Q14683
PR
Gene name |
SMC1A (DXS423E, KIAA0178, SB1.8, SMC1, SMC1L1) |
Protein name |
Structural maintenance of chromosomes protein 1A |
Names |
SMC protein 1A, SMC-1-alpha, SMC-1A, Sb1.8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8243 |
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
419 variants for Q14683
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001055709 rs2075764777 |
13 | K>Q | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660365 rs1556892359 CA500024 |
32 | G>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000680258 rs1569359540 CA413133217 |
37 | G>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000415358 rs1057518670 CA16043711 |
39 | S>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA333597 RCV000157052 rs727503776 |
41 | L>F | Wiedemann-Steiner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413133133 RCV000500991 rs1556891104 |
42 | M>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569359535 CA413133099 RCV000680259 |
43 | D>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569359530 CA413133027 RCV000679805 |
47 | F>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001334531 rs2075726992 |
53 | T>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_062785 | 58 | V>del | CDLS2 [UniProt] | Yes | UniProt |
|
rs200243549 RCV000687190 CA10420694 |
76 | N>S | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705752 rs1569359505 |
87 | E>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413132013 rs1569359487 RCV000679806 |
100 | G>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267109 rs2075726145 |
104 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001456061 rs148835205 CA10420678 RCV002503113 RCV000976394 |
124 | L>F | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062141 rs2075725850 |
131 | R>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10420676 RCV001059173 rs781903928 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001048385 VAR_062786 rs2075725792 |
133 | F>V | Congenital muscular hypertrophy-cerebral syndrome CDLS2 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000721092 CA413259596 rs1569359134 |
138 | G>D | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000147569 VAR_062787 CA272583 rs587784420 |
141 | E>K | Congenital muscular hypertrophy-cerebral syndrome CDLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001213339 rs2075720794 |
151 | R>K | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002495143 CA413259409 rs1556890833 RCV000813864 |
165 | A>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001201950 rs2075720519 |
171 | R>Q | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083971 | 171 | R>del | DEE85 [UniProt] | Yes | UniProt |
|
CA272587 RCV000147570 rs587784421 |
183 | Q>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413259192 RCV000990835 rs1602413582 |
195 | E>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA272592 rs587784422 COSM3694639 RCV000147571 |
196 | R>C | large_intestine Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA413259183 VAR_062788 rs1556890815 RCV000639414 |
196 | R>H | Congenital muscular hypertrophy-cerebral syndrome CDLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057520375 RCV001527652 RCV000439297 CA16608889 |
208 | R>G | Cornelia de Lange syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000680260 rs1569359048 |
219 | A>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413258561 rs370671274 RCV001270902 |
252 | D>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10420638 rs782209409 RCV001320460 |
255 | R>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782606119 CA10420637 RCV001034190 |
255 | R>H | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_062789 rs727503773 RCV000626897 RCV000157049 |
268 | K>missing | Global developmental delay CDLS2 Congenital muscular hypertrophy-cerebral syndrome [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_062789 rs727503773 |
268 | K>del | CDLS2 [UniProt] | Yes |
UniProt dbSNP |
|
rs1556890626 RCV000639415 |
287 | K>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_062790 | 306 | S>del | CDLS2 [UniProt] | Yes | UniProt |
|
RCV000556180 CA413257876 rs1556890616 |
307 | H>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000195085 rs797045991 |
381 | E>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195912 rs2075714342 |
384 | K>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527289 CA10420591 rs782697006 RCV000704265 RCV000499405 |
397 | N>S | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
| VAR_078274 | 398 | R>G | CDLS2 [UniProt] | Yes | UniProt |
|
CA272505 rs587784403 RCV000147548 VAR_062791 RCV002281963 |
398 | R>Q | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome CDLS2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001231773 rs2075714119 |
401 | K>N | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001254177 rs781890390 |
412 | R>Q | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587784404 RCV000147550 CA272510 |
423 | Q>K | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799059 rs1602411858 |
433 | K>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2075702300 RCV001250669 |
448 | S>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519398 RCV000417105 |
464 | E>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202476 rs2075701962 |
479 | Q>P | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587784405 RCV000147551 CA272515 |
486 | D>G | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012439 CA255965 rs122454122 VAR_026529 |
493 | E>A | Congenital muscular hypertrophy-cerebral syndrome CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_062792 rs2075701790 RCV001043421 RCV002274122 |
496 | R>C | Congenital muscular hypertrophy-cerebral syndrome CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs122454123 RCV001577833 RCV000012441 VAR_062793 CA255969 |
496 | R>H | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001270901 RCV000578696 rs1556890135 CA413255441 RCV001387822 |
499 | R>* | SMC1A-related cohesinopathy Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083972 | 499 | R>del | DEE85 [UniProt] | Yes | UniProt |
| VAR_083973 | 531 | Q>del | DEE85 [UniProt] | Yes | UniProt |
|
rs1556889640 RCV000624275 |
537 | V>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2075689185 RCV001048196 |
561 | K>Q | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221735 rs2075689167 |
561 | K>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272521 rs587784406 RCV000147554 |
585 | L>P | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995879 rs1602410239 |
595 | I>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822047 CA413252910 TCGA novel rs782196047 |
616 | A>V | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA ExAC dbSNP gnomAD |
|
RCV000999455 CA413252806 rs1369059288 RCV000819704 |
624 | D>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA413252792 rs1556889577 RCV000639412 |
626 | R>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA272526 RCV000147555 COSM76530 rs587784407 |
626 | R>H | ovary large_intestine Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_078275 | 651 | V>M | CDLS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001270900 rs2075687166 |
653 | S>F | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413252447 RCV000990833 rs1602410098 |
655 | G>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556889534 RCV000622892 |
664 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415322 CA16043595 rs1057518859 |
666 | W>R | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413252173 rs1569356968 RCV000757943 |
679 | E>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556889524 RCV000623317 CA413252158 |
680 | R>C | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000930925 CA413252154 rs1556889522 |
680 | R>H | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_062794 | 683 | E>del | CDLS2 [UniProt] | Yes | UniProt |
|
rs797045992 RCV000193116 |
684 | E>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222901 rs2075686262 |
689 | M>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_062795 | 693 | R>G | CDLS2 [UniProt] | Yes | UniProt |
|
VAR_078276 CA272531 RCV000147556 rs587784408 |
693 | R>Q | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome CDLS2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001051163 rs2075686139 |
699 | R>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782176647 VAR_064542 CA10420477 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. CDLS2 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_062796 rs587784409 COSM1123030 CA272536 RCV002498674 RCV000147557 RCV001574986 |
711 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Congenital muscular hypertrophy-cerebral syndrome CDLS2 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs2075685944 RCV001049126 |
721 | Q>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001072127 rs2075681060 |
733 | E>* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083974 | 733 | E>del | DEE85 [UniProt] | Yes | UniProt |
|
RCV000497394 rs1556889269 CA413251259 RCV002527145 |
758 | R>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210741 rs2075680361 |
772 | V>L | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2075680329 RCV001170013 |
774 | D>N | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045982 rs2075680329 |
774 | D>Y | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000147558 CA272540 rs587784410 |
776 | V>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413251102 RCV000624124 rs1556889236 |
777 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_062797 | 781 | C>F | CDLS2 [UniProt] | Yes | UniProt |
|
CA259690 RCV000022820 VAR_064543 RCV000441375 rs387906702 RCV000623393 |
784 | I>T | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases CDLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587784411 RCV000147559 CA272545 |
784 | I>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001072126 rs2075680107 |
788 | N>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277329 COSM216212 rs797045993 RCV000194474 VAR_062798 |
790 | R>Q | Variant assessed as Somatic; impact. central_nervous_system Congenital muscular hypertrophy-cerebral syndrome CDLS2 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001265874 RCV001252688 COSM1123029 rs587784412 RCV000147560 CA272550 |
790 | R>W | Variant assessed as Somatic; impact. endometrium Congenital muscular hypertrophy-cerebral syndrome Microcephaly Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001072131 rs1569356555 |
798 | K>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569356555 RCV000680261 |
799 | R>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001268607 RCV000680262 rs1569356550 CA413250889 |
807 | R>H | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000528271 rs1556888586 CA413250707 |
816 | R>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_062799 | 816 | R>G | CDLS2 [UniProt] | Yes | UniProt |
|
RCV000990832 CA10604669 RCV000400812 rs886044819 COSM1319428 |
816 | R>H | Congenital muscular hypertrophy-cerebral syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000147561 rs587784413 RCV001344914 CA173510 |
819 | I>S | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2075664229 RCV001072128 |
826 | N>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602407457 RCV000012438 |
831 | D>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_026530 | 832 | Q>del | CDLS2 [UniProt] | Yes | UniProt |
|
rs797045069 RCV000191130 |
849 | I>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2075652085 RCV001255325 RCV001252976 |
871 | Q>* | Intellectual disability Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376589639 CA10420409 RCV001227326 |
882 | S>L | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
VAR_083975 rs2075651835 RCV001072130 |
895 | R>G | Developmental and epileptic encephalopathy, 85, with or without midline brain defects DEE85 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA413248450 RCV000685225 rs1569355072 |
903 | K>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2075651266 RCV001219346 |
911 | E>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693326 CA413248281 rs1569355048 |
913 | T>I | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10420403 RCV000707099 rs782728089 RCV002477634 |
931 | Q>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000990831 rs1602405588 |
939 | K>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202429 RCV000394437 rs863225458 RCV001072124 |
951 | S>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812147 rs1602404847 |
958 | Q>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172011 CA413247427 rs1239033094 RCV002557477 |
970 | S>T | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_083976 | 975 | R>del | DEE85 [UniProt] | Yes | UniProt |
|
CA413247283 rs1556887759 RCV001031001 |
983 | Y>C | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002314979 CA10420371 rs782381563 RCV000538565 RCV001788281 |
984 | G>S | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690033 CA10420349 rs782127256 |
993 | A>S | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000415185 RCV002488856 CA10420348 rs781817923 |
994 | Q>R | Pectus excavatum Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA413245771 rs1602398950 RCV000990830 |
1008 | Q>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059977 rs2075591743 |
1018 | Q>R | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639413 rs1556886127 |
1019 | R>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587784415 CA272560 RCV000147563 |
1024 | N>Y | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413245380 rs1556886124 RCV000639410 |
1035 | R>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2075591576 RCV001072129 |
1039 | Q>* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083977 | 1039 | Q>del | DEE85 [UniProt] | Yes | UniProt |
|
RCV001249630 rs2075591559 |
1041 | T>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000147564 rs587784416 CA272565 RCV000255003 VAR_062800 |
1049 | R>Q | Congenital muscular hypertrophy-cerebral syndrome CDLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_083978 | 1049 | R>del | DEE85 [UniProt] | Yes | UniProt |
|
RCV000692280 rs1569351907 CA413244808 |
1051 | R>* | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1468548 rs1057521921 RCV001066009 CA16608532 RCV000427470 |
1060 | E>K | large_intestine Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs372307204 CA10420320 RCV000688735 RCV001816703 |
1062 | I>M | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196790 rs2075588362 |
1064 | K>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190720 COSM3713960 CA204718 rs797044896 |
1066 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; impact. Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000707530 CA413244342 RCV000623215 rs1556886034 |
1066 | R>H | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel rs2075588188 RCV001256205 |
1069 | R>C | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000811425 rs1602398590 CA413244088 |
1079 | T>A | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2075587887 RCV001060696 |
1084 | I>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340060 rs587784417 |
1084 | I>M | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272574 VAR_062801 rs587784418 RCV000147566 |
1085 | Y>C | Congenital muscular hypertrophy-cerebral syndrome CDLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA413243671 rs1131692271 RCV000496004 |
1097 | F>Y | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2075586377 RCV001270858 RCV001565382 |
1121 | R>H | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_062802 | 1122 | F>L | CDLS2 [UniProt] | Yes | UniProt |
| VAR_062803 | 1123 | R>W | CDLS2 [UniProt] | Yes | UniProt |
|
CA16044282 rs1057519499 RCV000416533 |
1125 | M>V | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413242699 RCV000703292 rs1569351534 |
1154 | V>D | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10420277 rs782084021 RCV001059994 |
1154 | V>I | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA413242687 rs1556885815 RCV002477367 RCV000626093 |
1156 | D>E | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413242634 RCV001265654 rs868961188 |
1164 | N>D | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413242604 RCV000624551 RCV002531886 rs1556885810 |
1166 | N>S | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413242605 RCV000995878 VAR_078277 rs1556885810 |
1166 | N>T | Congenital muscular hypertrophy-cerebral syndrome CDLS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001072125 rs863225459 RCV000202430 |
1185 | I>missing | Developmental and epileptic encephalopathy, 85, with or without midline brain defects Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272578 rs587784419 RCV000147568 |
1186 | V>A | Variant assessed as Somatic; impact. Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_078278 | 1189 | L>F | CDLS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA358103 rs869312954 RCV000210626 |
1193 | F>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1123023 rs782175064 RCV001194642 CA10420258 |
1198 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium Congenital muscular hypertrophy-cerebral syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP |
|
RCV000541696 rs782175064 CA413241898 |
1198 | E>Q | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000823634 rs781998306 CA10420257 |
1204 | Y>F | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569351352 RCV002314374 CA413241605 |
1213 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569351341 RCV000698600 |
1218 | F>missing | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342020 rs2075576498 |
1218 | F>A | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001520176 rs782063495 CA10420235 |
1228 | P>L | Congenital muscular hypertrophy-cerebral syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002312396 rs782012594 RCV002532991 CA10420234 |
1231 | N>S | Congenital muscular hypertrophy-cerebral syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| TCGA novel | 10 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 15 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602418853 RCV000999457 |
18 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 26 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413134868 rs34530151 VAR_052438 |
28 | T>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1330260800 CA413134840 |
30 | I>V | No |
ClinGen TOPMed |
|
|
rs200998508 CA10420753 |
35 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 46 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253441028 CA413132655 |
65 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 65 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 67 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329171611 rs918387605 |
85 | S>C | No |
ClinGen TOPMed |
|
|
CA10420693 rs781811085 |
90 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA413132140 rs1444762600 |
92 | R>C | No |
ClinGen TOPMed |
|
|
rs782788649 CA10420692 |
92 | R>H | No |
ClinGen ExAC |
|
|
rs781817340 CA10420690 COSM1319426 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
RCV000731943 CA413132052 rs781817340 |
96 | R>P | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| TCGA novel | 101 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413131865 rs1215384023 |
103 | S>C | No |
ClinGen TOPMed |
|
|
rs1556891059 RCV000498677 CA413131844 |
104 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10420681 rs782607829 |
106 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA329171499 rs113068546 |
108 | N>S | No |
ClinGen Ensembl |
|
|
rs1556891055 CA413131710 |
111 | V>A | No |
ClinGen gnomAD |
|
|
rs782554846 CA329171480 |
115 | H>P | No |
ClinGen Ensembl |
|
|
CA413131521 rs1556891045 |
124 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329171458 rs781895092 |
128 | I>T | No |
ClinGen Ensembl |
|
|
rs1223252947 CA413131457 |
129 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1259197736 CA413259568 |
143 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171109209 CA413259490 |
153 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1468174097 CA413259372 |
170 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413259359 rs1556890827 |
172 | K>R | No |
ClinGen gnomAD |
|
|
CA413259295 rs1450248187 |
180 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 181 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329907613 COSM1123040 rs782669802 |
184 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413259086 rs1287375497 |
204 | E>V | No |
ClinGen TOPMed |
|
|
rs1057520375 CA413259017 |
208 | R>W | No |
ClinGen gnomAD |
|
|
CA10420648 rs782027066 |
210 | Q>H | No |
ClinGen ExAC |
|
|
rs1001684337 CA329907612 |
214 | D>G | No |
ClinGen Ensembl |
|
|
CA10420647 rs782811561 |
218 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA329907611 rs972084651 |
230 | H>Q | No |
ClinGen Ensembl |
|
|
rs782002189 CA10420645 |
230 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413258673 rs868916184 |
238 | L>R | No |
ClinGen Ensembl |
|
|
CA10420644 rs782172948 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10420643 rs781938358 |
240 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413258598 rs1556890765 |
248 | E>Q | No |
ClinGen gnomAD |
|
|
CA413258563 rs1556890763 |
252 | D>V | No |
ClinGen gnomAD |
|
|
rs782606119 CA413258537 |
255 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329907610 rs897112776 |
258 | K>R | No |
ClinGen TOPMed |
|
|
rs1602413408 RCV000999456 |
265 | E>missing | No |
ClinVar dbSNP |
|
|
rs1569359008 CA413258385 |
268 | K>E | No |
ClinGen Ensembl |
|
|
CA10420635 rs781812690 |
275 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs1556890626 | 287 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413258023 rs1197410298 |
294 | K>N | No |
ClinGen TOPMed |
|
|
CA413257768 rs1556890615 |
315 | A>V | No |
ClinGen gnomAD |
|
|
rs1377540307 CA413257755 |
316 | K>R | No |
ClinGen TOPMed |
|
|
CA413257666 rs1602413015 |
323 | Q>R | No |
ClinGen Ensembl |
|
|
rs782449052 CA10420614 |
329 | R>H | No |
ClinGen ExAC |
|
|
rs1172651579 CA413257556 |
330 | K>N | No |
ClinGen TOPMed |
|
|
CA329907584 rs893697991 |
338 | K>N | No |
ClinGen TOPMed |
|
|
CA413257439 rs1556890600 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs375853850 CA10420612 |
344 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782111343 CA10420611 |
346 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413257320 rs1556890595 |
348 | Q>R | No |
ClinGen gnomAD |
|
|
rs1556890594 CA413257306 |
349 | E>G | No |
ClinGen gnomAD |
|
|
rs1556890589 CA413257296 |
350 | F>V | No |
ClinGen gnomAD |
|
|
rs781862992 COSM191481 CA10420610 |
353 | R>W | Variant assessed as Somatic; 6.339e-05 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA329907581 rs937651485 |
366 | T>M | No |
ClinGen Ensembl |
|
|
rs1556890585 CA413257000 |
370 | N>S | No |
ClinGen gnomAD |
|
|
CA10420596 rs782541938 |
377 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs797045991 | 381 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782473597 CA10420593 |
386 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10603610 rs886041902 RCV000342065 |
398 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10420589 rs781890390 |
412 | R>L | No |
ClinGen ExAC |
|
|
CA413256435 rs868971359 |
414 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 414 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000309174 CA10605821 rs886044873 |
416 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556890217 CA413255992 |
424 | K>* | No |
ClinGen Ensembl |
|
|
CA413255969 rs1556890216 |
426 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10605460 rs886044851 RCV000338593 |
427 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001288776 rs2075703102 |
430 | E>V | No |
ClinVar dbSNP |
|
|
rs782669991 CA10420574 |
435 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1420631143 COSM1468557 CA413255849 |
443 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA413255842 rs1556890207 |
444 | T>A | No |
ClinGen gnomAD |
|
|
CA329907446 rs781806955 |
450 | E>A | No |
ClinGen Ensembl |
|
|
CA10605564 rs886044858 RCV000376748 |
455 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 456 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10420558 rs782299864 |
465 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1556890153 CA413255660 |
468 | R>Q | No |
ClinGen gnomAD |
|
|
rs1556890154 CA413255661 |
468 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782636271 CA10420557 |
469 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10420556 rs782521146 |
470 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413255620 rs1556890145 |
474 | N>S | No |
ClinGen gnomAD |
|
|
COSM1468553 CA413255499 rs1556890141 |
491 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV000659162 CA413255493 rs1556890139 |
492 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 499 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556890131 CA413255439 |
499 | R>Q | No |
ClinGen gnomAD |
|
|
CA16608533 rs1057522040 RCV000429287 |
502 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1602411663 CA413255316 |
508 | K>R | No |
ClinGen Ensembl |
|
| rs782547781 | 516 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782267003 CA10420542 |
518 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA413253913 rs1569357187 |
529 | K>R | No |
ClinGen Ensembl |
|
|
CA413253760 rs868911204 |
542 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 561 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413253520 rs7052858 |
566 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413253435 rs1252688371 |
574 | D>G | No |
ClinGen TOPMed |
|
|
CA10420521 rs781980951 |
578 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782204428 CA10420519 |
591 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1368119738 CA413253056 |
603 | P>L | No |
ClinGen TOPMed |
|
|
CA234957 rs727504164 RCV000153975 |
612 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10420516 rs782196047 |
616 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 623 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10420514 rs782549068 |
625 | A>V | No |
ClinGen ExAC |
|
|
CA413252783 rs1429718803 |
627 | R>C | No |
ClinGen TOPMed |
|
|
CA10420513 rs781857094 |
627 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413252720 rs1556889570 |
633 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 642 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 646 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329907258 rs12852163 |
662 | K>N | No |
ClinGen Ensembl |
|
|
rs12860599 CA329907257 |
665 | R>G | No |
ClinGen Ensembl |
|
|
CA10420492 rs782671917 |
672 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12851929 CA10420488 |
684 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs12860296 CA329907254 |
685 | L>V | No |
ClinGen Ensembl |
|
|
rs1556889485 CA413252022 |
689 | M>I | No |
ClinGen gnomAD |
|
|
rs1295956137 CA413251987 |
692 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 704 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329907248 rs977290148 |
708 | L>P | No |
ClinGen Ensembl |
|
|
CA10420478 rs782176647 COSM292890 |
711 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782408107 CA10420475 |
723 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA413251628 rs868990796 |
724 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 734 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782713447 CA10420462 |
736 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10420461 rs782153275 |
748 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461880349 CA413251328 |
749 | N>D | No |
ClinGen TOPMed |
|
|
rs1556889271 CA413251307 |
751 | I>M | No |
ClinGen gnomAD |
|
|
rs1056073528 CA329907191 |
758 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 765 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 766 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM488471 rs1602409326 CA413251152 |
771 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs782733394 CA10420442 |
782 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1556889234 CA413251062 |
782 | R>W | No |
ClinGen gnomAD |
|
|
rs1226562040 CA413251044 |
785 | G>C | No |
ClinGen TOPMed |
|
|
CA10420440 rs781929686 |
785 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10420439 rs782402477 |
787 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413251026 rs1556889225 |
788 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 793 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413250969 rs868911010 |
796 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 797 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556889218 CA413250890 |
807 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413250575 rs1239141587 |
825 | K>R | No |
ClinGen TOPMed |
|
|
CA413250461 rs1439955686 |
831 | D>N | No |
ClinGen TOPMed |
|
|
rs782645736 CA10420426 |
835 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs904926146 CA329907017 |
836 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1556888569 CA413250367 |
837 | M>L | No |
ClinGen gnomAD |
|
|
rs1556888566 CA413250361 |
837 | M>T | No |
ClinGen gnomAD |
|
|
CA10420424 rs781785077 |
841 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1556888559 CA413250256 |
843 | K>Q | No |
ClinGen gnomAD |
|
|
rs1556888557 CA413250251 |
843 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 851 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413250049 rs1472137678 |
852 | L>V | No |
ClinGen TOPMed |
|
|
CA10420415 COSM1319429 rs781935129 |
855 | E>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA10420414 rs782407001 |
860 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10420413 rs782302182 |
862 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA329906852 rs1034852654 |
867 | M>T | No |
ClinGen TOPMed |
|
|
rs1556888070 CA413248829 |
875 | N>S | No |
ClinGen gnomAD |
|
|
rs782719220 CA329906850 |
877 | H>Y | No |
ClinGen Ensembl |
|
|
rs369412105 CA10420410 |
879 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413248765 rs1556888060 |
880 | K>R | No |
ClinGen gnomAD |
|
|
RCV001311389 rs2075651886 |
883 | E>K | No |
ClinVar dbSNP |
|
|
CA413248707 rs1602405752 |
885 | N>S | No |
ClinGen Ensembl |
|
|
rs1254835093 CA413248507 |
899 | G>R | No |
ClinGen TOPMed |
|
|
CA329906847 rs144664375 COSM3780514 |
902 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
TCGA novel CA413248400 rs1271194902 |
904 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1342401466 CA413248303 |
911 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 917 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 920 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000520361 rs1556888010 |
924 | S>missing | No |
ClinVar dbSNP |
|
|
rs1230216654 CA413248121 |
925 | D>A | No |
ClinGen TOPMed |
|
|
CA413248039 rs1485073307 |
931 | Q>H | No |
ClinGen TOPMed |
|
|
rs369625058 CA10420402 |
932 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413247886 rs1602405567 |
943 | S>L | No |
ClinGen Ensembl |
|
|
CA413247767 rs1556887983 |
950 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 953 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556887779 CA413247598 |
956 | S>I | No |
ClinGen gnomAD |
|
|
CA413247601 rs1556887779 |
956 | S>N | No |
ClinGen gnomAD |
|
|
RCV000522038 rs1556887777 |
958 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1253991330 CA413247572 |
958 | Q>P | No |
ClinGen TOPMed |
|
|
CA413247563 rs1556887771 |
959 | G>R | No |
ClinGen gnomAD |
|
|
CA413247505 rs1556887767 |
962 | S>L | No |
ClinGen gnomAD |
|
|
rs1569354738 CA413247483 |
964 | S>T | No |
ClinGen Ensembl |
|
|
CA10420372 rs781980688 |
973 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168222212 CA413247357 |
977 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1166149209 CA413247321 |
980 | E>A | No |
ClinGen Ensembl |
|
|
CA413245951 rs1263712489 |
993 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 998 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10420345 rs781938970 |
1002 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1011 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868962395 CA413245658 |
1015 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA413245621 rs1556886130 |
1018 | Q>* | No |
ClinGen gnomAD |
|
|
CA413245602 rs1475862879 |
1019 | R>H | No |
ClinGen TOPMed |
|
|
CA413245576 rs868950554 |
1021 | A>V | No |
ClinGen Ensembl |
|
|
CA413245526 rs1602398913 |
1025 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1028 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782334343 CA329906145 |
1028 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1556886043 CA413244566 |
1058 | A>T | No |
ClinGen gnomAD |
|
|
rs782052488 CA10420319 |
1067 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA413244322 rs1556886033 |
1067 | F>V | No |
ClinGen gnomAD |
|
|
CA413244275 rs1569351887 |
1069 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1070 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10420318 rs782010974 |
1071 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10420317 rs782241632 |
1072 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10420316 rs782241632 |
1072 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000523612 rs1556886027 CA413244153 |
1075 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1569351858 CA413244008 |
1083 | E>K | No |
ClinGen Ensembl |
|
|
CA413243963 rs1556886022 |
1084 | I>T | No |
ClinGen gnomAD |
|
|
rs1036540749 CA329906129 |
1087 | A>S | No |
ClinGen Ensembl |
|
|
rs1006362029 CA329906128 COSM191472 |
1090 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1602398561 CA413243811 |
1091 | N>K | No |
ClinGen Ensembl |
|
|
rs782713427 CA10420303 |
1102 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA208176 RCV000194177 rs797045994 |
1102 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1109 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329906122 rs923309929 |
1112 | N>S | No |
ClinGen Ensembl |
|
|
rs1057518054 RCV000414541 CA16043327 |
1114 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1115 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000999451 rs1602398439 CA413243370 |
1124 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781976989 CA10420301 |
1137 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1174 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556885770 CA413242366 COSM1468547 |
1177 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1312716558 CA413242300 |
1180 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1312716558 CA413242302 |
1180 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA329906061 rs1033021951 |
1185 | I>V | No |
ClinGen Ensembl |
|
|
RCV000441064 rs1057524798 CA16608948 |
1190 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10420260 rs782055278 |
1195 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs375936166 CA10420239 |
1214 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM191469 CA413241569 rs1259383708 |
1219 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1556885701 CA413241482 |
1226 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1232 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q14683
[MIM: 300590]: Cornelia de Lange syndrome 2 (CDLS2)
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. {ECO:0000269|PubMed:16604071, ECO:0000269|PubMed:17221863, ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:18996922, ECO:0000269|PubMed:19701948, ECO:0000269|PubMed:20358602, ECO:0000269|PubMed:20635401, ECO:0000269|PubMed:24124034}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 301044]: Developmental and epileptic encephalopathy 85 with or without midline brain defects (DEE85)
An X-linked form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging. {ECO:0000269|PubMed:28166369, 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. {ECO:0000269|PubMed:16604071, ECO:0000269|PubMed:17221863, ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:18996922, ECO:0000269|PubMed:19701948, ECO:0000269|PubMed:20358602, ECO:0000269|PubMed:20635401, ECO:0000269|PubMed:24124034}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging. {ECO:0000269|PubMed:28166369, ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q14683
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RecF/RecN/SMC, N-terminal | 3 - 1208 | IPR003395 |
| domain | SMCs flexible hinge | 513 - 629 | IPR010935 |
| domain | Smc1, ATP-binding cassette domain | 4 - 148 | IPR028468-1 |
| domain | Smc1, ATP-binding cassette domain | 1117 - 1220 | IPR028468-2 |
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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). |
| condensed nuclear chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| 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. |
7 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. |
| 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. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| 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. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
11 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 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 sister chromatid segregation | The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. |
| 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. |
| response to DNA damage checkpoint signaling | A process that occurs in response to signals generated as a result of DNA damage checkpoint signaling. |
| response to radiation | Any process that results in a change in state or activity of a cell or an organism (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. |
| sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other. |
| somatic stem cell population maintenance | Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32908 | SMC1 | Structural maintenance of chromosomes protein 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8NDV3 | SMC1B | Structural maintenance of chromosomes protein 1B | Homo sapiens (Human) | PR |
| Q9CU62 | Smc1a | Structural maintenance of chromosomes protein 1A | Mus musculus (Mouse) | PR |
| Q9Z1M9 | Smc1a | Structural maintenance of chromosomes protein 1A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGFLKLIEIE | NFKSYKGRQI | IGPFQRFTAI | IGPNGSGKSN | LMDAISFVLG | EKTSNLRVKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRDLIHGAPV | GKPAANRAFV | SMVYSEEGAE | DRTFARVIVG | GSSEYKINNK | VVQLHEYSEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LEKLGILIKA | RNFLVFQGAV | ESIAMKNPKE | RTALFEEISR | SGELAQEYDK | RKKEMVKAEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DTQFNYHRKK | NIAAERKEAK | QEKEEADRYQ | RLKDEVVRAQ | VQLQLFKLYH | NEVEIEKLNK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELASKNKEIE | KDKKRMDKVE | DELKEKKKEL | GKMMREQQQI | EKEIKEKDSE | LNQKRPQYIK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AKENTSHKIK | KLEAAKKSLQ | NAQKHYKKRK | GDMDELEKEM | LSVEKARQEF | EERMEEESQS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QGRDLTLEEN | QVKKYHRLKE | EASKRAATLA | QELEKFNRDQ | KADQDRLDLE | ERKKVETEAK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IKQKLREIEE | NQKRIEKLEE | YITTSKQSLE | EQKKLEGELT | EEVEMAKRRI | DEINKELNQV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MEQLGDARID | RQESSRQQRK | AEIMESIKRL | YPGSVYGRLI | DLCQPTQKKY | QIAVTKVLGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NMDAIIVDSE | KTGRDCIQYI | KEQRGEPETF | LPLDYLEVKP | TDEKLRELKG | AKLVIDVIRY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EPPHIKKALQ | YACGNALVCD | NVEDARRIAF | GGHQRHKTVA | LDGTLFQKSG | VISGGASDLK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AKARRWDEKA | VDKLKEKKER | LTEELKEQMK | AKRKEAELRQ | VQSQAHGLQM | RLKYSQSDLE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QTKTRHLALN | LQEKSKLESE | LANFGPRIND | IKRIIQSRER | EMKDLKEKMN | QVEDEVFEEF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CREIGVRNIR | EFEEEKVKRQ | NEIAKKRLEF | ENQKTRLGIQ | LDFEKNQLKE | DQDKVHMWEQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVKKDENEIE | KLKKEEQRHM | KIIDETMAQL | QDLKNQHLAK | KSEVNDKNHE | MEEIRKKLGG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ANKEMTHLQK | EVTAIETKLE | QKRSDRHNLL | QACKMQDIKL | PLSKGTMDDI | SQEEGSSQGE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DSVSGSQRIS | SIYAREALIE | IDYGDLCEDL | KDAQAEEEIK | QEMNTLQQKL | NEQQSVLQRI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AAPNMKAMEK | LESVRDKFQE | TSDEFEAARK | RAKKAKQAFE | QIKKERFDRF | NACFESVATN |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| IDEIYKALSR | NSSAQAFLGP | ENPEEPYLDG | INYNCVAPGK | RFRPMDNLSG | GEKTVAALAL |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LFAIHSYKPA | PFFVLDEIDA | ALDNTNIGKV | ANYIKEQSTC | NFQAIVISLK | EEFYTKAESL |
| 1210 | 1220 | 1230 | |||
| IGVYPEQGDC | VISKVLTFDL | TKYPDANPNP | NEQ |