P05093
PR
Gene name |
CYP17A1 |
Protein name |
Steroid 17-alpha-hydroxylase/17,20 lyase |
Names |
17-alpha-hydroxyprogesterone aldolase, CYPXVII, Cytochrome P450 17A1, Cytochrome P450-C17, Cytochrome P450c17, Steroid 17-alpha-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1586 |
EC number |
1.14.14.19: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
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
18 structures for P05093
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3RUK | X-ray | 260 A | A/B/C/D | 24-508 | PDB |
| 3SWZ | X-ray | 240 A | A/B/C/D | 24-508 | PDB |
| 4NKV | X-ray | 265 A | A/B/C/D | 24-508 | PDB |
| 4NKW | X-ray | 250 A | A/B/C/D | 24-508 | PDB |
| 4NKX | X-ray | 279 A | A/B/C/D | 24-508 | PDB |
| 4NKY | X-ray | 255 A | A/B/C/D | 24-508 | PDB |
| 4NKZ | X-ray | 300 A | A/B/C/D | 24-508 | PDB |
| 5IRQ | X-ray | 220 A | A/B/C/D | 24-508 | PDB |
| 5IRV | X-ray | 310 A | A/B/C/D | 24-508 | PDB |
| 5UYS | X-ray | 239 A | A/B/C/D | 24-508 | PDB |
| 6CHI | X-ray | 270 A | A/B/C/D | 24-508 | PDB |
| 6CIR | X-ray | 265 A | A/B/C/D | 24-508 | PDB |
| 6CIZ | X-ray | 260 A | A/B/C/D | 24-508 | PDB |
| 6WR0 | X-ray | 270 A | A/B/C/D | 24-508 | PDB |
| 6WR1 | X-ray | 185 A | A/B | 24-508 | PDB |
| 6WW0 | X-ray | 201 A | A/B/C/D | 24-508 | PDB |
| 8FDA | X-ray | 220 A | A/B/C/D | 24-508 | PDB |
| AF-P05093-F1 | Predicted | AlphaFoldDB |
402 variants for P05093
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1590204913 RCV000806853 RCV001830758 |
1 | M>V | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001825787 CA5669661 RCV000885354 rs72559703 |
11 | T>I | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA115186 RCV000001862 rs104894141 |
17 | W>* | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61754263 RCV001249435 RCV000303229 CA5669659 RCV000488920 |
21 | R>K | Congenital adrenal hyperplasia Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000001874 CA115198 rs104894152 |
27 | Y>* | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_022745 | 35 | P>L | AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity [UniProt] | Yes | UniProt |
| VAR_001270 | 53 | F>del | AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity [UniProt] | Yes | UniProt |
|
RCV001826402 rs121434319 RCV001382543 RCV000001850 |
54 | F>missing | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1183147390 VAR_001271 CA377940779 |
64 | Y>S | AH5 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs376074317 RCV001106936 CA5669630 |
67 | R>H | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000001868 rs786205062 |
69 | G>missing | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial [ClinVar] | Yes |
ClinVar dbSNP |
|
CA212295998 RCV001280135 rs931528592 |
75 | I>M | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs370973897 CA5669625 RCV001280133 |
79 | H>D | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370973897 RCV001280134 CA212295994 |
79 | H>N | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs104894146 CA115188 RCV000001864 VAR_013147 |
93 | F>C | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA115200 rs104894153 VAR_073043 RCV001067683 RCV000001875 RCV002298430 |
96 | R>Q | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Congenital adrenal hyperplasia AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000255053 RCV003114170 VAR_022746 COSM3720573 RCV000501502 RCV000001858 CA115183 rs104894138 |
96 | R>W | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Variant assessed as Somatic; 0.0 impact. Congenital adrenal hyperplasia haematopoietic_and_lymphoid_tissue Deficiency of steroid 17-alpha-monooxygenase AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000001852 RCV000288112 rs104894135 VAR_001272 RCV000763211 CA115179 |
106 | S>P | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Deficiency of steroid 17-alpha-monooxygenase AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_001273 | 112 | I>II | AH5 [UniProt] | Yes | UniProt |
|
CA115189 RCV000001865 VAR_022747 rs104894147 |
114 | F>V | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_022748 rs104894148 RCV000001866 CA115190 |
116 | D>V | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_073044 | 121 | W>R | AH5; partial loss of activity [UniProt] | Yes | UniProt |
|
COSM1345513 RCV000001876 CA115201 RCV001376810 rs104894154 RCV001826403 |
125 | R>Q | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Variant assessed as Somatic; 0.0 impact. large_intestine Deficiency of steroid 17-alpha-monooxygenase [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA377940301 RCV001106935 rs1485258085 |
138 | G>S | Variant assessed as Somatic; impact. Deficiency of steroid 17-alpha-monooxygenase [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
| VAR_073045 | 174 | A>E | AH5 [UniProt] | Yes | UniProt |
| VAR_022749 | 177 | N>D | AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities [UniProt] | Yes | UniProt |
|
rs104894150 RCV000001873 CA115196 |
201 | Y>N | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000392668 rs142435666 CA5669518 |
210 | S>G | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1428700861 CA377939768 RCV001270218 |
215 | V>G | Premature ovarian failure [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001233983 rs879802265 RCV002497801 CA212293774 |
220 | W>* | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs202092158 RCV001106934 CA212293296 |
224 | F>S | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000001854 rs104894136 RCV000709946 RCV000001855 CA115180 RCV000497599 |
239 | R>* | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial Breast cancer, susceptibility to Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5669460 RCV000352347 rs746480412 |
283 | D>H | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815207 RCV002501117 rs766331452 |
290 | N>missing | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245231 RCV002499416 rs1844105842 |
329 | Y>missing | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104894144 RCV000001871 VAR_022750 CA115194 |
329 | Y>D | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs759060233 VAR_022751 |
330 | E>missing | AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities [UniProt] | Yes |
UniProt dbSNP |
|
RCV002555018 rs142037395 RCV001104161 CA5669421 RCV002558042 |
330 | E>K | Inborn genetic diseases Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs759060233 VAR_022751 |
330 | E>del | AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities [UniProt] | Yes |
UniProt dbSNP |
|
RCV001104160 rs765987481 CA5669414 |
340 | R>H | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000001856 rs104894137 VAR_001274 CA115182 |
342 | P>T | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_022752 RCV001804711 RCV000001867 RCV002221463 CA115191 rs104894149 |
347 | R>C | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial Congenital adrenal hyperplasia Deficiency of steroid 17-alpha-monooxygenase AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA115184 RCV000185577 RCV001387555 VAR_001275 RCV000001860 COSM1345509 rs61754278 |
347 | R>H | 17,20-lyase deficiency, isolated Variant assessed as Somatic; 0.0 impact. large_intestine Deficiency of steroid 17-alpha-monooxygenase AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs104894139 VAR_001276 RCV001804710 RCV001851566 RCV000001861 CA115185 |
358 | R>Q | 17,20-lyase deficiency, isolated Congenital adrenal hyperplasia AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV003114171 RCV000810182 RCV000001869 CA115192 rs104894142 RCV001831505 VAR_022753 |
362 | R>C | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Variant assessed as Somatic; 0.0 impact. Congenital adrenal hyperplasia Deficiency of steroid 17-alpha-monooxygenase AH5 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001833850 CA5669407 rs752811843 RCV001211018 |
362 | R>H | Variant assessed as Somatic; 0.0 impact. Deficiency of steroid 17-alpha-monooxygenase [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5669401 rs760695410 RCV000809884 VAR_001277 RCV001830766 |
373 | H>L | Deficiency of steroid 17-alpha-monooxygenase AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
CA377938703 rs1423560123 VAR_073046 |
373 | H>N | AH5 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001387553 CA16616913 RCV000477958 rs1060499582 |
388 | K>* | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_073047 | 406 | W>L | AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities [UniProt] | Yes | UniProt |
|
RCV000001870 RCV001851567 VAR_022754 rs104894143 CA115193 |
406 | W>R | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554879846 RCV000500014 CA377938402 |
414 | P>L | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104894155 RCV000001877 RCV000822737 CA115203 |
416 | R>H | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA212290893 VAR_022755 rs104894140 |
417 | F>C | AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA115195 VAR_022756 RCV001831506 rs104894145 RCV001220851 RCV000001872 |
428 | P>L | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Deficiency of steroid 17-alpha-monooxygenase AH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs777638364 CA5669340 VAR_001278 |
440 | R>H | Variant assessed as Somatic; 0.0 impact. AH5 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs104894151 CA115205 RCV000001879 |
453 | F>S | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs138630127 CA5669335 RCV000392674 |
455 | I>V | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746813353 RCV001280128 |
472 | Q>K | Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000498913 RCV000001849 RCV002271363 rs556794126 RCV000337017 |
480 | P>missing | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Congenital adrenal hyperplasia Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809331 RCV002265882 RCV000778268 rs756135168 |
487 | D>missing | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Deficiency of steroid 17-alpha-monooxygenase [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_001279 | 487 | D>del | AH5 [UniProt] | Yes | UniProt |
|
COSM1202822 VAR_001280 CA377937874 rs1250463562 |
496 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine AH5 [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
CA5669311 VAR_022757 rs763398879 |
496 | R>H | AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001048441 rs1361284521 |
1 | M>T | No |
ClinVar dbSNP |
|
|
RCV001211509 rs1844178791 |
2 | W>* | No |
ClinVar dbSNP |
|
|
CA5669665 rs774474909 |
3 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761929275 CA5669666 |
3 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs886171252 CA212296237 |
5 | V>G | No |
ClinGen TOPMed |
|
|
CA5669663 rs749456949 |
5 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779723871 CA5669662 |
10 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs528612678 CA212296202 |
13 | A>V | No |
ClinGen gnomAD |
|
|
rs998824476 CA212296186 |
21 | R>G | No |
ClinGen Ensembl |
|
|
CA377941053 rs1354556683 |
21 | R>S | No |
ClinGen TOPMed |
|
|
CA5669658 rs781329931 |
22 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs762563 CA212296179 VAR_011755 |
22 | C>W | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs368405367 CA212296175 |
23 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs368405367 CA212296172 |
23 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1360144239 CA377941028 |
26 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5669657 rs757251521 |
27 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1187242672 CA377941016 |
28 | P>S | No |
ClinGen TOPMed |
|
|
rs751185024 CA5669656 |
29 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA212296165 rs202102400 |
29 | K>R | No |
ClinGen Ensembl |
|
|
rs1341416067 CA377940999 |
30 | S>N | No |
ClinGen gnomAD |
|
|
CA5669655 rs777270119 |
31 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766687468 CA5669652 |
36 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA377940960 rs1394909194 |
37 | V>G | No |
ClinGen gnomAD |
|
|
CA377940955 rs1425406398 |
38 | G>A | No |
ClinGen gnomAD |
|
|
CA5669649 rs768069334 |
39 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5669648 rs762303530 |
39 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774295656 CA5669646 |
41 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs775823885 CA5669643 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs894320518 CA212296092 |
46 | H>Y | No |
ClinGen gnomAD |
|
|
CA5669640 rs776568154 |
47 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1431588115 CA377940887 |
49 | M>T | No |
ClinGen gnomAD |
|
|
rs770996975 CA5669639 |
50 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5669638 rs746908611 |
53 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338605474 CA377940851 |
54 | F>L | No |
ClinGen TOPMed |
|
|
rs1465948613 CA377940810 |
59 | K>I | No |
ClinGen gnomAD |
|
| rs1402132413 | 59 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1402132413 | 60 | Y>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370791765 CA5669636 |
62 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5669637 rs777171001 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA212296058 rs906926519 COSM914267 |
65 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750853745 CA5669632 |
67 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376074317 CA5669631 |
67 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752052614 CA377940759 |
68 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5669629 rs752052614 |
68 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA212296013 rs908864807 |
70 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA377940722 rs1290838496 |
73 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1376979758 CA377940719 |
74 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5669626 rs61754265 |
77 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464888181 CA377940692 |
78 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs974635568 CA212295992 |
79 | H>Q | No |
ClinGen TOPMed |
|
|
CA377940676 rs1220664949 |
81 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5669623 rs776580666 |
83 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669622 rs770800801 |
84 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1163541451 CA377940648 |
85 | V>A | No |
ClinGen gnomAD |
|
|
rs1163541451 CA377940647 |
85 | V>G | No |
ClinGen gnomAD |
|
|
CA5669619 rs771880642 |
87 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1240547300 CA377940639 |
87 | I>V | No |
ClinGen gnomAD |
|
|
rs778389140 CA5669617 |
90 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778389140 CA377940615 |
90 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377940579 rs1320026433 |
95 | G>V | No |
ClinGen gnomAD |
|
|
rs757599828 CA5669615 |
98 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs751850976 CA5669614 |
99 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377940541 rs1298428228 |
100 | A>T | No |
ClinGen gnomAD |
|
|
CA5669597 rs769319989 |
102 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1296911042 CA377940522 |
103 | D>A | No |
ClinGen gnomAD |
|
|
rs747477069 CA5669596 |
103 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669594 rs758961949 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs139936404 CA5669593 |
105 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5669589 rs760801519 |
108 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs750236382 CA5669588 |
109 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs548446966 CA5669586 |
112 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1297533084 CA377940459 |
113 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs550594217 CA212294523 |
113 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1278456429 CA377940450 |
115 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5669584 rs768546290 |
118 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774980374 CA5669582 |
119 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774980374 CA5669583 |
119 | A>T | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377940419 rs1277065246 |
120 | H>P | No |
ClinGen gnomAD |
|
|
CA377940415 rs1396086506 |
120 | H>Q | No |
ClinGen gnomAD |
|
|
rs942376359 RCV003058265 CA212294483 |
121 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs369461376 CA377940366 |
128 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369461376 CA5669580 |
128 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261887197 CA377940361 |
129 | M>T | No |
ClinGen TOPMed |
|
|
rs1241825453 CA377940364 |
129 | M>V | No |
ClinGen TOPMed |
|
|
CA377940354 rs1171685818 |
130 | A>T | No |
ClinGen gnomAD |
|
|
CA5669579 rs772285507 |
130 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377940309 rs1192632122 |
137 | D>N | No |
ClinGen gnomAD |
|
|
CA5669577 rs748494285 |
138 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA212294451 rs755526392 |
139 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669575 rs755526392 |
139 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377940249 rs1590204077 |
145 | I>T | No |
ClinGen Ensembl |
|
|
CA5669551 rs770597902 |
149 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs58822002 COSM330729 CA377940186 |
152 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs58822002 CA212294058 |
152 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5669549 rs774849280 |
156 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769287572 CA5669548 |
159 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377940138 rs1393104952 |
159 | T>I | No |
ClinGen gnomAD |
|
|
rs1363552935 CA377940129 |
161 | N>H | No |
ClinGen TOPMed |
|
|
CA377940123 rs767962487 |
161 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141821705 CA5669545 |
162 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745927932 CA5669544 |
163 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5669543 rs781316969 |
164 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669542 rs757454955 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453015988 CA377940094 |
166 | D>G | No |
ClinGen gnomAD |
|
|
rs1264807371 CA377940080 |
168 | S>Y | No |
ClinGen gnomAD |
|
|
CA5669541 rs751361358 |
169 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs758354727 CA5669540 |
173 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758354727 CA5669539 |
173 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752540777 CA5669538 |
174 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590203916 CA377940036 |
175 | V>G | No |
ClinGen Ensembl |
|
|
rs1234392302 CA377940019 |
178 | V>D | No |
ClinGen gnomAD |
|
|
CA212293938 rs945233088 |
178 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776193931 CA5669535 |
184 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1187326187 CA377939968 |
185 | N>K | No |
ClinGen TOPMed |
|
|
rs766199096 CA5669534 |
186 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590203905 CA377939961 |
187 | S>T | No |
ClinGen Ensembl |
|
|
rs375364403 CA5669530 |
192 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769089279 CA5669531 |
192 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5669529 rs775901707 |
193 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1173000590 CA377939912 |
194 | E>* | No |
ClinGen gnomAD |
|
|
CA5669527 rs745991883 |
196 | N>K | No |
ClinGen ExAC TOPMed |
|
|
CA212293866 rs61754273 |
197 | V>D | No |
ClinGen Ensembl |
|
|
rs372323467 CA5669526 |
197 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306262498 CA377939886 |
198 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590203882 CA377939861 |
201 | Y>* | No |
ClinGen Ensembl |
|
|
CA5669525 rs104894150 |
201 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669522 rs752518511 |
203 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5669523 rs575801994 |
203 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5669521 rs765148467 |
204 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754941252 CA5669520 |
206 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5669519 rs556134667 |
208 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377939812 rs1234855019 |
209 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377939804 rs1261511811 |
210 | S>T | No |
ClinGen gnomAD |
|
|
CA377939797 rs1223085112 |
211 | K>T | No |
ClinGen gnomAD |
|
|
rs760421916 CA5669517 |
212 | D>G | No |
ClinGen ExAC |
|
|
CA377939784 rs1333994059 |
213 | S>G | No |
ClinGen TOPMed |
|
|
CA5669516 rs750052005 |
213 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA377939762 rs767247558 |
216 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA212293787 rs200063521 |
216 | D>H | No |
ClinGen Ensembl |
|
|
CA5669513 rs775909420 |
219 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377939747 rs1403564001 |
219 | P>S | No |
ClinGen gnomAD |
|
|
CA5669512 rs770270001 |
222 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241814283 CA377939711 |
223 | I>V | No |
ClinGen gnomAD |
|
|
rs1458440922 RCV001040537 |
226 | N>missing | No |
ClinVar dbSNP |
|
|
CA377939664 rs1564778698 |
230 | E>K | No |
ClinGen Ensembl |
|
|
rs925956954 CA212293271 |
231 | K>N | No |
ClinGen TOPMed |
|
|
rs1202630660 CA377939634 |
234 | S>G | No |
ClinGen gnomAD |
|
|
CA212293244 rs146311005 |
234 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187500555 CA5669492 |
237 | K>E | No |
ClinGen 1000Genomes ExAC |
|
|
CA5669491 rs760806773 |
238 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5669490 rs773278607 |
239 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61754275 CA212293215 |
241 | D>Y | No |
ClinGen Ensembl |
|
|
rs748341718 CA377939568 |
244 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs772191433 CA5669489 |
244 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201002001 CA5669485 |
248 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5669486 rs768454603 |
248 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426141198 CA377939496 |
252 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs567775035 CA5669467 |
255 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5669468 rs774670296 |
255 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377939452 rs1194440789 |
259 | I>L | No |
ClinGen gnomAD |
|
|
rs1449519548 CA377939450 |
259 | I>T | No |
ClinGen TOPMed |
|
|
CA5669465 rs775419954 |
262 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA377939433 rs1486837362 |
262 | M>L | No |
ClinGen gnomAD |
|
|
rs1195505627 CA377939428 |
262 | M>R | No |
ClinGen TOPMed |
|
|
rs190959000 CA212292631 |
266 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780600568 CA5669462 |
273 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 283 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5669459 rs777542976 |
285 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669458 rs757985958 |
286 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1590203285 CA377939259 |
287 | L>F | No |
ClinGen Ensembl |
|
|
rs1459467256 CA377939216 |
293 | L>F | No |
ClinGen TOPMed |
|
|
rs766674965 CA5669455 |
294 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669452 rs748033151 |
296 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531000872 CA5669453 |
296 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5669454 rs377611039 |
296 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341484455 CA377939193 |
297 | G>A | No |
ClinGen TOPMed |
|
|
rs1185806538 CA377939186 |
298 | D>G | No |
ClinGen gnomAD |
|
|
CA377939179 rs1564778371 |
299 | I>T | No |
ClinGen Ensembl |
|
|
CA5669448 rs373661758 |
304 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs922575032 CA212292513 |
306 | T>A | No |
ClinGen TOPMed |
|
|
CA377939123 rs1322463902 |
308 | T>I | No |
ClinGen gnomAD |
|
|
rs1844112588 RCV001041548 |
311 | V>missing | No |
ClinVar dbSNP |
|
|
CA377939098 rs1228979193 |
312 | K>R | No |
ClinGen gnomAD |
|
|
rs533453265 CA212292500 |
315 | L>P | No |
ClinGen 1000Genomes |
|
|
rs764442967 CA377939072 |
316 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764442967 CA5669447 |
316 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669446 rs763199404 |
317 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA377939063 rs1161989755 |
318 | L>M | No |
ClinGen Ensembl |
|
|
CA5669444 rs769674152 |
320 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775438211 CA5669445 |
320 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs776680498 CA5669442 |
321 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669443 rs745629666 |
321 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171575097 CA377939036 |
322 | P>L | No |
ClinGen gnomAD |
|
|
CA377939031 rs1315642911 |
323 | Q>R | No |
ClinGen gnomAD |
|
|
rs1416990792 CA377938993 |
327 | K>Q | No |
ClinGen gnomAD |
|
|
rs1590203107 CA377938985 |
328 | L>F | No |
ClinGen Ensembl |
|
|
CA377938984 rs1590203107 |
328 | L>V | No |
ClinGen Ensembl |
|
|
rs374769118 CA377938975 |
329 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590203104 CA377938977 |
329 | Y>C | No |
ClinGen Ensembl |
|
|
rs104894144 CA5669423 |
329 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5669419 rs760473505 |
331 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772804570 CA5669417 |
332 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377938953 rs1241603758 |
333 | D>N | No |
ClinGen gnomAD |
|
|
rs1844105442 RCV001242178 |
335 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 339 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377938899 rs1281169684 |
340 | R>C | No |
ClinGen TOPMed |
|
|
rs1219130898 CA377938895 |
341 | T>A | No |
ClinGen TOPMed |
|
|
CA377938891 rs1301250258 |
341 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377938878 rs1257415388 |
344 | I>V | No |
ClinGen TOPMed |
|
|
CA377938856 rs104894149 |
347 | R>S | No |
ClinGen gnomAD |
|
|
CA5669412 rs138905928 |
349 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212292223 rs902026264 |
349 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751960113 CA5669409 |
355 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA212292191 rs61754279 |
363 | L>F | No |
ClinGen gnomAD |
|
|
rs765623104 CA5669406 |
364 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1347586947 CA377938747 |
366 | V>M | No |
ClinGen gnomAD |
|
|
CA5669404 COSM1504177 rs753683490 |
367 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1404399622 CA377938726 |
369 | M>T | No |
ClinGen gnomAD |
|
|
rs1195022348 CA377938729 |
369 | M>V | No |
ClinGen TOPMed |
|
|
rs766043032 CA5669403 |
371 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1241318078 CA377938709 |
372 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380329431 CA377938704 |
372 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5669399 rs771970497 |
376 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA377938678 rs1176754857 |
376 | N>S | No |
ClinGen gnomAD |
|
|
CA5669398 rs200798945 COSM220486 |
377 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA377938667 rs1564778081 |
378 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768302142 CA5669396 |
380 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA377938638 rs1372994262 |
380 | S>R | No |
ClinGen gnomAD |
|
|
rs750215825 CA5669383 |
381 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203219240 CA377938628 |
382 | G>A | No |
ClinGen gnomAD |
|
|
rs761671570 CA5669381 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377938594 rs1590202693 |
387 | D>G | No |
ClinGen Ensembl |
|
|
rs1438499447 CA377938596 |
387 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377938589 rs1060499582 |
388 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5669380 rs773865367 |
390 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA377938517 rs1315561755 |
398 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5669376 rs550316685 |
400 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5669375 rs769476639 |
401 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1194342049 CA377938496 |
402 | N>D | No |
ClinGen TOPMed |
|
|
rs1269872858 CA377938482 |
403 | E>D | No |
ClinGen TOPMed |
|
|
CA5669374 rs747400259 |
404 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA377938461 rs1408860561 |
406 | W>* | No |
ClinGen gnomAD |
|
|
CA377938455 rs1590202665 |
407 | H>P | No |
ClinGen Ensembl |
|
|
rs367833709 CA5669370 |
409 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669371 rs367833709 |
409 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377938440 rs1370493887 |
409 | P>S | No |
ClinGen gnomAD |
|
|
CA5669367 rs749363066 |
412 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5669366 rs780194004 |
413 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA377938385 rs1430177167 |
415 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1178684770 CA377938381 |
416 | R>C | No |
ClinGen gnomAD |
|
|
rs1266656474 CA377938370 |
418 | L>V | No |
ClinGen gnomAD |
|
|
rs762241248 CA5669351 |
419 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1486746955 CA377938356 |
420 | P>A | No |
ClinGen gnomAD |
|
|
CA5669349 rs775043521 |
420 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486746955 CA377938355 |
420 | P>S | No |
ClinGen gnomAD |
|
|
CA377938347 rs1207822609 |
421 | A>V | No |
ClinGen gnomAD |
|
|
CA5669347 rs749392282 |
422 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769919856 CA377938307 |
428 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769919856 CA5669345 |
428 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 432 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434741428 CA377938253 |
436 | G>A | No |
ClinGen gnomAD |
|
|
rs1434741428 CA377938252 |
436 | G>E | No |
ClinGen gnomAD |
|
|
rs757083287 CA5669342 |
436 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338930008 CA377938247 |
437 | A>E | No |
ClinGen gnomAD |
|
|
CA377938249 rs1407199701 |
437 | A>T | No |
ClinGen gnomAD |
|
|
CA5669341 rs751342821 |
439 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs868228603 CA377938232 |
440 | R>C | No |
ClinGen gnomAD |
|
|
rs868228603 CA212290846 |
440 | R>S | No |
ClinGen gnomAD |
|
|
CA377938222 rs1269372676 |
442 | C>R | No |
ClinGen gnomAD |
|
|
CA377938205 rs1430256295 |
444 | G>D | No |
ClinGen gnomAD |
|
|
rs1156234436 CA377938201 |
445 | E>Q | No |
ClinGen Ensembl |
|
|
CA212290840 rs965644070 |
448 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA377938179 rs965644070 |
448 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377938178 rs965644070 |
448 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5669339 COSM1345507 rs371825363 |
449 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752164207 CA5669338 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764758497 CA5669337 |
451 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA212290796 rs957099355 |
454 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs138630127 CA377938140 |
455 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138630127 CA5669334 |
455 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377938138 rs1456263727 |
455 | I>T | No |
ClinGen Ensembl |
|
|
rs762321338 CA5669333 |
456 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs746071573 CA212290787 |
456 | M>V | No |
ClinGen Ensembl |
|
|
rs1403637091 CA377938128 COSM1202820 |
457 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA377938085 rs1352754979 |
463 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs763457719 CA5669329 |
464 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377938068 rs1246323493 |
466 | E>K | No |
ClinGen TOPMed |
|
|
CA377938056 rs1422894550 |
467 | V>A | No |
ClinGen gnomAD |
|
|
CA377938055 rs1422894550 |
467 | V>G | No |
ClinGen gnomAD |
|
|
CA377938052 rs1590202312 |
468 | P>S | No |
ClinGen Ensembl |
|
|
rs781451590 CA5669326 |
470 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs781451590 CA5669325 |
470 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5669324 rs140903153 |
471 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs746813353 CA5669323 |
472 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205034585 CA377938015 |
474 | P>S | No |
ClinGen gnomAD |
|
|
CA377937989 rs1242989937 |
478 | G>D | No |
ClinGen gnomAD |
|
|
CA212290641 rs1005529730 |
478 | G>S | No |
ClinGen TOPMed |
|
|
rs1242989937 CA377937988 |
478 | G>V | No |
ClinGen gnomAD |
|
|
rs776894065 CA212290634 |
480 | P>T | No |
ClinGen Ensembl |
|
|
rs1393268729 CA377937967 |
482 | V>M | No |
ClinGen gnomAD |
|
|
rs373888712 CA5669320 |
483 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147557447 CA5669318 |
486 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5669316 rs760333995 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669315 rs760333995 |
487 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212290603 rs938338450 |
490 | K>E | No |
ClinGen Ensembl |
|
|
CA377937879 rs1416831514 |
495 | V>A | No |
ClinGen gnomAD |
|
|
rs764469261 CA5669312 |
495 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763398879 CA377937872 |
496 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669309 rs771259164 |
498 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771259164 CA377937863 |
498 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759680642 CA5669308 |
498 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776625979 CA5669307 |
499 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267602347 CA212290598 |
501 | E>K | No |
ClinGen Ensembl |
|
|
rs1241489257 CA377937836 |
502 | A>P | No |
ClinGen gnomAD |
|
|
CA377937821 rs1287826043 |
504 | A>T | No |
ClinGen gnomAD |
|
|
CA377937816 rs1046640598 |
505 | E>* | No |
ClinGen TOPMed |
|
|
rs1046640598 CA212290579 |
505 | E>K | No |
ClinGen TOPMed |
|
|
CA377937807 rs1347391253 |
506 | G>D | No |
ClinGen gnomAD |
|
|
rs1405564305 CA377937810 |
506 | G>S | No |
ClinGen gnomAD |
|
|
CA377937801 rs1321494086 |
507 | S>N | No |
ClinGen gnomAD |
|
|
CA5669305 rs747186331 |
507 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1055145845 CA212290556 |
508 | T>I | No |
ClinGen TOPMed gnomAD |
1 associated diseases with P05093
[MIM: 202110]: Adrenal hyperplasia 5 (AH5)
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types
Without disease ID
- A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types
1 regional properties for P05093
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 435 - 444 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.19 | With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 17-alpha-hydroxyprogesterone aldolase activity | Catalysis of the reaction: 17-alpha-hydroxyprogesterone = acetaldehyde + 4-androstene-3,17-dione. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| iron ion binding | Binding to an iron (Fe) ion. |
| oxygen binding | Binding to oxygen (O2). |
| steroid 17-alpha-monooxygenase activity | Catalysis of the reaction: a steroid + AH2 + O2 = a 17a-hydroxysteroid + A + H2O. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| androgen biosynthetic process | The chemical reactions and pathways resulting in the formation of androgens, C19 steroid hormones that can stimulate the development of male sexual characteristics. |
| glucocorticoid biosynthetic process | The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. |
| hormone biosynthetic process | The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. |
| progesterone metabolic process | The chemical reactions and pathways involving progesterone, a steroid hormone produced in the ovary which prepares and maintains the uterus for pregnancy. Also found in plants. |
| sex differentiation | The establishment of the sex of an organism by physical differentiation. |
| steroid biosynthetic process | The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. |
| steroid metabolic process | The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
53 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0IIF9 | CYP2U1 | Cytochrome P450 2U1 | Bos taurus (Bovine) | PR |
| O18963 | CYP2E1 | Cytochrome P450 2E1 | Bos taurus (Bovine) | PR |
| P12394 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Gallus gallus (Chicken) | PR |
| Q8HYN1 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Pan troglodytes (Chimpanzee) | PR |
| Q95078 | Cyp18a1 | Cytochrome P450 18a1 | Drosophila melanogaster (Fruit fly) | PR |
| P33260 | CYP2C18 | Cytochrome P450 2C18 | Homo sapiens (Human) | PR |
| Q7Z449 | CYP2U1 | Cytochrome P450 2U1 | Homo sapiens (Human) | PR |
| P05177 | CYP1A2 | Cytochrome P450 1A2 | Homo sapiens (Human) | PR |
| P51589 | CYP2J2 | Cytochrome P450 2J2 | Homo sapiens (Human) | PR |
| P10632 | CYP2C8 | Cytochrome P450 2C8 | Homo sapiens (Human) | PR |
| P05181 | CYP2E1 | Cytochrome P450 2E1 | Homo sapiens (Human) | PR |
| Q9D816 | Cyp2c55 | Cytochrome P450 2C55 | Mus musculus (Mouse) | PR |
| O54749 | Cyp2j5 | Cytochrome P450 2J5 | Mus musculus (Mouse) | PR |
| O54750 | Cyp2j6 | Cytochrome P450 2J6 | Mus musculus (Mouse) | PR |
| P24456 | Cyp2d10 | Cytochrome P450 2D10 | Mus musculus (Mouse) | PR |
| Q9CX98 | Cyp2u1 | Cytochrome P450 2U1 | Mus musculus (Mouse) | PR |
| P24457 | Cyp2d11 | Cytochrome P450 2D11 | Mus musculus (Mouse) | PR |
| P27786 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Mus musculus (Mouse) | PR |
| P79383 | CYP2E1 | Cytochrome P450 2E1 | Sus scrofa (Pig) | PR |
| P33273 | Cyp2c55 | Cytochrome P450 2C55 | Rattus norvegicus (Rat) | PR |
| P05182 | Cyp2e1 | Cytochrome P450 2E1 | Rattus norvegicus (Rat) | PR |
| P24470 | Cyp2c23 | Cytochrome P450 2C23 | Rattus norvegicus (Rat) | PR |
| P12939 | Cyp2d10 | Cytochrome P450 2D10 | Rattus norvegicus (Rat) | PR |
| P10633 | Cyp2d1 | Cytochrome P450 2D1 | Rattus norvegicus (Rat) | PR |
| P05179 | Cyp2c7 | Cytochrome P450 2C7 | Rattus norvegicus (Rat) | PR |
| P12938 | Cyp2d3 | Cytochrome P450 2D3 | Rattus norvegicus (Rat) | PR |
| O35293 | Cyp2f2 | Cytochrome P450 2F2 | Rattus norvegicus (Rat) | PR |
| P20814 | Cyp2c13 | Cytochrome P450 2C13, male-specific | Rattus norvegicus (Rat) | PR |
| P11715 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Rattus norvegicus (Rat) | PR |
| Q8HYM9 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Macaca mulatta (Rhesus macaque) | PR |
| Q6YV88 | CYP71Z7 | Ent-cassadiene hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| A3A871 | CYP71Z6 | Ent-isokaurene C2/C3-hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| Q7X7X4 | CYP99A2 | Cytochrome P450 99A2 | Oryza sativa subsp japonica (Rice) | PR |
| O48957 | CYP99A1 | Cytochrome P450 CYP99A1 | Sorghum bicolor (Sorghum) (Sorghum vulgare) | PR |
| Q42797 | CYP73A11 | Trans-cinnamate 4-monooxygenase | Glycine max (Soybean) (Glycine hispida) | PR |
| O48922 | CYP98A2 | Cytochrome P450 98A2 | Glycine max (Soybean) (Glycine hispida) | PR |
| Q9XHC6 | CYP93E1 | Beta-amyrin 24-hydroxylase | Glycine max (Soybean) (Glycine hispida) | PR |
| O81971 | CYP71D9 | Cytochrome P450 71D9 | Glycine max (Soybean) (Glycine hispida) | PR |
| O49340 | CYP71A12 | Cytochrome P450 71A12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64638 | CYP76C3 | Cytochrome P450 76C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58049 | CYP71B11 | Cytochrome P450 71B11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58050 | CYP71B13 | Cytochrome P450 71B13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q96514 | CYP71B7 | Cytochrome P450 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CA61 | CYP98A8 | Cytochrome P450 98A8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM0 | CYP71B23 | Cytochrome P450 71B23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM6 | CYP71B17 | Cytochrome P450 71B17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM7 | CYP71B16 | Cytochrome P450 71B16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LVD2 | CYP71B10 | Cytochrome P450 71B10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SAE4 | CYP71B29 | Cytochrome P450 71B29 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRQ1 | CYP89A9 | Cytochrome P450 89A9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZU07 | CYP71B12 | Cytochrome P450 71B12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64636 | CYP76C1 | Cytochrome P450 76C1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q949U1 | CYP79F1 | Dihomomethionine N-hydroxylase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWELVALLLL | TLAYLFWPKR | RCPGAKYPKS | LLSLPLVGSL | PFLPRHGHMH | NNFFKLQKKY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPIYSVRMGT | KTTVIVGHHQ | LAKEVLIKKG | KDFSGRPQMA | TLDIASNNRK | GIAFADSGAH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WQLHRRLAMA | TFALFKDGDQ | KLEKIICQEI | STLCDMLATH | NGQSIDISFP | VFVAVTNVIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LICFNTSYKN | GDPELNVIQN | YNEGIIDNLS | KDSLVDLVPW | LKIFPNKTLE | KLKSHVKIRN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DLLNKILENY | KEKFRSDSIT | NMLDTLMQAK | MNSDNGNAGP | DQDSELLSDN | HILTTIGDIF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GAGVETTTSV | VKWTLAFLLH | NPQVKKKLYE | EIDQNVGFSR | TPTISDRNRL | LLLEATIREV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRLRPVAPML | IPHKANVDSS | IGEFAVDKGT | EVIINLWALH | HNEKEWHQPD | QFMPERFLNP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AGTQLISPSV | SYLPFGAGPR | SCIGEILARQ | ELFLIMAWLL | QRFDLEVPDD | GQLPSLEGIP |
| 490 | 500 | ||||
| KVVFLIDSFK | VKIKVRQAWR | EAQAEGST |