Q9UQE7
PR
Gene name |
SMC3 (BAM, BMH, CSPG6, SMC3L1) |
Protein name |
Structural maintenance of chromosomes protein 3 |
Names |
SMC protein 3, SMC-3, Basement membrane-associated chondroitin proteoglycan, Bamacan, Chondroitin sulfate proteoglycan 6, Chromosome-associated polypeptide, hCAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9126 |
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
421 variants for Q9UQE7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1860796091 RCV001198308 |
3 | I>V | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554881901 CA378369475 RCV000534058 |
42 | F>S | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000201864 rs863225258 CA279574 |
47 | F>L | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000760292 CA213226657 rs866273473 |
61 | R>W | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869312672 CA090929 RCV000209912 |
95 | E>K | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554882313 RCV000623304 CA378373735 |
123 | N>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000790518 CA378373770 COSM914738 rs1590553017 |
124 | L>R | endometrium Cornelia de Lange syndrome 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000147597 rs113411202 CA272635 |
126 | E>G | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857247 CA378373836 rs748876063 |
127 | S>R | De Lange syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA378374140 RCV000541678 rs1554882316 |
142 | G>R | Variant assessed as Somatic; impact. Cornelia de Lange syndrome 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000191131 rs797045070 CA276168 |
196 | I>T | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705877 CA378376438 rs1564789897 |
221 | R>* | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263106 rs1861038686 |
221 | R>Q | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201849 rs863225259 |
235 | T>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587784429 CA272641 RCV000147600 |
236 | R>P | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs797045997 RCV000192327 |
287 | E>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1861062802 RCV001106104 |
310 | K>R | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988450 rs1590556378 CA378379525 |
311 | D>G | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5687843 rs755859881 RCV001409064 |
320 | S>T | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1590556722 RCV000768435 |
358 | E>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1861074646 RCV001072116 |
380 | G>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083979 | 380 | G>del | CDLS3 [UniProt] | Yes | UniProt |
|
CA5687909 RCV002316170 rs555886077 |
414 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002312977 rs142524280 CA272599 RCV000147576 |
427 | K>R | Cornelia de Lange syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1861177028 RCV001106105 |
444 | V>I | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1861180589 RCV001270789 |
473 | W>C | Cornelia de Lange syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260834 rs1861180567 RCV001879997 |
473 | W>R | Intellectual disability Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5687972 RCV000526796 rs758758728 |
484 | A>G | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1564792181 RCV000680264 |
485 | A>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225260 RCV000201866 CA279577 |
488 | E>K | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863223279 RCV000004894 |
488 | E>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_032845 | 491 | E>del | CDLS3; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins [UniProt] | Yes | UniProt |
|
CA378388904 rs1246875158 RCV002314475 |
519 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768778247 RCV000340712 CA10634914 |
520 | R>S | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1590563617 CA378390520 RCV000809857 |
642 | L>P | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM126325 CA10603115 rs886041239 RCV000319826 RCV002051833 RCV000721938 |
648 | M>V | upper_aerodigestive_tract Cornelia de lange syndrome 3 (cdls3) Intellectual disability Cornelia de Lange syndrome 3 [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs587784425 RCV000147580 CA272608 |
655 | G>D | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000201859 CA279571 rs863225261 |
666 | G>A | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA378391707 rs776056911 RCV000503251 COSM465252 |
669 | Y>D | kidney Variant assessed as Somatic; impact. Cornelia de Lange syndrome 3 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001262901 rs755507236 RCV002418866 |
688 | E>missing | Cornelia de Lange syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5688100 RCV001566811 RCV000307193 rs201162818 |
688 | E>Q | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000680265 rs1564794233 CA378391950 |
704 | I>T | Cornelia de lange syndrome 3 (cdls3) Variant assessed as Somatic; impact. Cornelia de Lange syndrome 3 [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA378392015 RCV000790619 rs1590567899 |
711 | I>T | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA378392219 rs1590567950 RCV000988451 |
739 | M>V | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000147582 CA272611 rs76568464 |
755 | P>L | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001267606 rs1861357947 |
780 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272618 rs587784427 RCV000147586 |
780 | E>Q | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478672 RCV001291379 CA5688172 rs760111391 |
805 | R>C | Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1861369323 RCV001267657 |
832 | L>P | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000592058 CA5688195 rs777828072 RCV002431753 RCV001854070 |
833 | N>S | Cornelia de Lange syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000194687 CA277358 rs797045996 |
879 | R>P | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5688273 rs775665831 RCV001105053 |
886 | S>A | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA272626 RCV000147592 rs112281749 |
904 | W>R | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000190665 rs797044861 CA204618 RCV000201868 |
917 | H>P | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027668 rs1590571077 |
985 | K>missing | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1861395935 RCV001262371 |
1003 | R>C | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1278347837 CA378394461 RCV001007881 |
1034 | K>R | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001726096 rs147743879 RCV002321977 CA5688380 RCV000378492 |
1087 | V>I | Cornelia de Lange syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA378395088 rs1564796294 RCV000680266 |
1121 | S>F | Cornelia de lange syndrome 3 (cdls3) Cornelia de Lange syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs901512521 RCV000499559 CA378395107 |
1125 | L>V | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA378395168 RCV000641657 rs1554884207 |
1134 | C>R | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1861409519 RCV001265880 |
1147 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1861413861 RCV001043884 |
1163 | E>G | Cornelia de Lange syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA378395561 RCV000857235 rs1590572104 |
1188 | G>V | De Lange syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350338348 CA378367591 |
4 | K>N | No |
ClinGen gnomAD |
|
|
rs890348077 CA213218941 |
4 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 10 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 15 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5687609 rs780355125 |
24 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378368163 rs1248980460 |
27 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA213225509 rs79203236 |
38 | K>E | No |
ClinGen Ensembl |
|
|
CA378369419 rs1182362356 |
40 | N>K | No |
ClinGen TOPMed |
|
| rs1466680694 | 43 | Y>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488636661 CA378369788 |
45 | I>V | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378369828 rs1176119437 |
48 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879158286 CA213226636 |
52 | E>A | No |
ClinGen Ensembl |
|
|
rs1214949585 CA378369882 |
52 | E>K | No |
ClinGen TOPMed |
|
|
rs1473519917 CA378369914 |
54 | S>N | No |
ClinGen gnomAD |
|
|
CA378369938 rs1159760043 |
55 | H>R | No |
ClinGen gnomAD |
|
|
rs747590114 CA5687644 |
56 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771561635 CA5687645 |
57 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1564788385 CA378369959 |
57 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 61 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378370057 rs1353379013 |
65 | L>* | No |
ClinGen TOPMed |
|
|
CA378370077 rs1287384889 |
66 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378371582 rs1261608909 |
76 | A>T | No |
ClinGen TOPMed |
|
|
CA378371928 rs1554882236 RCV000501814 |
86 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs769614864 | 91 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378372314 rs1345184300 |
91 | I>V | No |
ClinGen TOPMed |
|
|
RCV000501682 rs1554882266 CA378372335 |
92 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769145720 CA5687694 |
96 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407886381 CA378372554 |
101 | V>I | No |
ClinGen gnomAD |
|
|
CA5687695 rs774721996 |
112 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1207398077 CA378373648 |
119 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000488068 rs1064797151 |
129 | G>missing | No |
ClinVar dbSNP |
|
|
COSM914739 rs1163438093 CA378373897 |
131 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5687731 rs370788296 |
137 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
| rs903749379 | 144 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405221526 CA378375100 |
147 | M>V | No |
ClinGen Ensembl |
|
|
CA5687753 rs747493783 |
150 | A>S | No |
ClinGen ExAC |
|
| TCGA novel | 154 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188423288 CA378375364 |
159 | L>V | No |
ClinGen gnomAD |
|
|
CA378375644 rs1386121584 |
176 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16605599 RCV000443224 rs1057521663 |
188 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762553212 CA5687785 |
201 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5687786 rs367803262 |
208 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751868443 CA5687787 |
212 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA595713927 rs1429170975 |
225 | Y>* | No |
ClinGen gnomAD |
|
|
rs1590555283 CA918760249 |
225 | Y>* | No |
ClinGen Ensembl |
|
|
rs1306329039 CA595713929 |
226 | T>LN* | No |
ClinGen gnomAD |
|
|
rs1590555285 CA378377244 |
226 | T>N | No |
ClinGen Ensembl |
|
|
rs1311723331 CA378377344 |
230 | Q>H | No |
ClinGen TOPMed |
|
|
CA5687789 rs781478694 |
233 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5687791 rs756625539 |
236 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587784429 CA213231176 |
236 | R>H | Cornelia de lange syndrome 3 (cdls3) Variant assessed as Somatic; impact. [Ensembl, NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780147217 CA5687792 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1277812667 CA378377764 |
242 | L>F | No |
ClinGen gnomAD |
|
|
rs1243578031 CA378378017 |
253 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356965192 CA378378188 |
261 | Q>* | No |
ClinGen gnomAD |
|
|
rs1186869366 CA378378221 |
262 | D>E | No |
ClinGen gnomAD |
|
|
CA378378222 rs1332547959 |
263 | A>T | No |
ClinGen TOPMed |
|
|
CA378378238 rs1250138701 |
263 | A>V | No |
ClinGen gnomAD |
|
|
rs1413563965 CA378378265 |
265 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1590556318 CA378378622 |
272 | R>C | No |
ClinGen Ensembl |
|
|
rs777875328 CA5687841 |
280 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400979490 CA378378833 |
283 | A>G | No |
ClinGen gnomAD |
|
|
rs1347572810 CA378379128 |
293 | A>T | No |
ClinGen gnomAD |
|
|
rs745613165 CA5687842 |
293 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs867575385 CA213232149 |
298 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000493296 rs1131691432 CA378379283 |
300 | K>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1290030566 CA596112117 |
319 | N>* | No |
ClinGen gnomAD |
|
|
rs779885552 CA378379821 RCV000658118 |
322 | Q>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5687844 rs779885552 |
322 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5687868 rs771478239 |
325 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369244486 CA5687869 |
331 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378380414 rs1427301816 |
337 | I>V | No |
ClinGen gnomAD |
|
|
rs1275561857 CA378380675 |
345 | A>G | No |
ClinGen TOPMed |
|
|
CA378380730 rs1590556703 |
348 | E>G | No |
ClinGen Ensembl |
|
|
CA5687871 rs145610953 |
350 | K>R | No |
ClinGen ESP ExAC |
|
|
rs1385234230 CA378380846 |
352 | N>S | No |
ClinGen gnomAD |
|
|
rs759994432 CA5687873 |
353 | S>N | No |
ClinGen ExAC |
|
|
rs759994432 CA213232414 |
353 | S>T | No |
ClinGen ExAC |
|
| TCGA novel | 360 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5687897 rs774242557 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767656062 CA5687899 |
369 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1280043872 CA378382874 |
372 | R>T | No |
ClinGen TOPMed |
|
|
CA213232624 COSM1188053 rs377731006 |
373 | T>M | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
RCV001264677 rs1861074510 |
374 | D>A | No |
ClinVar dbSNP |
|
|
CA213232640 CA213232644 rs147721344 |
390 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA378383524 rs1289695311 |
393 | K>R | No |
ClinGen gnomAD |
|
|
CA5687904 rs758220817 |
399 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA378383689 rs758220817 |
399 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764106476 CA5687905 |
403 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5687906 rs751049712 |
405 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5687907 rs756824720 |
413 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5687910 rs755834841 |
417 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA378384307 COSM1345762 rs1167274940 |
418 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 423 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991103223 CA213232705 |
430 | N>S | No |
ClinGen Ensembl |
|
|
rs768984487 CA5687912 |
432 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 433 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748720164 CA5687914 |
434 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1359453893 CA378387047 |
439 | Q>K | No |
ClinGen gnomAD |
|
|
CA5687937 rs747126139 |
442 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs770991918 CA378387074 |
442 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378387128 rs1204923879 |
450 | E>A | No |
ClinGen gnomAD |
|
|
CA5687945 rs760234937 |
461 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5687947 rs370302318 |
462 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378387370 rs1471165098 |
463 | D>E | No |
ClinGen gnomAD |
|
|
CA5687950 rs753091273 |
470 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs765889443 CA5687967 |
471 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447599418 CA378387637 |
475 | E>K | No |
ClinGen gnomAD |
|
|
CA5687970 rs764891447 |
477 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1490996610 CA378387697 |
478 | A>G | No |
ClinGen gnomAD |
|
|
rs797045995 RCV000193639 |
478 | A>missing | No |
ClinVar dbSNP |
|
|
rs752993226 CA5687971 |
482 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378388168 rs1564792195 |
497 | L>V | No |
ClinGen Ensembl |
|
|
rs1283003337 CA378388703 |
504 | A>V | No |
ClinGen TOPMed |
|
|
CA5687991 rs762645837 |
509 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1064793598 RCV000484165 |
513 | N>missing | No |
ClinVar dbSNP |
|
|
CA213239348 rs377039037 |
513 | N>D | No |
ClinGen Ensembl |
|
|
CA213239349 rs190230933 |
513 | N>S | No |
ClinGen 1000Genomes |
|
|
rs751904655 CA5687993 |
518 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768778247 CA213239363 |
520 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1338060180 CA378388910 |
520 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 521 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565446402 CA213239370 |
524 | I>V | No |
ClinGen gnomAD |
|
|
rs148832992 CA5687995 |
525 | N>S | No |
ClinGen ESP ExAC |
|
|
rs756254563 CA5687997 |
527 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5687999 rs755288447 |
532 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5688000 rs200551010 |
533 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266622192 CA378389072 |
533 | H>R | No |
ClinGen gnomAD |
|
|
CA378389086 rs1204165949 |
534 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396859037 CA378389110 |
536 | V>I | No |
ClinGen gnomAD |
|
|
rs1379152281 CA378389213 |
543 | E>G | No |
ClinGen TOPMed |
|
|
CA5688002 rs770843121 |
547 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 548 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295007456 CA378389284 |
549 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688004 rs745865113 |
554 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5688005 rs769273592 |
557 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 562 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767014638 RCV000731211 CA5688033 COSM914742 |
570 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1305815521 CA378389614 |
571 | K>R | No |
ClinGen gnomAD |
|
|
rs1314834961 CA378389654 |
574 | M>T | No |
ClinGen gnomAD |
|
|
rs753910640 CA5688034 |
579 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034759589 CA213239762 |
582 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 591 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688037 rs752841079 |
591 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs889672664 CA213239784 |
595 | V>I | No |
ClinGen Ensembl |
|
|
rs780811321 CA5688039 |
600 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5688040 rs750243581 |
601 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688042 rs571241713 |
604 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378390208 rs1167350115 |
608 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378390294 rs1356601460 |
614 | R>K | No |
ClinGen gnomAD |
|
|
rs549745728 CA5688061 |
617 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764317031 CA5688063 |
620 | D>N | No |
ClinGen ExAC |
|
|
rs758004082 CA5688065 |
625 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378390461 rs1485984253 |
634 | R>C | No |
ClinGen gnomAD |
|
|
CA378390476 rs1309020991 |
636 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747717795 CA5688070 |
637 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA213241366 rs868792707 |
644 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 644 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378390539 rs1174458514 |
646 | F>V | No |
ClinGen TOPMed |
|
|
CA5688073 rs746726207 |
647 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5688074 rs771399557 |
651 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 656 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378391683 rs1156392036 |
665 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA213244624 rs923914023 |
668 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 668 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688097 rs776056911 |
669 | Y>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1275629421 CA378391779 |
679 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 681 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688101 rs761986374 |
688 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs377463176 CA213244697 |
690 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5688103 rs776233444 |
690 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs758069548 CA213244716 |
691 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1009982429 CA213244720 |
696 | L>I | No |
ClinGen Ensembl |
|
|
rs1175127607 CA378391899 |
697 | N>D | No |
ClinGen gnomAD |
|
|
CA378391902 rs1381585229 |
697 | N>S | No |
ClinGen gnomAD |
|
|
CA213244724 rs942871036 |
699 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 700 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688104 rs371216768 |
701 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 711 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378392040 rs1240653420 |
714 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 722 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 723 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141257272 CA5688129 |
724 | Q>E | No |
ClinGen ESP ExAC |
|
|
rs1372477853 CA378392145 |
728 | F>Y | No |
ClinGen gnomAD |
|
|
rs1172633454 CA378392161 |
730 | A>E | No |
ClinGen gnomAD |
|
|
CA213246054 rs927477513 |
734 | S>T | No |
ClinGen Ensembl |
|
|
CA5688131 rs764137886 |
735 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs376690548 CA5688132 |
737 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371259753 CA213246059 |
740 | K>Q | No |
ClinGen ESP |
|
|
CA213246093 rs74515128 |
744 | E>G | No |
ClinGen Ensembl |
|
|
CA213246098 rs752744389 |
745 | K>R | No |
ClinGen Ensembl |
|
|
CA5688134 rs766990904 |
746 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 748 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378392319 rs1564794822 |
752 | T>I | No |
ClinGen Ensembl |
|
|
CA378392341 rs76568464 |
755 | P>R | No |
ClinGen gnomAD |
|
|
CA378392459 rs1205108755 |
757 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs997504817 CA213247487 |
758 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 761 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA213247494 rs868553626 |
766 | S>R | No |
ClinGen Ensembl |
|
|
rs1181365112 CA378392551 |
770 | M>V | No |
ClinGen gnomAD |
|
|
rs1362094253 CA378392564 |
771 | E>G | No |
ClinGen gnomAD |
|
|
CA213247517 rs569206678 |
774 | R>G | No |
ClinGen gnomAD |
|
|
CA378392581 rs1365547165 |
774 | R>K | No |
ClinGen gnomAD |
|
|
CA378392599 rs1295711282 |
776 | S>L | No |
ClinGen gnomAD |
|
|
rs781558489 CA5688165 |
778 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378392663 rs1358716769 |
786 | L>P | No |
ClinGen gnomAD |
|
|
CA378392665 rs1219296201 |
787 | S>T | No |
ClinGen gnomAD |
|
|
CA378392677 rs1466940124 |
788 | Q>H | No |
ClinGen gnomAD |
|
|
CA5688169 rs748082231 |
795 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 798 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236628703 CA378392766 |
801 | N>S | No |
ClinGen gnomAD |
|
|
rs1441581516 CA378392787 |
804 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 807 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 813 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA213248188 rs868857165 |
814 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445235109 CA378392992 |
831 | Y>F | No |
ClinGen gnomAD |
|
|
CA5688196 rs764573826 |
838 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751984826 CA5688197 |
840 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751382212 CA5688238 |
847 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5688240 rs781100559 |
851 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781100559 CA378393141 |
851 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156740615 CA378393146 |
852 | E>Q | No |
ClinGen gnomAD |
|
|
CA5688241 rs745863058 |
856 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA213248731 rs1019278406 |
856 | G>C | No |
ClinGen Ensembl |
|
|
CA378393181 rs1398680444 |
857 | T>S | No |
ClinGen TOPMed |
|
|
rs779651869 CA5688243 |
858 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5688242 rs769269456 |
858 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA378393193 rs1438829298 |
860 | T>P | No |
ClinGen gnomAD |
|
|
CA378393290 rs1355112150 |
874 | K>R | No |
ClinGen gnomAD |
|
|
CA378393298 rs1288079938 |
875 | D>A | No |
ClinGen gnomAD |
|
|
rs1222413620 CA378393297 |
875 | D>Y | No |
ClinGen gnomAD |
|
|
rs1453713148 CA378393304 |
876 | T>A | No |
ClinGen gnomAD |
|
|
CA5688247 rs776260612 |
877 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378393325 rs797045996 |
879 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 883 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464201904 CA378393392 |
887 | I>V | No |
ClinGen gnomAD |
|
|
rs763199067 CA5688274 |
889 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767257344 CA5688275 |
892 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA213249156 rs1017936312 |
893 | G>E | No |
ClinGen TOPMed |
|
|
CA5688276 rs750237224 |
898 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5688277 rs755944078 |
900 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM914745 CA5688279 rs766348585 |
903 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766348585 CA5688278 |
903 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378393505 rs754501454 |
903 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754501454 CA5688280 |
903 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA378393535 rs1283753169 |
907 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5688281 rs778619317 |
910 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1590570855 CA378393578 RCV000994503 |
912 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000781857 rs1564795916 CA378393639 |
921 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 921 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202034783 CA242454 RCV000176487 |
928 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA213249191 rs202034783 |
928 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378393708 rs1424694755 |
931 | M>V | No |
ClinGen gnomAD |
|
|
CA5688283 rs758156711 |
932 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 936 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255474767 CA378393767 |
939 | C>R | No |
ClinGen gnomAD |
|
|
rs1185927710 CA378393788 |
941 | K>R | No |
ClinGen TOPMed |
|
|
rs139627416 RCV000627306 CA213249202 COSM107515 |
944 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
| TCGA novel | 950 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 951 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378393879 rs1402285512 |
955 | E>K | No |
ClinGen gnomAD |
|
|
rs781713638 CA5688287 |
957 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5688288 rs746411045 |
958 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1253674855 CA378393906 |
958 | Q>H | No |
ClinGen gnomAD |
|
|
CA5688289 rs769886209 |
958 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5688291 rs763108958 |
963 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378393944 rs1487184421 |
964 | Q>R | No |
ClinGen gnomAD |
|
|
rs774545380 CA5688310 |
967 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM914747 CA5688311 rs761995373 |
967 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779728219 CA213249427 |
971 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 974 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688315 rs752190321 |
984 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 985 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 998 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5688319 rs756890463 |
1001 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA378394301 rs1564796049 |
1011 | Y>F | No |
ClinGen Ensembl |
|
|
rs781567422 CA5688320 |
1012 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5688321 rs750762654 |
1012 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378394324 COSM3665492 rs1459161789 |
1015 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1178257620 CA378394336 |
1016 | E>G | No |
ClinGen gnomAD |
|
|
CA378394362 rs1554884156 RCV000595382 |
1020 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA213249542 rs866012032 |
1024 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778904459 COSM914748 CA5688325 |
1024 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1378418015 CA378394435 |
1030 | Q>H | No |
ClinGen gnomAD |
|
|
CA378394436 rs776429768 |
1031 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs372599261 CA213249882 |
1041 | S>G | No |
ClinGen gnomAD |
|
|
rs372599261 CA378394520 |
1041 | S>R | No |
ClinGen gnomAD |
|
|
CA5688365 rs758397012 |
1041 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs777948338 CA5688366 |
1045 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1051 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378394596 rs1365543018 |
1052 | K>E | No |
ClinGen gnomAD |
|
|
CA5688369 rs779933268 |
1057 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1479533016 CA378394686 |
1065 | S>R | No |
ClinGen TOPMed |
|
| rs773760564 | 1071 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378394755 rs749094580 |
1074 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749094580 CA5688371 |
1074 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378394769 rs1288547829 |
1076 | E>G | No |
ClinGen gnomAD |
|
|
rs778699955 CA5688373 |
1079 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759660222 CA213249909 |
1082 | G>V | No |
ClinGen Ensembl |
|
|
CA5688374 rs748168136 |
1084 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs771455552 CA5688375 |
1084 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs760275709 CA5688377 |
1085 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5688379 rs145702274 |
1086 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5688381 rs765693201 |
1088 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5688382 rs765693201 |
1088 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348417488 CA378394853 |
1090 | V>I | No |
ClinGen gnomAD |
|
|
RCV000484780 rs1064796790 CA16618929 |
1100 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1450850953 CA378394957 |
1103 | T>I | No |
ClinGen TOPMed |
|
|
rs1416298130 CA378395064 |
1118 | G>E | No |
ClinGen TOPMed |
|
|
rs1397305026 CA378395061 |
1118 | G>R | No |
ClinGen gnomAD |
|
|
rs1047396190 CA213250125 |
1124 | A>T | No |
ClinGen TOPMed |
|
|
rs901512521 CA378395108 |
1125 | L>F | No |
ClinGen gnomAD |
|
|
CA213250138 rs901512521 |
1125 | L>I | No |
ClinGen gnomAD |
|
|
rs1293517519 CA378395140 |
1130 | A>S | No |
ClinGen gnomAD |
|
|
rs1339385453 CA378395170 |
1134 | C>Y | No |
ClinGen gnomAD |
|
|
rs752555183 CA5688412 |
1136 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5688416 rs756740002 |
1150 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780709993 CA5688417 |
1151 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs368832369 CA5688434 |
1162 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745386744 CA5688438 |
1167 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5688437 rs780621961 |
1167 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378395483 rs1314905542 |
1177 | P>R | No |
ClinGen gnomAD |
|
|
CA378395528 rs1350632195 |
1184 | D>G | No |
ClinGen TOPMed |
|
|
CA378395536 rs1425294108 |
1185 | K>R | No |
ClinGen TOPMed |
|
|
CA5688458 rs368353204 |
1203 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779467632 CA5688459 |
1207 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA378395877 rs1590572876 |
1211 | E>* | No |
ClinGen Ensembl |
|
|
CA5688460 rs753487430 |
1211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1227369030 CA378395938 |
1214 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1216 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352295110 CA378395978 |
1217 | G>D | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9UQE7
[MIM: 610759]: Cornelia de Lange syndrome 3 with or without midline brain defects (CDLS3)
A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:18996922, ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:18996922, ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| cohesin complex | A protein complex that is required for sister chromatid cohesion in eukaryotes. The cohesin complex forms a molecular ring complex, and is composed of structural maintenance of chromosomes (SMC) and kleisin proteins. For example, in yeast, the complex is composed of the SMC proteins Smc1p and Smc3p, and the kleisin protein Scc1p. In vertebrates, the complex is composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domains to a kleisin (RAD21, REC8 or RAD21L) which links them, and one STAG protein (STAG1, STAG2 or STAG3). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| lateral element | A proteinaceous core found between sister chromatids during meiotic prophase. |
| meiotic cohesin complex | A cohesin complex that mediates sister chromatid cohesion during meiosis; has a subunit composition distinct from that of the mitotic cohesin complex. |
| mitotic spindle pole | Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| beta-tubulin binding | Binding to the microtubule constituent protein beta-tubulin. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| cohesin loading activity | Facilitating a conformational change to load a cohesin complex around sister chromatids, driven by ATP hydrolysis. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| dynein complex binding | Binding to a dynein complex, a protein complex that contains two or three dynein heavy chains and several light chains, and has microtubule motor activity. |
| mediator complex binding | Binding to a mediator complex. The mediator complex is a protein complex that interacts with the carboxy-terminal domain of the largest subunit of RNA polymerase II and plays an active role in transducing the signal from a transcription factor to the transcriptional machinery. The Saccharomyces complex contains several identifiable subcomplexes: a head domain comprising Srb2, -4, and -5, Med6, -8, and -11, and Rox3 proteins; a middle domain comprising Med1, -4, and -7, Nut1 and -2, Cse2, Rgr1, Soh1, and Srb7 proteins; a tail consisting of Gal11p, Med2p, Pgd1p, and Sin4p; and a regulatory subcomplex comprising Ssn2, -3, and -8, and Srb8 proteins. Metazoan mediator complexes have similar modular structures and include homologs of yeast Srb and Med proteins. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| 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. |
| establishment of meiotic sister chromatid cohesion | The process in which the sister chromatids of a replicated chromosome become joined along the entire length of the chromosome during S phase during a meiotic cell cycle. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| mitotic sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome are joined along the entire length of the chromosome, from their formation in S phase through metaphase during a mitotic cell cycle. This cohesion cycle is critical for high fidelity chromosome transmission. |
| mitotic spindle assembly | Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied. |
| regulation of DNA replication | Any process that modulates the frequency, rate or extent of DNA replication. |
| sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other. |
| stem cell population maintenance | The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q56YN8 | SMC3 | Structural maintenance of chromosomes protein 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYIKQVIIQG | FRSYRDQTIV | DPFSSKHNVI | VGRNGSGKSN | FFYAIQFVLS | DEFSHLRPEQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLALLHEGTG | PRVISAFVEI | IFDNSDNRLP | IDKEEVSLRR | VIGAKKDQYF | LDKKMVTKND |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VMNLLESAGF | SRSNPYYIVK | QGKINQMATA | PDSQRLKLLR | EVAGTRVYDE | RKEESISLMK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETEGKREKIN | ELLKYIEERL | HTLEEEKEEL | AQYQKWDKMR | RALEYTIYNQ | ELNETRAKLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELSAKRETSG | EKSRQLRDAQ | QDARDKMEDI | ERQVRELKTK | ISAMKEEKEQ | LSAERQEQIK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRTKLELKAK | DLQDELAGNS | EQRKRLLKER | QKLLEKIEEK | QKELAETEPK | FNSVKEKEER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GIARLAQATQ | ERTDLYAKQG | RGSQFTSKEE | RDKWIKKELK | SLDQAINDKK | RQIAAIHKDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EDTEANKEKN | LEQYNKLDQD | LNEVKARVEE | LDRKYYEVKN | KKDELQSERN | YLWREENAEQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QALAAKREDL | EKKQQLLRAA | TGKAILNGID | SINKVLDHFR | RKGINQHVQN | GYHGIVMNNF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ECEPAFYTCV | EVTAGNRLFY | HIVDSDEVST | KILMEFNKMN | LPGEVTFLPL | NKLDVRDTAY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PETNDAIPMI | SKLRYNPRFD | KAFKHVFGKT | LICRSMEVST | QLARAFTMDC | ITLEGDQVSH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RGALTGGYYD | TRKSRLELQK | DVRKAEEELG | ELEAKLNENL | RRNIERINNE | IDQLMNQMQQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IETQQRKFKA | SRDSILSEMK | MLKEKRQQSE | KTFMPKQRSL | QSLEASLHAM | ESTRESLKAE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LGTDLLSQLS | LEDQKRVDAL | NDEIRQLQQE | NRQLLNERIK | LEGIITRVET | YLNENLRKRL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DQVEQELNEL | RETEGGTVLT | ATTSELEAIN | KRVKDTMARS | EDLDNSIDKT | EAGIKELQKS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MERWKNMEKE | HMDAINHDTK | ELEKMTNRQG | MLLKKKEECM | KKIRELGSLP | QEAFEKYQTL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SLKQLFRKLE | QCNTELKKYS | HVNKKALDQF | VNFSEQKEKL | IKRQEELDRG | YKSIMELMNV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LELRKYEAIQ | LTFKQVSKNF | SEVFQKLVPG | GKATLVMKKG | DVEGSQSQDE | GEGSGESERG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SGSQSSVPSV | DQFTGVGIRV | SFTGKQGEMR | EMQQLSGGQK | SLVALALIFA | IQKCDPAPFY |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LFDEIDQALD | AQHRKAVSDM | IMELAVHAQF | ITTTFRPELL | ESADKFYGVK | FRNKVSHIDV |
| 1210 | |||||
| ITAEMAKDFV | EDDTTHG |