CYP2W1 (cytochrome P450 family 2 subfamily W member 1) - Rat Genome Database

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Gene: CYP2W1 (cytochrome P450 family 2 subfamily W member 1) Homo sapiens
Analyze
Symbol: CYP2W1
Name: cytochrome P450 family 2 subfamily W member 1
RGD ID: 1313076
HGNC Page HGNC:20243
Description: Enables retinoic acid 4-hydroxylase activity and retinoid binding activity. Involved in several processes, including aflatoxin metabolic process; phospholipid metabolic process; and retinoic acid catabolic process. Located in cell surface and endoplasmic reticulum lumen.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CYPIIW1; cytochrome P450 2W1; cytochrome P450, family 2, subfamily W, polypeptide 1; MGC34287
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387983,181 - 989,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7983,181 - 989,640 (+)EnsemblGRCh38hg38GRCh38
GRCh3771,022,817 - 1,029,276 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367989,361 - 995,802 (+)NCBINCBI36Build 36hg18NCBI36
Build 347796,234 - 802,517NCBI
Celera7990,578 - 996,997 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7939,494 - 945,913 (+)NCBIHuRef
CHM1_171,021,926 - 1,028,345 (+)NCBICHM1_1
T2T-CHM13v2.071,088,177 - 1,094,636 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v271,077,465 - 1,083,884 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15128046   PMID:15489334   PMID:16426568   PMID:16551781   PMID:16677611   PMID:17979506   PMID:17998294   PMID:20602611   PMID:20805301   PMID:21873635   PMID:21988832  
PMID:22591743   PMID:22631658   PMID:22993331   PMID:23897914   PMID:24088132   PMID:24625228   PMID:24801906   PMID:25144458   PMID:25735388   PMID:25844926   PMID:26186194   PMID:26683388  
PMID:26787547   PMID:26936974   PMID:27257736   PMID:27307299   PMID:27598485   PMID:28514442   PMID:33961781   PMID:35256949   PMID:35902379  


Genomics

Comparative Map Data
CYP2W1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387983,181 - 989,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7983,181 - 989,640 (+)EnsemblGRCh38hg38GRCh38
GRCh3771,022,817 - 1,029,276 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367989,361 - 995,802 (+)NCBINCBI36Build 36hg18NCBI36
Build 347796,234 - 802,517NCBI
Celera7990,578 - 996,997 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7939,494 - 945,913 (+)NCBIHuRef
CHM1_171,021,926 - 1,028,345 (+)NCBICHM1_1
T2T-CHM13v2.071,088,177 - 1,094,636 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v271,077,465 - 1,083,884 (+)NCBI
Cyp2w1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395139,338,371 - 139,345,362 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5139,338,372 - 139,342,788 (+)EnsemblGRCm39 Ensembl
GRCm385139,352,616 - 139,359,607 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5139,352,617 - 139,357,033 (+)EnsemblGRCm38mm10GRCm38
MGSCv375139,828,571 - 139,832,987 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365139,606,259 - 139,610,675 (+)NCBIMGSCv36mm8
Celera5136,406,834 - 136,411,079 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map578.44NCBI
Cyp2w1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21215,291,552 - 15,296,421 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1215,291,704 - 15,296,421 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01217,382,749 - 17,387,909 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,383,159 - 17,387,879 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01219,367,866 - 19,374,746 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41215,792,480 - 15,797,202 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11215,822,407 - 15,827,127 (-)NCBI
Celera1217,045,261 - 17,050,420 (-)NCBICelera
Cytogenetic Map12q11NCBI
LOC102016571
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554608,705,068 - 8,712,121 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554608,705,068 - 8,711,266 (+)NCBIChiLan1.0ChiLan1.0
CYP2W1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1754,252,914 - 54,259,930 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v071,140,855 - 1,147,788 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.171,353,510 - 1,369,487 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl71,353,510 - 1,362,781 (+)Ensemblpanpan1.1panPan2
CYP2W1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1615,883,248 - 15,889,508 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl615,881,636 - 15,889,186 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha617,354,512 - 17,362,330 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,012,124 - 16,019,942 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,012,367 - 16,019,917 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1615,814,985 - 15,822,771 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0615,741,518 - 15,749,310 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,029,717 - 16,037,535 (-)NCBIUU_Cfam_GSD_1.0
LOC101970215
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344143,793,867 - 143,807,376 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367541,203,017 - 1,208,131 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049367541,203,004 - 1,208,131 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP2W1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3642,471 - 648,909 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13641,997 - 649,313 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23744,864 - 752,709 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CYP2W1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12820,580,272 - 20,592,771 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2820,582,287 - 20,591,497 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660901,103,793 - 1,111,633 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101698313
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474026,544,715 - 26,549,433 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474026,545,725 - 26,551,906 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP2W1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000052253] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 copy number loss See cases [RCV000052254] Chr7:54185..1441125 [GRCh38]
Chr7:54185..1480761 [GRCh37]
Chr7:149268..1447287 [NCBI36]
Chr7:7p22.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 copy number gain See cases [RCV000134140] Chr7:54185..1206119 [GRCh38]
Chr7:54185..1245755 [GRCh37]
Chr7:149268..1212281 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3(chr7:791215-1993065)x3 copy number gain See cases [RCV000136691] Chr7:791215..1993065 [GRCh38]
Chr7:830852..2032700 [GRCh37]
Chr7:797378..1999226 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1331046)x1 copy number loss See cases [RCV000137163] Chr7:54185..1331046 [GRCh38]
Chr7:54185..1370682 [GRCh37]
Chr7:149268..1337208 [NCBI36]
Chr7:7p22.3		 pathogenic|uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:689554-2031521)x3 copy number gain See cases [RCV000138319] Chr7:689554..2031521 [GRCh38]
Chr7:729191..2071156 [GRCh37]
Chr7:695717..2037682 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3(chr7:890905-990730)x3 copy number gain See cases [RCV000140279] Chr7:890905..990730 [GRCh38]
Chr7:930542..1030366 [GRCh37]
Chr7:897068..996892 [NCBI36]
Chr7:7p22.3		 benign
GRCh38/hg38 7p22.3(chr7:896276-1022380)x3 copy number gain See cases [RCV000140941] Chr7:896276..1022380 [GRCh38]
Chr7:935913..1062016 [GRCh37]
Chr7:902439..1028542 [NCBI36]
Chr7:7p22.3		 benign
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 copy number loss See cases [RCV000143341] Chr7:45130..1298050 [GRCh38]
Chr7:45130..1337686 [GRCh37]
Chr7:140213..1304212 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000148193] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:960405-1025934)x3 copy number gain See cases [RCV000446334] Chr7:960405..1025934 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1 copy number loss See cases [RCV000512381] Chr7:43360..2057743 [GRCh37]
Chr7:7p22.3		 likely pathogenic
GRCh37/hg19 7p22.3(chr7:967185-1261141)x3 copy number gain not provided [RCV000682817] Chr7:967185..1261141 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3(chr7:989696-1540461)x3 copy number gain not provided [RCV000682854] Chr7:989696..1540461 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:993173-1130584)x3 copy number gain not provided [RCV000746311] Chr7:993173..1130584 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:993881-1142977)x3 copy number gain not provided [RCV000746312] Chr7:993881..1142977 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:1015129-1034903)x3 copy number gain not provided [RCV000746313] Chr7:1015129..1034903 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:916660-1034717)x3 copy number gain not provided [RCV000746288] Chr7:916660..1034717 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:933420-1034717)x3 copy number gain not provided [RCV000746290] Chr7:933420..1034717 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:933420-1034903)x3 copy number gain not provided [RCV000746291] Chr7:933420..1034903 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:976725-1103697)x1 copy number loss not provided [RCV000746297] Chr7:976725..1103697 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:976925-1102241)x1 copy number loss not provided [RCV000746302] Chr7:976925..1102241 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:976925-1105426)x1 copy number loss not provided [RCV000746303] Chr7:976925..1105426 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:977307-1024581)x1 copy number loss not provided [RCV000746307] Chr7:977307..1024581 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:993173-1034717)x3 copy number gain not provided [RCV000746310] Chr7:993173..1034717 [GRCh37]
Chr7:7p22.3		 benign
NM_017781.3(CYP2W1):c.771G>A (p.Pro257=) single nucleotide variant not provided [RCV000967036] Chr7:986749 [GRCh38]
Chr7:1026385 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_017781.3(CYP2W1):c.983G>A (p.Arg328His) single nucleotide variant not provided [RCV000974226] Chr7:987371 [GRCh38]
Chr7:1027007 [GRCh37]
Chr7:7p22.3		 benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_017781.3(CYP2W1):c.1217A>G (p.Asn406Ser) single nucleotide variant Inborn genetic diseases [RCV003271999] Chr7:988350 [GRCh38]
Chr7:1027986 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:869147-1438686)x1 copy number loss See cases [RCV000790603] Chr7:869147..1438686 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:43360-1648288)x1 copy number loss not provided [RCV001005888] Chr7:43360..1648288 [GRCh37]
Chr7:7p22.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 copy number loss See cases [RCV001007408] Chr7:44935..1750797 [GRCh37]
Chr7:7p22.3		 pathogenic
NM_017781.3(CYP2W1):c.269C>T (p.Ala90Val) single nucleotide variant Inborn genetic diseases [RCV003274819] Chr7:984506 [GRCh38]
Chr7:1024142 [GRCh37]
Chr7:7p22.3		 likely benign
NM_017781.3(CYP2W1):c.190G>C (p.Gly64Arg) single nucleotide variant Inborn genetic diseases [RCV002836561] Chr7:984427 [GRCh38]
Chr7:1024063 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:967185-1781553)x3 copy number gain not provided [RCV001259996] Chr7:967185..1781553 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:989697-2138529)x3 copy number gain not provided [RCV001833076] Chr7:989697..2138529 [GRCh37]
Chr7:7p22.3		 uncertain significance
NC_000007.13:g.(?_193200)_(1498962_?)del deletion not provided [RCV003119969] Chr7:193200..1498962 [GRCh37]
Chr7:7p22.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_017781.3(CYP2W1):c.124G>A (p.Gly42Arg) single nucleotide variant Inborn genetic diseases [RCV003259924] Chr7:983335 [GRCh38]
Chr7:1022971 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1076C>G (p.Thr359Arg) single nucleotide variant Inborn genetic diseases [RCV002773284] Chr7:987464 [GRCh38]
Chr7:1027100 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.751C>T (p.Arg251Trp) single nucleotide variant Inborn genetic diseases [RCV002970119] Chr7:986729 [GRCh38]
Chr7:1026365 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.359C>T (p.Ala120Val) single nucleotide variant Inborn genetic diseases [RCV002970118] Chr7:984971 [GRCh38]
Chr7:1024607 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.851C>A (p.Ala284Asp) single nucleotide variant Inborn genetic diseases [RCV002841200] Chr7:987138 [GRCh38]
Chr7:1026774 [GRCh37]
Chr7:7p22.3		 likely benign
NM_017781.3(CYP2W1):c.343T>A (p.Phe115Ile) single nucleotide variant Inborn genetic diseases [RCV002733314] Chr7:984955 [GRCh38]
Chr7:1024591 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1096C>T (p.Arg366Cys) single nucleotide variant Inborn genetic diseases [RCV002946953] Chr7:987484 [GRCh38]
Chr7:1027120 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1310G>A (p.Arg437His) single nucleotide variant Inborn genetic diseases [RCV002969985] Chr7:988659 [GRCh38]
Chr7:1028295 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.542C>T (p.Ala181Val) single nucleotide variant Inborn genetic diseases [RCV002727411] Chr7:985220 [GRCh38]
Chr7:1024856 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.721C>T (p.Arg241Cys) single nucleotide variant Inborn genetic diseases [RCV002969991] Chr7:986699 [GRCh38]
Chr7:1026335 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.365G>T (p.Trp122Leu) single nucleotide variant Inborn genetic diseases [RCV002782723] Chr7:984977 [GRCh38]
Chr7:1024613 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.807C>G (p.Ile269Met) single nucleotide variant Inborn genetic diseases [RCV002925933] Chr7:986785 [GRCh38]
Chr7:1026421 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.326A>G (p.Gln109Arg) single nucleotide variant Inborn genetic diseases [RCV002768607] Chr7:984563 [GRCh38]
Chr7:1024199 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.208C>T (p.His70Tyr) single nucleotide variant Inborn genetic diseases [RCV002987728] Chr7:984445 [GRCh38]
Chr7:1024081 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1048G>A (p.Val350Met) single nucleotide variant Inborn genetic diseases [RCV002743413] Chr7:987436 [GRCh38]
Chr7:1027072 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.757C>T (p.Pro253Ser) single nucleotide variant Inborn genetic diseases [RCV002665668] Chr7:986735 [GRCh38]
Chr7:1026371 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.89G>A (p.Arg30Gln) single nucleotide variant Inborn genetic diseases [RCV002743689] Chr7:983300 [GRCh38]
Chr7:1022936 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.661C>G (p.Pro221Ala) single nucleotide variant Inborn genetic diseases [RCV002665514] Chr7:986639 [GRCh38]
Chr7:1026275 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.170T>C (p.Met57Thr) single nucleotide variant Inborn genetic diseases [RCV002826238] Chr7:983381 [GRCh38]
Chr7:1023017 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.58G>A (p.Ala20Thr) single nucleotide variant Inborn genetic diseases [RCV002763605] Chr7:983269 [GRCh38]
Chr7:1022905 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1363C>T (p.Arg455Cys) single nucleotide variant Inborn genetic diseases [RCV002986191] Chr7:988712 [GRCh38]
Chr7:1028348 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.599G>C (p.Gly200Ala) single nucleotide variant Inborn genetic diseases [RCV002652251] Chr7:985277 [GRCh38]
Chr7:1024913 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.781G>A (p.Val261Met) single nucleotide variant Inborn genetic diseases [RCV002965403] Chr7:986759 [GRCh38]
Chr7:1026395 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.341T>G (p.Ile114Ser) single nucleotide variant Inborn genetic diseases [RCV002672628] Chr7:984953 [GRCh38]
Chr7:1024589 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.340A>G (p.Ile114Val) single nucleotide variant Inborn genetic diseases [RCV002669531] Chr7:984952 [GRCh38]
Chr7:1024588 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1390C>G (p.Pro464Ala) single nucleotide variant Inborn genetic diseases [RCV002769040] Chr7:988739 [GRCh38]
Chr7:1028375 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.490C>T (p.Arg164Trp) single nucleotide variant Inborn genetic diseases [RCV002747529] Chr7:985168 [GRCh38]
Chr7:1024804 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.691C>T (p.Arg231Trp) single nucleotide variant Inborn genetic diseases [RCV002673573] Chr7:986669 [GRCh38]
Chr7:1026305 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1009C>T (p.Arg337Trp) single nucleotide variant Inborn genetic diseases [RCV002901007] Chr7:987397 [GRCh38]
Chr7:1027033 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.745G>A (p.Glu249Lys) single nucleotide variant Inborn genetic diseases [RCV002656871] Chr7:986723 [GRCh38]
Chr7:1026359 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.964G>A (p.Val322Met) single nucleotide variant Inborn genetic diseases [RCV003210477] Chr7:987352 [GRCh38]
Chr7:1026988 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.412G>A (p.Val138Met) single nucleotide variant Inborn genetic diseases [RCV003179870] Chr7:985024 [GRCh38]
Chr7:1024660 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1259G>C (p.Arg420Pro) single nucleotide variant Inborn genetic diseases [RCV003178371] Chr7:988392 [GRCh38]
Chr7:1028028 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.718G>A (p.Val240Ile) single nucleotide variant Inborn genetic diseases [RCV003174060] Chr7:986696 [GRCh38]
Chr7:1026332 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.518G>C (p.Trp173Ser) single nucleotide variant Inborn genetic diseases [RCV003205560] Chr7:985196 [GRCh38]
Chr7:1024832 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.556C>T (p.Arg186Cys) single nucleotide variant Inborn genetic diseases [RCV003175916] Chr7:985234 [GRCh38]
Chr7:1024870 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.223A>G (p.Lys75Glu) single nucleotide variant Inborn genetic diseases [RCV003213292] Chr7:984460 [GRCh38]
Chr7:1024096 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.1237G>A (p.Ala413Thr) single nucleotide variant Inborn genetic diseases [RCV003351368] Chr7:988370 [GRCh38]
Chr7:1028006 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_017781.3(CYP2W1):c.836G>T (p.Gly279Val) single nucleotide variant Inborn genetic diseases [RCV003349430] Chr7:987123 [GRCh38]
Chr7:1026759 [GRCh37]
Chr7:7p22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2701
Count of miRNA genes:780
Interacting mature miRNAs:919
Transcripts:ENST00000308919, ENST00000340150, ENST00000415893, ENST00000462453, ENST00000468456
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 72 1 244 5 5 5 1200 1 353 9 77 18 779
Low 594 30 291 145 393 70 755 30 430 81 937 174 81 31 499 4
Below cutoff 1679 2020 1114 419 862 337 1917 1599 2502 258 411 1312 89 982 1145 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000308919   ⟹   ENSP00000310149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7983,181 - 989,640 (+)Ensembl
RefSeq Acc Id: ENST00000340150   ⟹   ENSP00000344178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7983,358 - 989,640 (+)Ensembl
RefSeq Acc Id: ENST00000415893   ⟹   ENSP00000392581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7986,657 - 988,804 (+)Ensembl
RefSeq Acc Id: ENST00000462453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7986,401 - 987,275 (+)Ensembl
RefSeq Acc Id: ENST00000468456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7986,414 - 987,380 (+)Ensembl
RefSeq Acc Id: NM_017781   ⟹   NP_060251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387983,181 - 989,640 (+)NCBI
GRCh3771,020,100 - 1,029,276 (+)NCBI
Build 367989,361 - 995,802 (+)NCBI Archive
Celera7990,578 - 996,997 (+)RGD
HuRef7939,494 - 945,913 (+)RGD
CHM1_171,021,926 - 1,028,345 (+)NCBI
T2T-CHM13v2.071,088,177 - 1,094,636 (+)NCBI
CRA_TCAGchr7v271,077,465 - 1,083,884 (+)RGD
Sequence:
RefSeq Acc Id: XM_011515440   ⟹   XP_011513742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387983,181 - 989,640 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515441   ⟹   XP_011513743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387983,181 - 989,640 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358534   ⟹   XP_054214509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.071,088,177 - 1,094,612 (+)NCBI
RefSeq Acc Id: XM_054358535   ⟹   XP_054214510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.071,088,177 - 1,094,357 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060251   ⟸   NM_017781
- Peptide Label: precursor
- UniProtKB: Q8TAV3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513743   ⟸   XM_011515441
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513742   ⟸   XM_011515440
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000310149   ⟸   ENST00000308919
RefSeq Acc Id: ENSP00000392581   ⟸   ENST00000415893
RefSeq Acc Id: ENSP00000344178   ⟸   ENST00000340150
RefSeq Acc Id: XP_054214509   ⟸   XM_054358534
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214510   ⟸   XM_054358535
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAV3-F1-model_v2 AlphaFold Q8TAV3 1-490 view protein structure

Promoters
RGD ID:7209769
Promoter ID:EPDNEW_H10630
Type:multiple initiation site
Name:CYP2W1_1
Description:cytochrome P450 family 2 subfamily W member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387983,181 - 983,241EPDNEW
RGD ID:6805420
Promoter ID:HG_KWN:55944
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_017781,   UC003SJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367988,311 - 988,811 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20243 AgrOrtholog
COSMIC CYP2W1 COSMIC
Ensembl Genes ENSG00000073067 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000308919 ENTREZGENE
  ENST00000308919.12 UniProtKB/Swiss-Prot
  ENST00000340150.10 UniProtKB/TrEMBL
  ENST00000415893.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073067 GTEx
HGNC ID HGNC:20243 ENTREZGENE
Human Proteome Map CYP2W1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54905 UniProtKB/Swiss-Prot
NCBI Gene 54905 ENTREZGENE
OMIM 615967 OMIM
PANTHER CYTOCHROME P450 2W1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 508A4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYP2W1 RGD, PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NJ10_HUMAN UniProtKB/TrEMBL
  CP2W1_HUMAN UniProtKB/Swiss-Prot
  H7C015_HUMAN UniProtKB/TrEMBL
  Q8TAV3 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP2W1  cytochrome P450 family 2 subfamily W member 1  CYP2W1  cytochrome P450, family 2, subfamily W, polypeptide 1  Symbol and/or name change 5135510 APPROVED