Q9NVC6
PR
Gene name |
MED17 (ARC77, CRSP6, DRIP77, DRIP80, TRAP80) |
Protein name |
Mediator of RNA polymerase II transcription subunit 17 |
Names |
Activator-recruited cofactor 77 kDa component, ARC77, Cofactor required for Sp1 transcriptional activation subunit 6, CRSP complex subunit 6, Mediator complex subunit 17, Thyroid hormone receptor-associated protein complex 80 kDa component, Trap80, Transcriptional coactivator CRSP77, Vitamin D3 receptor-interacting protein complex 80 kDa component, DRIP80 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9440 |
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
9 structures for Q9NVC6
529 variants for Q9NVC6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001277346 CA382386815 RCV002542866 rs1320244785 |
3 | G>V | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs745733410 RCV002526642 RCV000479227 |
34 | L>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001274816 RCV002540753 CA6232263 rs200317687 RCV000906859 |
68 | Q>P | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000607022 rs2848477 CA6232264 RCV001510013 VAR_063126 CA153680 RCV000117609 |
69 | E>D | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV001278665 CA6232266 rs758004396 |
71 | P>L | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs184914659 RCV002540164 CA6232270 RCV001274818 RCV000898028 |
75 | S>C | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002274177 rs1304067406 CA382388211 RCV002542903 RCV001278666 |
78 | D>G | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA226522569 RCV002546451 RCV001331186 rs775443807 |
101 | N>S | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252068 rs756882876 RCV002570488 CA6232303 |
109 | M>I | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144529403 RCV001278667 RCV002537805 CA6232302 CA6232301 |
109 | M>L | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1293450 rs150314692 CA6232353 RCV001278669 |
189 | R>Q | cervix Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000117613 rs587780394 CA153687 |
191 | R>W | Variant assessed as Somatic; 0.0 impact. Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002542904 rs369349413 CA6232401 RCV001278670 |
254 | S>C | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143018025 CA6232462 RCV002293399 |
297 | A>G | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA231292 VAR_057781 rs35313315 RCV001274824 RCV000117604 |
357 | F>L | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1020694159 RCV001278673 CA226482113 |
367 | H>D | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000006410 RCV002513134 rs267607232 VAR_065066 CA117920 |
371 | L>P | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MCPHSBA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001278674 CA226482966 rs140719424 |
408 | S>W | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331184 CA6232569 rs760909439 |
433 | K>I | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763249105 RCV002291292 RCV001068899 |
435 | A>missing | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278676 rs1943966519 |
460 | I>M | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201376861 RCV001395438 CA6232614 RCV001278677 |
469 | D>Y | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1943967240 RCV001199278 |
478 | L>* | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201509809 CA6232619 RCV001278678 |
483 | G>S | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000821651 CA6232672 rs752341132 RCV001809841 |
533 | Q>* | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001818921 RCV001252810 rs548231700 RCV000944493 CA6232708 |
583 | R>H | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001278681 CA382362468 rs1204803650 |
586 | P>S | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001278682 CA382362834 rs1179465690 |
617 | H>R | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6232725 RCV000978761 RCV001274827 rs570654786 |
623 | K>R | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA382363011 RCV000625859 rs1356392449 |
633 | R>Q | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001257653 rs761959231 CA6232734 RCV001278683 RCV001303451 |
643 | M>V | Intellectual disability Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6232225 rs201799308 |
2 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382386805 rs1221522978 |
3 | G>R | No |
ClinGen TOPMed |
|
|
CA382386864 rs1377778619 |
5 | R>H | No |
ClinGen gnomAD |
|
|
CA6232226 rs748997529 |
6 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1225048766 CA382386898 |
7 | V>A | No |
ClinGen TOPMed |
|
|
rs1225048766 CA382386897 |
7 | V>G | No |
ClinGen TOPMed |
|
|
CA226520580 rs963045028 |
7 | V>M | No |
ClinGen Ensembl |
|
|
CA6232230 rs544148290 |
12 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA226520615 rs550607652 |
13 | S>P | No |
ClinGen Ensembl |
|
|
rs1026270382 CA226520616 |
14 | A>P | No |
ClinGen Ensembl |
|
|
rs1237162643 CA382386970 |
14 | A>V | No |
ClinGen gnomAD |
|
|
rs777259634 CA6232233 |
15 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA382386985 rs777259634 |
15 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs954515859 CA226520620 |
16 | E>* | No |
ClinGen Ensembl |
|
|
CA6232234 rs770189924 |
16 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320047535 CA382387030 |
18 | Q>H | No |
ClinGen TOPMed |
|
|
CA226520636 rs866774852 |
18 | Q>K | No |
ClinGen Ensembl |
|
|
rs1565286747 CA382387028 |
18 | Q>L | No |
ClinGen Ensembl |
|
|
CA382387041 rs1591380504 |
19 | V>G | No |
ClinGen Ensembl |
|
|
rs1445096034 CA382387033 |
19 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382387053 rs1157960077 |
20 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382387060 rs1301985206 |
21 | E>Q | No |
ClinGen gnomAD |
|
|
rs1591380511 CA382387096 |
22 | V>G | No |
ClinGen Ensembl |
|
|
CA382387099 rs1565286762 |
23 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 25 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591380518 CA382387167 |
27 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382387216 rs1156998338 |
29 | T>M | No |
ClinGen TOPMed |
|
|
rs1402279993 CA382387211 |
29 | T>S | No |
ClinGen gnomAD |
|
|
rs1591380525 CA382387234 |
30 | Y>S | No |
ClinGen Ensembl |
|
|
rs371828186 CA6232237 |
31 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA226520659 rs926146633 |
32 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6232240 rs11539353 |
33 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11539353 CA6232241 |
33 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224754604 CA382387349 |
35 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382387372 rs1460104408 |
36 | M>I | No |
ClinGen gnomAD |
|
|
rs562459610 CA6232245 CA6232246 |
36 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1325005060 CA382387399 |
38 | Q>* | No |
ClinGen TOPMed |
|
|
rs1457386944 CA382387466 |
41 | A>T | No |
ClinGen gnomAD |
|
|
CA6232248 rs147674214 |
42 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771650361 CA6232249 |
44 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232250 rs777239696 |
45 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6232251 rs746469822 |
47 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA226520693 rs925272656 |
48 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406149710 CA382387645 |
49 | F>L | No |
ClinGen gnomAD |
|
|
CA6232252 rs770312610 |
52 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1290391031 CA382387724 |
53 | S>P | No |
ClinGen TOPMed |
|
|
rs1443582927 CA382387746 |
54 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321894095 CA382387859 |
59 | E>A | No |
ClinGen gnomAD |
|
|
rs1225529445 CA382387881 |
60 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA382387898 rs1317339489 |
61 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382387902 rs1317339489 |
61 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1264041443 CA382387890 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA382387906 rs1194218957 |
62 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382387912 rs1194218957 |
62 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6232255 rs763324375 |
63 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 64 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6232257 rs774703221 |
64 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs768892538 CA6232256 |
64 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768892538 CA382387935 |
64 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1182439882 CA382387949 |
65 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1565286852 CA382387953 |
65 | G>D | No |
ClinGen Ensembl |
|
|
rs1182439882 CA382387947 |
65 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1182439882 CA382387946 |
65 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6232259 rs767685559 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs760769376 CA6232261 |
67 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs750552959 CA6232260 |
67 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750552959 CA382387992 |
67 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165596602 CA382388001 |
68 | Q>* | No |
ClinGen gnomAD |
|
|
rs1410978759 CA382388006 |
68 | Q>H | No |
ClinGen gnomAD |
|
|
rs1284156726 CA382388039 |
70 | W>* | No |
ClinGen gnomAD |
|
|
CA382388036 rs1407186932 |
70 | W>L | No |
ClinGen gnomAD |
|
|
CA382388024 rs1344002089 |
70 | W>R | No |
ClinGen gnomAD |
|
|
CA382388065 rs758004396 |
71 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232265 rs752440667 |
71 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340184888 CA382388072 |
72 | G>C | No |
ClinGen gnomAD |
|
|
CA382388076 rs1196287104 |
72 | G>D | No |
ClinGen gnomAD |
|
|
rs552402057 CA226520747 |
73 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1269352951 CA382388118 |
74 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6232269 rs531711697 |
74 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382388125 rs1269352951 |
74 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1591380635 CA382388131 |
75 | S>A | No |
ClinGen Ensembl |
|
|
rs184914659 CA6232271 |
75 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382388158 rs1374245668 |
76 | S>N | No |
ClinGen gnomAD |
|
|
CA382388160 rs1374245668 |
76 | S>T | No |
ClinGen gnomAD |
|
|
rs1163470415 CA382388166 |
77 | A>T | No |
ClinGen gnomAD |
|
|
CA382388185 rs1229082201 |
77 | A>V | No |
ClinGen TOPMed |
|
|
rs769106735 CA6232272 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1384704006 CA382388231 |
79 | Q>R | No |
ClinGen gnomAD |
|
|
rs546515094 CA226520766 |
80 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200031503 CA6232273 |
81 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6232296 rs776593698 |
85 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1308789006 CA382390001 |
86 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999999570 CA226522564 |
89 | Q>* | No |
ClinGen TOPMed |
|
|
CA382390049 rs1295092722 |
90 | P>A | No |
ClinGen TOPMed |
|
|
CA382390054 rs1448423831 |
90 | P>L | No |
ClinGen TOPMed |
|
|
rs1350914266 CA382390099 |
94 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1056585441 CA226522566 |
96 | D>E | No |
ClinGen TOPMed |
|
|
rs765086907 CA6232298 |
99 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6232299 rs775443807 |
101 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382390210 rs1210285788 |
103 | R>S | No |
ClinGen gnomAD |
|
|
rs1591382143 CA382390219 |
104 | S>T | No |
ClinGen Ensembl |
|
|
rs904587230 CA226522570 |
107 | T>I | No |
ClinGen Ensembl |
|
|
CA6232304 rs767110099 |
112 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3359448 CA6232307 rs540904807 |
113 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
RCV000499479 rs1555031931 CA382390368 |
113 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6232308 rs758871944 |
117 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184943980 CA382390493 |
119 | V>I | No |
ClinGen TOPMed |
|
|
CA382390517 rs1439244884 |
121 | D>N | No |
ClinGen TOPMed |
|
|
rs1352841895 CA382390523 |
121 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6232310 rs747325343 |
124 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA226522596 rs895845028 |
124 | F>L | No |
ClinGen Ensembl |
|
|
CA6232311 rs771307434 |
125 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350855771 CA382390588 |
126 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1350855771 CA382390589 |
126 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781403978 CA6232312 |
127 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382390631 rs1346945031 |
129 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1014500973 CA226522621 |
135 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1274410771 CA382390701 |
135 | L>P | No |
ClinGen gnomAD |
|
|
RCV001047778 rs1943789061 |
136 | P>missing | No |
ClinVar dbSNP |
|
|
rs1276024887 CA382390710 |
136 | P>S | No |
ClinGen gnomAD |
|
|
CA382390726 rs1270626927 |
137 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6232314 rs775360415 |
139 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA382353427 rs1309052340 |
140 | N>T | No |
ClinGen TOPMed |
|
|
rs772779316 CA6232339 |
142 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
COSM933424 CA6232341 rs765897907 |
143 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760351508 CA6232340 |
143 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1449227820 CA382353480 |
147 | I>V | No |
ClinGen gnomAD |
|
|
CA382353487 rs764707812 |
148 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6232345 rs752096341 |
148 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764707812 CA6232344 |
148 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA382353489 rs752096341 |
148 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410899220 CA382353517 |
150 | K>R | No |
ClinGen gnomAD |
|
|
CA382353544 rs1282869887 |
152 | S>T | No |
ClinGen gnomAD |
|
|
CA382353579 rs1225585352 |
154 | A>D | No |
ClinGen gnomAD |
|
|
rs1225585352 CA382353582 |
154 | A>G | No |
ClinGen gnomAD |
|
|
CA382353572 rs1343811053 |
154 | A>T | No |
ClinGen gnomAD |
|
|
rs1275468717 CA382353600 |
156 | A>P | No |
ClinGen gnomAD |
|
|
CA382353628 rs1302840036 |
158 | Q>* | No |
ClinGen TOPMed |
|
|
CA382353630 rs1422821262 |
158 | Q>P | No |
ClinGen TOPMed |
|
|
rs369606983 CA6232347 |
164 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM690936 rs1270839943 CA382353731 |
165 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs777604457 CA6232348 |
166 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA382353760 rs1418955185 |
166 | R>S | No |
ClinGen TOPMed |
|
|
rs1026579819 CA226477510 |
168 | T>S | No |
ClinGen Ensembl |
|
|
rs1205676283 CA382353792 |
169 | K>T | No |
ClinGen gnomAD |
|
|
rs1201961023 CA382353820 |
171 | V>F | No |
ClinGen TOPMed |
|
|
CA382353842 rs1377680627 |
173 | E>K | No |
ClinGen gnomAD |
|
|
CA382353884 rs1166659865 |
175 | Q>R | No |
ClinGen gnomAD |
|
|
CA226477516 rs971039556 |
178 | K>N | No |
ClinGen TOPMed |
|
|
rs1392631759 CA382353952 |
180 | Q>* | No |
ClinGen gnomAD |
|
|
rs1008270632 CA226477522 |
181 | R>K | No |
ClinGen Ensembl |
|
|
CA6232349 rs780100770 |
183 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770829465 CA226477531 |
184 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6232352 rs372097081 |
189 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279839551 CA382354662 |
191 | R>Q | No |
ClinGen gnomAD |
|
|
rs771809447 CA382354684 |
194 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771809447 CA6232354 |
194 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746738191 COSM1676372 CA6232356 RCV001213087 |
197 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs951862430 CA226477555 |
199 | V>A | No |
ClinGen TOPMed |
|
|
rs770618400 CA6232357 |
201 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6232358 rs776361616 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1591383313 CA382354747 |
202 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 203 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382354764 rs1565288854 |
203 | I>S | No |
ClinGen Ensembl |
|
|
rs764838810 CA6232360 |
205 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6232362 rs762362286 |
206 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1289482703 CA382354789 |
206 | D>H | No |
ClinGen TOPMed |
|
|
CA6232364 rs750831896 |
209 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232365 rs756368191 |
210 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6232366 rs766601315 |
211 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382354876 rs1179282082 |
212 | A>V | No |
ClinGen TOPMed |
|
|
CA226479804 rs758135725 |
215 | L>F | No |
ClinGen Ensembl |
|
|
rs773537286 CA6232386 |
216 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226479816 rs868539652 |
217 | P>L | No |
ClinGen Ensembl |
|
|
rs1397720183 CA382355707 |
218 | H>R | No |
ClinGen gnomAD |
|
|
CA226479818 rs373141278 |
219 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA382355733 rs1313114390 |
220 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6232387 rs761159316 |
221 | T>K | No |
ClinGen ExAC |
|
|
rs754108222 CA6232389 |
222 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs766697380 CA6232388 |
222 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6232390 rs567425904 |
225 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6232392 rs534823110 |
227 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534823110 CA382355822 |
227 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382355839 rs1417480212 |
228 | T>A | No |
ClinGen TOPMed |
|
|
rs187483056 CA226479831 |
229 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187483056 CA6232393 |
229 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140935979 CA226479840 |
231 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1250234052 CA382355909 |
233 | D>G | No |
ClinGen gnomAD |
|
|
CA382355920 rs777820606 |
234 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA382355918 rs777820606 |
234 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6232394 rs777820606 |
234 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6232395 rs144602685 |
235 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382355952 rs1171558603 |
236 | I>T | No |
ClinGen gnomAD |
|
|
rs1413054976 CA382355946 |
236 | I>V | No |
ClinGen gnomAD |
|
|
rs1480240351 CA382355960 |
237 | P>S | No |
ClinGen gnomAD |
|
|
rs757119029 CA6232396 |
238 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs745613598 CA6232398 |
239 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382355996 rs1479963505 |
240 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA382356025 rs900555555 |
242 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA226479870 rs900555555 |
242 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6232399 rs201499695 |
243 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395463619 CA382356051 |
245 | V>L | No |
ClinGen gnomAD |
|
|
rs1336480651 CA382356095 |
249 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779787836 CA6232400 |
251 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA226479887 rs1043857823 |
253 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382356147 rs1043857823 |
253 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1289819331 CA382356144 |
253 | G>R | No |
ClinGen gnomAD |
|
|
rs369349413 CA6232402 |
254 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868278773 CA226479889 |
255 | A>T | No |
ClinGen Ensembl |
|
|
CA6232404 rs761063422 |
256 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761063422 CA382356173 |
256 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295053916 CA382356213 |
258 | K>N | No |
ClinGen TOPMed |
|
|
CA382356208 rs1482273135 |
258 | K>T | No |
ClinGen gnomAD |
|
|
CA6232420 rs748890479 |
259 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768254320 CA6232421 |
261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973924934 CA226479985 |
262 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382356297 rs1488840353 |
264 | Q>P | No |
ClinGen gnomAD |
|
|
CA6232422 rs778307557 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA226480029 rs1025468295 |
268 | I>T | No |
ClinGen TOPMed |
|
|
rs1447535242 CA382356324 |
268 | I>V | No |
ClinGen gnomAD |
|
|
CA6232423 rs747654767 |
269 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747654767 CA6232424 |
269 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382356366 rs1162247344 |
272 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6232426 rs374428019 |
278 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382356442 rs1441655868 |
279 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759948302 CA6232427 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770136880 CA6232428 |
280 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382356481 rs1362431390 |
283 | K>T | No |
ClinGen gnomAD |
|
|
rs1299042667 CA382356504 |
285 | K>R | No |
ClinGen gnomAD |
|
|
CA6232457 rs368306104 |
287 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6232456 rs368306104 |
287 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200139509 CA382356634 |
289 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200139509 CA382356636 |
289 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200139509 CA6232458 |
289 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1352488616 CA382356660 |
291 | W>R | No |
ClinGen gnomAD |
|
|
CA382356675 rs1229276906 |
292 | Q>* | No |
ClinGen gnomAD |
|
|
CA382356678 rs1229276906 |
292 | Q>K | No |
ClinGen gnomAD |
|
|
CA6232459 rs754743877 |
295 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6232460 rs372057965 |
297 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143018025 CA6232461 |
297 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375348736 CA6232464 |
300 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382356825 rs1414235166 |
303 | L>F | No |
ClinGen gnomAD |
|
|
rs756613156 CA6232465 |
303 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780547843 CA6232466 |
304 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232467 rs749631821 |
306 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 307 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182480084 CA382356924 |
310 | Q>H | No |
ClinGen gnomAD |
|
|
rs751313909 CA382356960 |
313 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751313909 COSM690935 CA6232468 |
313 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6232469 rs774781719 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382356988 rs1215328722 |
316 | V>I | No |
ClinGen TOPMed |
|
|
CA6232470 rs748351387 |
320 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6232471 rs772329319 |
321 | Q>* | No |
ClinGen ExAC |
|
|
rs369672198 CA226480799 |
323 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6232472 rs773455328 |
324 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs956100028 CA226480804 |
325 | I>V | No |
ClinGen gnomAD |
|
|
rs1282432413 CA382357116 |
326 | V>A | No |
ClinGen TOPMed |
|
|
CA6232473 rs766241332 |
327 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232474 rs776616887 |
329 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs368755850 CA226480817 |
330 | Q>E | No |
ClinGen ESP |
|
|
CA226480818 rs969598633 |
332 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA226480822 rs767353195 |
333 | S>C | No |
ClinGen Ensembl |
|
|
CA6232475 rs372344089 |
334 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1229807945 CA382357190 |
335 | P>L | No |
ClinGen TOPMed |
|
|
rs148342933 CA6232477 |
337 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 338 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754352709 COSM690934 CA6232505 |
338 | S>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382357230 rs1201148354 |
340 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755533049 CA6232506 |
341 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779493418 CA6232507 |
342 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753124520 CA382357248 |
343 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753124520 CA6232508 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382741947 CA382357258 |
344 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 347 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA226481998 rs1008620580 |
347 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs758822584 CA382357286 |
348 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758822584 CA6232509 |
348 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs984153355 CA226482023 |
351 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs984153355 CA382357313 |
351 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382357354 rs1565290760 |
354 | S>P | No |
ClinGen Ensembl |
|
|
rs747219830 CA6232511 |
355 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232513 rs781350908 |
357 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769730121 CA6232514 |
358 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs139951951 CA6232516 |
359 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1420801548 | 359 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139951951 CA6232515 |
359 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773915650 CA6232518 |
360 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382357477 rs761506308 |
362 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6232519 rs761506308 |
362 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161412793 CA382357489 |
363 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382357486 rs1161412793 |
363 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6232521 rs542312413 |
364 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760044024 CA6232522 |
364 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760044024 CA382357507 |
364 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382357511 rs1314107972 |
365 | E>K | No |
ClinGen TOPMed |
|
|
rs753251220 CA6232523 |
366 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382357550 rs758869867 |
367 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565290805 CA382357548 |
367 | H>R | No |
ClinGen Ensembl |
|
|
CA6232526 rs764528038 |
368 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1349418209 CA382357560 |
369 | Y>H | No |
ClinGen gnomAD |
|
|
CA6232527 rs751818567 |
372 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6232528 rs757528393 |
373 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs373243739 CA6232529 |
374 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6232530 rs745978032 |
377 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382357725 rs1482170274 |
381 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs147235215 CA6232552 |
383 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147235215 CA382358180 |
383 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6232553 rs749318218 |
384 | K>* | No |
ClinGen ExAC |
|
|
CA382358205 rs1427657582 |
385 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA226482923 rs1029276436 |
386 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754941546 CA6232554 |
388 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754941546 CA226482924 |
388 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457098753 CA382358258 |
390 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1291242241 CA382358280 |
391 | M>I | No |
ClinGen gnomAD |
|
|
CA382358288 rs1442242787 CA382358290 |
392 | M>I | No |
ClinGen gnomAD |
|
|
CA382358286 rs1369169539 |
392 | M>T | No |
ClinGen gnomAD |
|
|
rs1450762585 CA382358312 |
394 | H>Q | No |
ClinGen TOPMed |
|
|
CA6232556 rs748031133 |
394 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs566018883 CA6232557 |
397 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA226482940 rs566018883 |
397 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6232558 rs777520439 |
398 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274159031 CA382358358 |
399 | P>R | No |
ClinGen gnomAD |
|
|
rs1192022226 CA382358351 |
399 | P>T | No |
ClinGen gnomAD |
|
|
CA6232559 rs746638316 |
400 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382358367 rs1461888959 |
400 | F>S | No |
ClinGen TOPMed |
|
|
CA382358385 rs1219670575 |
402 | H>P | No |
ClinGen gnomAD |
|
|
CA382358387 rs1219670575 |
402 | H>R | No |
ClinGen gnomAD |
|
|
rs866797955 CA226482947 |
402 | H>Y | No |
ClinGen Ensembl |
|
|
rs770655353 CA6232561 |
403 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA226482963 rs915231908 |
405 | M>I | No |
ClinGen Ensembl |
|
|
CA226482965 rs966671158 |
406 | R>T | No |
ClinGen Ensembl |
|
|
CA382358426 rs1187974731 |
408 | S>A | No |
ClinGen gnomAD |
|
|
CA6232563 rs140719424 |
408 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939603700 CA226482980 |
410 | P>S | No |
ClinGen Ensembl |
|
|
CA382358465 rs1162310552 |
414 | D>G | No |
ClinGen gnomAD |
|
|
CA6232565 rs774709960 |
416 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226482987 rs1055449249 |
422 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6232566 rs767747153 |
423 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271083623 CA382358574 |
424 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA226483021 rs916785618 |
424 | S>R | No |
ClinGen Ensembl |
|
|
rs930384502 CA226483029 |
434 | Q>K | No |
ClinGen Ensembl |
|
|
rs1335532275 CA382358689 |
434 | Q>L | No |
ClinGen gnomAD |
|
|
rs1266319608 CA382358701 |
436 | K>E | No |
ClinGen gnomAD |
|
|
rs887554981 CA226483030 |
436 | K>R | No |
ClinGen TOPMed |
|
|
CA6232571 rs753921272 |
438 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571873238 CA6232572 |
440 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382358745 rs1242456058 |
440 | L>Q | No |
ClinGen gnomAD |
|
|
rs1222464971 CA382358855 |
443 | R>S | No |
ClinGen Ensembl |
|
|
CA6232597 rs757106532 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1289169649 CA382358870 |
446 | A>T | No |
ClinGen TOPMed |
|
|
CA6232600 rs755699922 |
448 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs745485844 CA6232599 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6232603 rs772464969 |
451 | L>* | No |
ClinGen ExAC |
|
|
CA6232605 rs747438239 |
452 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6232604 rs773654852 |
452 | A>T | No |
ClinGen ExAC |
|
|
rs771250985 CA6232606 |
453 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6232607 rs776884086 |
454 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382358920 rs199767485 |
454 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM933430 rs199767485 CA6232608 |
454 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6232609 rs765459175 |
458 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1439205431 CA382358950 |
459 | Q>* | No |
ClinGen gnomAD |
|
|
CA6232610 rs775435998 |
462 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1245655009 CA382358981 |
463 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763029562 CA6232611 |
465 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196108174 CA382358994 |
465 | S>P | No |
ClinGen gnomAD |
|
|
CA6232612 rs764182773 |
468 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751540459 CA6232613 |
468 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382359027 rs1410777313 |
470 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs587780393 RCV000117602 CA231290 |
473 | S>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs888688449 CA226486161 |
474 | S>R | No |
ClinGen TOPMed |
|
|
rs767398887 CA6232615 |
475 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1943967317 RCV001053359 |
481 | S>missing | No |
ClinVar dbSNP |
|
|
CA6232617 RCV001053783 rs372622191 |
482 | Q>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372622191 CA6232618 |
482 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382359122 rs1166133353 |
484 | Y>C | No |
ClinGen gnomAD |
|
|
CA6232620 rs778290669 |
486 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747489720 CA6232621 |
488 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196040162 CA382359150 |
488 | C>Y | No |
ClinGen gnomAD |
|
|
rs1565294427 CA382360397 |
490 | S>F | No |
ClinGen Ensembl |
|
|
CA382360406 rs1165694419 |
491 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs34380494 CA382360477 |
494 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1348445411 CA382360530 |
497 | I>T | No |
ClinGen TOPMed |
|
|
CA6232639 rs757765911 |
498 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232641 rs200969521 |
503 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6232640 rs200969521 |
503 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6232642 rs780182418 |
503 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382360633 rs1333270158 |
504 | V>I | No |
ClinGen gnomAD |
|
|
rs749506103 CA6232643 |
506 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376786281 CA6232645 |
512 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6232646 RCV000501835 rs761922335 |
513 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1944040055 RCV001209082 |
514 | L>missing | No |
ClinVar dbSNP |
|
|
CA6232648 rs773190300 |
515 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382360884 rs1486747361 |
518 | E>K | No |
ClinGen gnomAD |
|
|
CA382360906 rs1170920711 |
519 | Q>* | No |
ClinGen TOPMed |
|
|
rs1450923958 CA382360939 |
520 | E>D | No |
ClinGen TOPMed |
|
|
RCV001311267 rs753523934 |
522 | Q>* | No |
ClinVar dbSNP |
|
|
rs753523934 CA6232651 |
522 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6232654 rs372113766 |
528 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1024526246 CA226490728 |
528 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 528 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573019729 CA226492232 |
531 | Q>* | No |
ClinGen Ensembl |
|
|
rs762487787 CA6232673 |
535 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 538 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373487986 CA382361833 |
540 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754273143 CA6232678 |
541 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA382361891 rs1257541240 |
546 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755384457 CA6232680 |
553 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758497494 CA6232683 |
558 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6232684 rs777936433 |
559 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232685 rs746989740 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382362056 rs1418551681 |
561 | E>A | No |
ClinGen gnomAD |
|
|
rs369613059 CA6232688 |
562 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369613059 CA6232687 |
562 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354607038 CA382362079 |
563 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6232690 rs540420410 |
569 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6232691 rs762691540 |
570 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6232692 rs199691353 |
570 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293656553 CA382362170 |
571 | V>M | No |
ClinGen gnomAD |
|
|
CA382362181 rs1216549051 |
572 | A>T | No |
ClinGen gnomAD |
|
|
CA6232694 rs761173998 |
575 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232695 rs766972176 |
575 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382362234 rs1231454528 |
576 | G>A | No |
ClinGen gnomAD |
|
|
rs754395746 CA6232696 |
577 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6232697 rs755437402 |
578 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211242936 CA382362270 |
579 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6232698 rs765716974 |
579 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM933432 rs568876133 CA6232707 |
583 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs548231700 CA6232709 |
583 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382362432 rs548231700 |
583 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 585 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527602360 CA6232712 |
588 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382362516 rs1475280394 |
590 | S>G | No |
ClinGen gnomAD |
|
|
CA382362527 rs1157494039 |
590 | S>R | No |
ClinGen gnomAD |
|
|
CA382362564 rs1257883877 |
593 | M>I | No |
ClinGen TOPMed |
|
|
rs1402987430 CA382362554 |
593 | M>V | No |
ClinGen gnomAD |
|
|
rs1591392785 CA382362575 |
594 | V>G | No |
ClinGen Ensembl |
|
|
CA6232713 rs767106792 |
595 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA382362598 rs777330452 |
596 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979902712 CA226493612 |
598 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6232715 rs760147899 |
598 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA226493613 rs565236858 |
599 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 601 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6232716 rs765770241 |
601 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341548172 CA382362671 |
603 | D>G | No |
ClinGen TOPMed |
|
|
rs1591392802 CA382362718 |
607 | S>R | No |
ClinGen Ensembl |
|
|
CA382362714 rs1318526321 |
607 | S>T | No |
ClinGen TOPMed |
|
|
rs1591392810 CA382362725 |
608 | D>G | No |
ClinGen Ensembl |
|
|
CA6232717 rs753120725 |
608 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA226493643 rs570429182 |
611 | Q>E | No |
ClinGen Ensembl |
|
|
rs1479981407 CA382362768 |
612 | D>A | No |
ClinGen Ensembl |
|
|
CA382362820 rs750464269 |
616 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232723 rs750464269 |
616 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382362828 rs1281944341 |
617 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA382362830 rs1281944341 |
617 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs960230109 CA226493668 |
618 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1180408966 CA382362848 |
619 | R>C | No |
ClinGen gnomAD |
|
|
rs1359862633 CA382362849 |
619 | R>H | No |
ClinGen gnomAD |
|
|
CA6232724 rs756049765 |
623 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382362910 rs1178328147 |
625 | V>I | No |
ClinGen gnomAD |
|
|
CA382362919 rs1453029230 |
626 | Q>E | No |
ClinGen gnomAD |
|
|
rs1373469807 CA382362927 |
626 | Q>H | No |
ClinGen TOPMed |
|
|
CA6232727 rs768336457 |
628 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747737081 CA6232729 |
629 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6232731 rs772851172 |
634 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6232732 rs200962434 |
635 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149437873 CA226493712 |
641 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA382363103 rs1319001675 |
642 | L>H | No |
ClinGen TOPMed |
|
|
CA382363113 rs1565295885 |
643 | M>T | No |
ClinGen Ensembl |
|
|
CA6232735 rs143760933 |
645 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143760933 CA382363136 |
645 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369932755 CA382363139 |
646 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382363145 rs1348099125 |
647 | S>G | No |
ClinGen gnomAD |
|
|
CA382363167 rs1314442179 |
649 | C>* | No |
ClinGen TOPMed |
|
|
rs764341182 CA6232737 |
650 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382363189 rs1439117720 |
652 | L>L | No |
ClinGen gnomAD |
|
|
CA382363188 rs1439117720 |
652 | L>S | No |
ClinGen gnomAD |
1 associated diseases with Q9NVC6
[MIM: 613668]: Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA)
A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. {ECO:0000269|PubMed:20950787}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. {ECO:0000269|PubMed:20950787}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NVC6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NVC6 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| core mediator complex | 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 core mediator complex has a stimulatory effect on basal transcription, and contains most of the same subdomains as the larger form of mediator complex -- a head domain comprising proteins known in Saccharomyces as 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; and a tail consisting of Gal11p, Med2p, Pgd1p, and Sin4p -- but lacks the regulatory subcomplex comprising Ssn2, -3, and -8, and Srb8 proteins. Metazoan core mediator complexes have similar modular structures and include homologs of yeast Srb and Med proteins. |
| mediator complex | 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 mediator complex is required for activation of transcription of most protein-coding genes, but can also act as a transcriptional corepressor. 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| nuclear thyroid hormone receptor binding | Binding to a nuclear thyroid hormone receptor. |
| nuclear vitamin D receptor binding | Binding to a nuclear vitamin D receptor, a nuclear receptor that mediates the action of vitamin D by binding DNA and controlling the transcription of hormone-sensitive genes. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| RNA polymerase II preinitiation complex assembly | The aggregation, arrangement and bonding together of proteins on an RNA polymerase II promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription by RNA polymerase. |
| 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. |
| transcription initiation at RNA polymerase II promoter | A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGVRAVRIS | IESACEKQVH | EVGLDGTETY | LPPLSMSQNL | ARLAQRIDFS | QGSGSEEEEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGTEGDAQEW | PGAGSSADQD | DEEGVVKFQP | SLWPWDSVRN | NLRSALTEMC | VLYDVLSIVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DKKFMTLDPV | SQDALPPKQN | PQTLQLISKK | KSLAGAAQIL | LKGAERLTKS | VTENQENKLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RDFNSELLRL | RQHWKLRKVG | DKILGDLSYR | SAGSLFPHHG | TFEVIKNTDL | DLDKKIPEDY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CPLDVQIPSD | LEGSAYIKVS | IQKQAPDIGD | LGTVNLFKRP | LPKSKPGSPH | WQTKLEAAQN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLLCKEIFAQ | LSREAVQIKS | QVPHIVVKNQ | IISQPFPSLQ | LSISLCHSSN | DKKSQKFATE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KQCPEDHLYV | LEHNLHLLIR | EFHKQTLSSI | MMPHPASAPF | GHKRMRLSGP | QAFDKNEINS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQSSEGLLEK | IIKQAKHIFL | RSRAAATIDS | LASRIEDPQI | QAHWSNINDV | YESSVKVLIT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SQGYEQICKS | IQLQLNIGVE | QIRVVHRDGR | VITLSYQEQE | LQDFLLSQMS | QHQVHAVQQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AKVMGWQVLS | FSNHVGLGPI | ESIGNASAIT | VASPSGDYAI | SVRNGPESGS | KIMVQFPRNQ |
| 610 | 620 | 630 | 640 | 650 | |
| CKDLPKSDVL | QDNKWSHLRG | PFKEVQWNKM | EGRNFVYKME | LLMSALSPCL | L |