911165 |
113 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746278812 CA391484443 CA7446155 |
114 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1055432022 CA268359562 |
114 | H>R | No |
TOPMed ClinGen |
|
|
CA7446154 rs774836946 |
115 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391484436 rs1236762997 |
116 | I>V | No |
gnomAD ClinGen |
|
|
CA391484429 rs1189990202 |
117 | G>R | No |
gnomAD ClinGen |
|
|
CA391484421 rs1256340612 |
118 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7446153 rs771376884 |
118 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA391484420 rs1256340612 |
118 | D>V | No |
TOPMed gnomAD ClinGen |
|
|
CA268359560 rs920508322 |
119 | Y>C | No |
TOPMed ClinGen |
|
|
rs1296131509 CA391484416 |
119 | Y>H | No |
ClinGen TOPMed |
|
|
rs375581496 CA7446152 |
120 | K>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1288126602 CA391484403 |
121 | D>N | No |
ClinGen gnomAD |
|
|
rs756161599 CA7446150 |
122 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA391484394 rs1352835893 |
122 | I>V | No |
gnomAD ClinGen |
|
|
rs1246819688 CA391484387 |
123 | F>V | No |
ClinGen TOPMed |
|
|
CA7446149 rs748247488 |
124 | P>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 124 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391484375 rs1596144714 |
125 | D>N | No |
ClinGen Ensembl |
|
|
rs961839737 CA391484368 |
126 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs961839737 CA268359559 |
126 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA7446148 rs781058298 |
127 | F>I | No |
ExAC gnomAD ClinGen |
|
|
rs751403960 CA7446147 |
127 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs377386735 CA7446145 |
128 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268359558 rs555995547 |
130 | A>D | No |
ClinGen gnomAD |
|
|
rs1378944130 CA391484336 |
131 | A>G | No |
ClinGen gnomAD |
|
|
rs1190857853 CA391484333 |
132 | E>Q | No |
TOPMed ClinGen |
|
|
rs758146372 CA391484326 |
133 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446144 RCV001351142 rs758146372 |
133 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA268359556 rs111645067 |
134 | L>P | No |
ClinGen Ensembl |
|
|
rs987727546 CA268359555 |
138 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA391484283 rs1186361344 |
139 | G>E | No |
ClinGen gnomAD |
|
|
CA391484287 rs1368734572 |
139 | G>R | No |
gnomAD ClinGen |
|
|
CA391484257 rs1484463680 |
143 | V>A | No |
ClinGen gnomAD |
|
|
CA391484256 rs1484463680 |
143 | V>G | No |
gnomAD ClinGen |
|
|
rs1044334225 CA268359554 |
143 | V>L | No |
Ensembl ClinGen |
|
|
CA7446141 rs761300494 |
144 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446142 rs764882702 |
144 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA7446140 rs776179044 |
147 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs767960547 CA7446139 |
148 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs774959830 CA7446138 |
148 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7446137 rs774959830 |
148 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774959830 CA268359553 |
148 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA268359552 rs368771996 |
149 | S>N | No |
ESP TOPMed ClinGen |
|
|
rs1231715348 CA391484220 |
149 | S>R | No |
gnomAD ClinGen |
|
|
rs771428256 CA7446135 |
150 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA391484209 rs1399408053 |
151 | T>S | No |
gnomAD ClinGen |
|
|
CA7446132 rs755713372 |
152 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs375296124 CA391484202 |
152 | Y>* | No |
ESP ExAC TOPMed ClinGen |
|
|
rs773365697 CA7446133 |
152 | Y>D | No |
ExAC gnomAD ClinGen |
|
|
CA268359551 rs773365697 |
152 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs748216127 CA7446130 |
153 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754962714 CA7446128 |
155 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA391484183 rs1596144574 |
155 | I>M | No |
Ensembl ClinGen |
|
|
rs746976488 CA7446127 |
156 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs758199237 CA7446125 |
157 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA268359549 rs753386581 |
159 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763694592 CA7446120 |
159 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs753386581 CA7446121 |
159 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA268359548 rs925705029 |
160 | P>L | No |
ClinGen gnomAD |
|
|
rs760197109 CA7446119 |
163 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1349615545 CA391484136 |
163 | E>D | No |
TOPMed ClinGen |
|
|
rs752127364 CA7446118 |
164 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766979952 CA7446116 |
165 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1258867 rs1346795302 CA391484125 |
165 | A>V | oesophagus [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA391484118 rs1203009614 |
166 | E>G | No |
TOPMed ClinGen |
|
|
CA7446113 rs773595085 |
167 | M>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA391484100 rs1596144500 |
168 | R>S | No |
ClinGen Ensembl |
|
|
rs1330969883 CA391484096 |
169 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762115330 CA7446111 |
170 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs769956936 CA7446112 |
170 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs776673697 CA7446110 |
172 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768724059 CA7446108 |
173 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA391484070 rs1408909639 |
173 | T>M | No |
ClinGen gnomAD |
|
|
rs943029062 CA268359546 |
174 | P>A | No |
gnomAD ClinGen |
|
|
CA391484067 rs1362875564 |
174 | P>H | No |
ClinGen TOPMed |
|
|
rs747029311 RCV000974362 CA7446107 |
175 | T>I | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA7446106 rs780020700 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7446105 rs771970185 |
176 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268359545 rs910255063 |
177 | G>D | No |
ClinGen TOPMed |
|
|
CA391484051 rs910255063 |
177 | G>V | No |
TOPMed ClinGen |
|
|
rs986105161 CA268359544 |
179 | L>P | No |
TOPMed ClinGen |
|
|
rs571553835 CA7446104 |
181 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571553835 CA391484030 |
181 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1400077448 CA391484024 |
182 | V>L | No |
TOPMed ClinGen |
|
|
CA391484004 rs1219816221 |
185 | L>F | No |
ClinGen gnomAD |
|
|
rs1307921637 CA391483997 |
186 | I>N | No |
ClinGen TOPMed |
|
|
rs955665269 CA268359543 |
186 | I>V | No |
gnomAD ClinGen |
|
|
CA7446101 RCV000910687 rs141619303 |
191 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753534458 CA7446100 |
192 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs1331055673 CA391483951 |
193 | I>V | No |
gnomAD ClinGen |
|
|
CA391483944 rs1441059885 |
194 | K>E | No |
ClinGen gnomAD |
|
|
CA7446099 rs374077807 |
194 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1254178152 CA391483920 |
197 | E>G | No |
ClinGen TOPMed |
|
|
CA7446095 rs531722621 |
198 | A>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA7446094 rs148911736 |
198 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370108990 CA7446093 |
200 | D>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs762013842 CA7446091 |
202 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs762013842 CA268359541 |
202 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA7446089 rs776920583 |
203 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776920583 CA268359540 |
203 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM162852 rs1441889420 CA391483880 |
204 | R>C | breast [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs1567116756 CA391483879 |
204 | R>H | No |
ClinGen Ensembl |
|
|
CA7446086 rs61749506 |
207 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377721555 CA7446084 |
208 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs377721555 CA7446083 |
208 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268359538 rs1014558827 |
209 | P>A | No |
gnomAD ClinGen |
|
|
CA391483851 rs1014558827 |
209 | P>S | No |
gnomAD ClinGen |
|
|
rs770773702 CA7446081 |
210 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs770773702 CA7446082 |
210 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391483832 rs1310490469 |
212 | K>R | No |
gnomAD ClinGen |
|
|
CA391483785 rs1158187937 |
218 | D>E | No |
gnomAD ClinGen |
|
|
rs752302932 CA7446077 |
220 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446076 rs780869802 |
220 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA391483769 rs1182630906 |
221 | K>T | No |
ClinGen gnomAD |
|
|
rs754497956 CA7446075 |
223 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7446074 rs750941906 |
224 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA391483734 rs1488907939 |
226 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7446073 rs765601244 |
226 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757696079 CA7446072 |
227 | F>C | No |
ExAC gnomAD ClinGen |
|
|
CA391483692 rs1314481622 |
233 | L>V | No |
gnomAD ClinGen |
|
|
CA391483662 rs1228563953 |
237 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391483650 rs1290908656 |
239 | P>L | No |
ClinGen gnomAD |
|
|
rs1401301689 CA391483647 |
240 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1401301689 CA391483646 |
240 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs921352989 COSM960305 CA268359537 |
241 | T>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs904397315 CA268359536 |
241 | T>S | No |
ClinGen Ensembl |
|
|
rs1265763255 CA391483632 |
242 | D>G | No |
TOPMed ClinGen |
|
|
CA391483634 rs1191014983 |
242 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 243 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268359535 rs1042783692 |
244 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
CA391483610 rs1351432656 |
245 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759477729 CA7446066 |
247 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196023535 CA391483578 |
250 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA391483564 rs1165637704 |
251 | G>V | No |
TOPMed ClinGen |
|
|
CA391483558 rs1366451264 |
252 | P>L | No |
ClinGen TOPMed |
|
|
CA7446064 rs529284773 |
254 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000881551 CA7446062 rs151276938 |
255 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA7446063 rs151276938 |
255 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201554913 CA268359533 |
258 | T>A | No |
1000Genomes ClinGen |
|
|
rs769662066 CA7446061 |
261 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA391483487 rs1291540628 |
263 | V>D | No |
ClinGen TOPMed |
|
|
CA7446058 rs754525489 |
265 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA391483458 rs1567116595 |
268 | A>P | No |
Ensembl ClinGen |
|
|
rs1567116595 CA391483459 |
268 | A>T | No |
Ensembl ClinGen |
|
|
CA391483455 rs1382707085 |
268 | A>V | No |
ClinGen TOPMed |
|
|
CA7446057 rs746482871 |
269 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7446056 rs779538557 |
270 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs1596144072 CA391483437 |
271 | H>R | No |
Ensembl ClinGen |
|
|
CA391483429 rs1294179115 |
272 | N>S | No |
ClinGen gnomAD |
|
|
CA391483431 rs1340560807 |
272 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567116576 CA391483408 |
275 | P>A | No |
ClinGen Ensembl |
|
|
rs754296553 CA7446054 |
275 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs987175109 CA268359532 |
276 | K>E | No |
Ensembl ClinGen |
|
|
rs764476398 CA7446053 |
276 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs934199935 CA268359531 |
277 | D>N | No |
ClinGen gnomAD |
|
|
rs922886426 CA268359530 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA7446050 rs767713375 |
282 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs113776441 CA268359529 |
283 | C>R | No |
Ensembl ClinGen |
|
|
CA7446044 COSM1216890 rs375268217 |
287 | A>V | large_intestine [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs762819329 CA7446043 |
289 | E>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001318504 rs772183398 |
290 | E>missing | No |
ClinVar dbSNP |
|
|
rs140913580 CA391483284 |
293 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7446041 rs140913580 RCV001300641 |
293 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA7446039 rs776476342 |
297 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7446038 rs776476342 |
297 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268359527 rs147308690 |
298 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147308690 CA7446037 |
298 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA268359526 rs371464776 |
299 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7446036 rs746567225 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391483236 rs1163030015 |
301 | A>D | No |
ClinGen TOPMed |
|
|
CA391483234 rs1163030015 |
301 | A>V | No |
TOPMed ClinGen |
|
|
CA391483228 rs1346675657 |
302 | P>L | No |
TOPMed ClinGen |
|
|
rs898937538 CA268359524 |
303 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA391483226 rs1395958423 |
303 | S>P | No |
ClinGen gnomAD |
1 associated diseases with Q96MG7
[MIM: 617241]: Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)
An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. {ECO:0000269|PubMed:27427983}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. {ECO:0000269|PubMed:27427983}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96MG7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96MG7 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| Smc5-Smc6 complex | A conserved complex that contains a heterodimer of SMC proteins (Smc5p and Smc6p, or homologs thereof) and several other proteins, and is involved in DNA repair and maintaining cell cycle arrest following DNA damage. In S. cerevisiae, this is an octameric complex called Mms21-Smc5-Smc6 complex, with at least five of its subunits conserved in fission yeast and humans. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to hydroxyurea | 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 hydroxyurea stimulus. |
| cellular response to radiation | 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 electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. |
| cellular response to UV | 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair via homologous recombination | The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| protein sumoylation | The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein. |
| regulation of telomere maintenance | Any process that modulates the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43356 | MAGEA2B | Melanoma-associated antigen 2 | Homo sapiens (Human) | PR |
| O15479 | MAGEB2 | Melanoma-associated antigen B2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| Q8TD90 | MAGEE2 | Melanoma-associated antigen E2 | Homo sapiens (Human) | PR |
| Q9BZ81 | MAGEB5 | Melanoma-associated antigen B5 | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| P43364 | MAGEA11 | Melanoma-associated antigen 11 | Homo sapiens (Human) | PR |
| Q9UNF1 | MAGED2 | Melanoma-associated antigen D2 | Homo sapiens (Human) | PR |
| Q9Y5V3 | MAGED1 | Melanoma-associated antigen D1 | Homo sapiens (Human) | PR |
| Q96JG8 | MAGED4B | Melanoma-associated antigen D4 | Homo sapiens (Human) | PR |
| Q9CPR8 | Nsmce3 | Non-structural maintenance of chromosomes element 3 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLQKPRNRGR | SGGQAERDRD | WSHSGNPGAS | RAGEDARVLR | DGFAEEAPST | SRGPGGSQGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QGPSPQGARR | AQAAPAVGPR | SQKQLELKVS | ELVQFLLIKD | QKKIPIKRAD | ILKHVIGDYK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DIFPDLFKRA | AERLQYVFGY | KLVELEPKSN | TYILINTLEP | VEEDAEMRGD | QGTPTTGLLM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVLGLIFMKG | NTIKETEAWD | FLRRLGVYPT | KKHLIFGDPK | KLITEDFVRQ | RYLEYRRIPH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDPVDYEFQW | GPRTNLETSK | MKVLKFVAKV | HNQDPKDWPA | QYCEALADEE | NRARPQPSGP |
| APSS |