OPN3 (opsin 3) - Rat Genome Database

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Gene: OPN3 (opsin 3) Homo sapiens
Analyze
Symbol: OPN3 (Ensembl: CHML)
Name: opsin 3 (Ensembl:CHM like Rab escort protein)
RGD ID: 1345705
HGNC Page HGNC:14007
Description: Enables 11-cis retinal binding activity and all-trans retinal binding activity. Involved in several processes, including cellular response to UV-A; keratinocyte differentiation; and regulation of melanin biosynthetic process. Located in cytoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECPN; encephalopsin; opsin 3 (encephalopsin, panopsin); opsin-3; PPP1R116
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,593,124 - 241,640,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,628,851 - 241,640,369 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,590,102 - 241,677,376 (-)EnsemblGRCh38hg38GRCh38
GRCh371241,756,426 - 241,803,671 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,823,075 - 239,870,324 (-)NCBINCBI36Build 36hg18NCBI36
Build 341238,082,955 - 238,129,652NCBI
Celera1215,011,455 - 215,058,805 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,214,768 - 212,261,760 (-)NCBIHuRef
CHM1_11243,029,126 - 243,076,370 (-)NCBICHM1_1
T2T-CHM13v2.01241,004,525 - 241,051,843 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8889548   PMID:10234000   PMID:11401433   PMID:12063405   PMID:12242008   PMID:12477932   PMID:14623461   PMID:15489334   PMID:16710414   PMID:18240029   PMID:18344558   PMID:19626040  
PMID:21873635   PMID:22313545   PMID:26186194   PMID:28514442   PMID:28842328   PMID:29117863   PMID:30168605   PMID:30284927   PMID:31097585   PMID:31380578   PMID:31653550   PMID:31730232  
PMID:31802643   PMID:32166706   PMID:33611338   PMID:33845483   PMID:33955704   PMID:33961781   PMID:34029574   PMID:35337019   PMID:35577105   PMID:36017595   PMID:36869204   PMID:37823488  
PMID:38284195   PMID:38548258  


Genomics

Comparative Map Data
OPN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,593,124 - 241,640,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,628,851 - 241,640,369 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,590,102 - 241,677,376 (-)EnsemblGRCh38hg38GRCh38
GRCh371241,756,426 - 241,803,671 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,823,075 - 239,870,324 (-)NCBINCBI36Build 36hg18NCBI36
Build 341238,082,955 - 238,129,652NCBI
Celera1215,011,455 - 215,058,805 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,214,768 - 212,261,760 (-)NCBIHuRef
CHM1_11243,029,126 - 243,076,370 (-)NCBICHM1_1
T2T-CHM13v2.01241,004,525 - 241,051,843 (-)NCBIT2T-CHM13v2.0
Opn3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,489,993 - 175,520,198 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,489,987 - 175,520,342 (-)EnsemblGRCm39 Ensembl
GRCm381175,662,421 - 175,692,901 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,662,421 - 175,692,776 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,592,558 - 177,622,721 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,499,102 - 177,529,265 (-)NCBIMGSCv36mm8
Celera1182,748,089 - 182,778,248 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.66NCBI
Opn3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,121,560 - 90,152,076 (-)NCBIGRCr8
mRatBN7.21387,589,333 - 87,619,847 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,589,333 - 87,619,847 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1390,089,224 - 90,119,705 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,489,484 - 91,519,964 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,668,631 - 88,699,112 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01393,716,481 - 93,746,994 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,716,481 - 93,746,994 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,180,840 - 98,211,263 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,396,311 - 91,427,005 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1387,187,867 - 87,218,156 (-)NCBICelera
Cytogenetic Map13q24NCBI
Opn3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,450,768 - 10,493,958 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540610,450,810 - 10,493,958 (+)NCBIChiLan1.0ChiLan1.0
OPN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v217,506,682 - 7,553,372 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117,730,302 - 7,777,306 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,155,765 - 217,202,577 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,136,416 - 222,218,839 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,136,422 - 222,184,598 (-)Ensemblpanpan1.1panPan2
OPN3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1732,995,047 - 33,040,873 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl732,996,938 - 33,040,876 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,468,970 - 32,518,427 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0732,817,978 - 32,867,661 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl732,823,417 - 32,867,883 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1732,652,968 - 32,702,181 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0732,677,092 - 32,726,558 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0732,925,094 - 32,974,549 (-)NCBIUU_Cfam_GSD_1.0
Opn3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,872,261 - 45,913,815 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365268,833,455 - 8,876,729 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365268,833,495 - 8,876,631 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OPN3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,671,900 - 78,720,697 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,671,600 - 78,719,139 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605580,804,584 - 80,852,534 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Opn3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477111,943,914 - 11,991,411 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477111,943,894 - 11,991,477 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OPN3
79 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:241358731-241676967)x3 copy number gain See cases [RCV000051589] Chr1:241358731..241676967 [GRCh38]
Chr1:241522031..241840269 [GRCh37]
Chr1:239588654..239906892 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
NM_014322.2(OPN3):c.1198C>T (p.Arg400Cys) single nucleotide variant Malignant melanoma [RCV000064611] Chr1:241594439 [GRCh38]
Chr1:241757741 [GRCh37]
Chr1:239824364 [NCBI36]
Chr1:1q43
not provided
NM_001821.3(CHML):c.1127T>G (p.Leu376Ter) single nucleotide variant Malignant melanoma [RCV000060123] Chr1:241634640 [GRCh38]
Chr1:241797942 [GRCh37]
Chr1:239864565 [NCBI36]
Chr1:1q43
not provided
NM_001821.3(CHML):c.984T>A (p.Thr328=) single nucleotide variant Malignant melanoma [RCV000060124] Chr1:241634783 [GRCh38]
Chr1:241798085 [GRCh37]
Chr1:239864708 [NCBI36]
Chr1:1q43
not provided
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001381853.1(CHML):c.137A>G (p.Asn46Ser) single nucleotide variant not specified [RCV004322466] Chr1:241635630 [GRCh38]
Chr1:241798932 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.899T>G (p.Phe300Cys) single nucleotide variant not specified [RCV004300042] Chr1:241634868 [GRCh38]
Chr1:241798170 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
NM_014322.3(OPN3):c.276C>T (p.Leu92=) single nucleotide variant not provided [RCV000927120] Chr1:241639979 [GRCh38]
Chr1:241803281 [GRCh37]
Chr1:1q43
likely benign
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
pathogenic
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43
pathogenic
NM_001381853.1(CHML):c.637A>G (p.Ile213Val) single nucleotide variant not specified [RCV004302359] Chr1:241635130 [GRCh38]
Chr1:241798432 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q43(chr1:241499877-241885359)x3 copy number gain not provided [RCV000848301] Chr1:241499877..241885359 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
NM_014322.3(OPN3):c.600C>A (p.Ser200=) single nucleotide variant not provided [RCV000916837] Chr1:241604353 [GRCh38]
Chr1:241767655 [GRCh37]
Chr1:1q43
likely benign
NM_014322.3(OPN3):c.240G>C (p.Leu80=) single nucleotide variant not provided [RCV000955897] Chr1:241640015 [GRCh38]
Chr1:241803317 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:241680265-241929583)x3 copy number gain not provided [RCV001005200] Chr1:241680265..241929583 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q43(chr1:241496526-241885359)x3 copy number gain not provided [RCV001259121] Chr1:241496526..241885359 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain Autism [RCV002284315] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q43(chr1:241180373-242090901) copy number gain not specified [RCV002052989] Chr1:241180373..242090901 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV004584128] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44
uncertain significance
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_014322.3(OPN3):c.166G>T (p.Val56Phe) single nucleotide variant not specified [RCV004330974] Chr1:241640089 [GRCh38]
Chr1:241803391 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
NM_001381853.1(CHML):c.788C>T (p.Thr263Ile) single nucleotide variant not specified [RCV004076943] Chr1:241634979 [GRCh38]
Chr1:241798281 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.553G>A (p.Gly185Arg) single nucleotide variant not specified [RCV004106275] Chr1:241604400 [GRCh38]
Chr1:241767702 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.100C>T (p.Pro34Ser) single nucleotide variant not specified [RCV004216569] Chr1:241640155 [GRCh38]
Chr1:241803457 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1015G>A (p.Val339Ile) single nucleotide variant not specified [RCV004139739] Chr1:241634752 [GRCh38]
Chr1:241798054 [GRCh37]
Chr1:1q43
likely benign
NM_014322.3(OPN3):c.400G>A (p.Val134Met) single nucleotide variant not specified [RCV004084757] Chr1:241604553 [GRCh38]
Chr1:241767855 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.842G>C (p.Gly281Ala) single nucleotide variant not specified [RCV004160506] Chr1:241597849 [GRCh38]
Chr1:241761151 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241094653-242087176)x3 copy number gain not provided [RCV002475661] Chr1:241094653..242087176 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_014322.3(OPN3):c.874A>G (p.Ile292Val) single nucleotide variant not specified [RCV004224172] Chr1:241597817 [GRCh38]
Chr1:241761119 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.40A>G (p.Ile14Val) single nucleotide variant not specified [RCV004204446] Chr1:241635727 [GRCh38]
Chr1:241799029 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.590A>T (p.Asp197Val) single nucleotide variant not specified [RCV004242808] Chr1:241635177 [GRCh38]
Chr1:241798479 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg) single nucleotide variant not specified [RCV004102645] Chr1:241634268 [GRCh38]
Chr1:241797570 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.313G>A (p.Ala105Thr) single nucleotide variant not specified [RCV004114380] Chr1:241635454 [GRCh38]
Chr1:241798756 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.289T>C (p.Phe97Leu) single nucleotide variant not specified [RCV004167649] Chr1:241639966 [GRCh38]
Chr1:241803268 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.494C>T (p.Ser165Leu) single nucleotide variant not specified [RCV004199726] Chr1:241604459 [GRCh38]
Chr1:241767761 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1052G>A (p.Cys351Tyr) single nucleotide variant not specified [RCV004220770] Chr1:241634715 [GRCh38]
Chr1:241798017 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.569T>C (p.Val190Ala) single nucleotide variant not specified [RCV004172290] Chr1:241604384 [GRCh38]
Chr1:241767686 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1087T>G (p.Phe363Val) single nucleotide variant not specified [RCV004224270] Chr1:241634680 [GRCh38]
Chr1:241797982 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.52G>A (p.Ala18Thr) single nucleotide variant not specified [RCV004228455] Chr1:241640203 [GRCh38]
Chr1:241803505 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1384G>C (p.Asp462His) single nucleotide variant not specified [RCV004182123] Chr1:241634383 [GRCh38]
Chr1:241797685 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.542T>C (p.Leu181Pro) single nucleotide variant not specified [RCV004122232] Chr1:241604411 [GRCh38]
Chr1:241767713 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43
not provided
NM_014322.3(OPN3):c.229C>T (p.His77Tyr) single nucleotide variant not specified [RCV004201618] Chr1:241640026 [GRCh38]
Chr1:241803328 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.226A>G (p.Thr76Ala) single nucleotide variant not specified [RCV004122195] Chr1:241640029 [GRCh38]
Chr1:241803331 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.869T>C (p.Ile290Thr) single nucleotide variant not specified [RCV004188971] Chr1:241597822 [GRCh38]
Chr1:241761124 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.314C>T (p.Ala105Val) single nucleotide variant not specified [RCV004172549] Chr1:241635453 [GRCh38]
Chr1:241798755 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1595C>T (p.Pro532Leu) single nucleotide variant not specified [RCV004223942] Chr1:241634172 [GRCh38]
Chr1:241797474 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1469G>A (p.Arg490Gln) single nucleotide variant not specified [RCV004083361] Chr1:241634298 [GRCh38]
Chr1:241797600 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.470C>T (p.Ala157Val) single nucleotide variant not specified [RCV004313323] Chr1:241604483 [GRCh38]
Chr1:241767785 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1408T>A (p.Leu470Ile) single nucleotide variant not specified [RCV004281179] Chr1:241634359 [GRCh38]
Chr1:241797661 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1679C>T (p.Ser560Leu) single nucleotide variant not specified [RCV004261197] Chr1:241634088 [GRCh38]
Chr1:241797390 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.848G>T (p.Gly283Val) single nucleotide variant not specified [RCV004261268] Chr1:241597843 [GRCh38]
Chr1:241761145 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.247A>T (p.Ile83Phe) single nucleotide variant not specified [RCV004269179] Chr1:241640008 [GRCh38]
Chr1:241803310 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.128G>A (p.Arg43His) single nucleotide variant not specified [RCV004250546] Chr1:241640127 [GRCh38]
Chr1:241803429 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1841A>G (p.Glu614Gly) single nucleotide variant not specified [RCV004267696] Chr1:241633926 [GRCh38]
Chr1:241797228 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1163G>T (p.Gly388Val) single nucleotide variant not specified [RCV004322134] Chr1:241634604 [GRCh38]
Chr1:241797906 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.211C>T (p.Arg71Trp) single nucleotide variant not specified [RCV004283365] Chr1:241640044 [GRCh38]
Chr1:241803346 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1484G>C (p.Cys495Ser) single nucleotide variant not specified [RCV004277761] Chr1:241634283 [GRCh38]
Chr1:241797585 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.533A>C (p.Lys178Thr) single nucleotide variant not specified [RCV004249094] Chr1:241635234 [GRCh38]
Chr1:241798536 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.197A>G (p.Asn66Ser) single nucleotide variant not specified [RCV004275159] Chr1:241635570 [GRCh38]
Chr1:241798872 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.1441C>G (p.Pro481Ala) single nucleotide variant not specified [RCV004324904] Chr1:241634326 [GRCh38]
Chr1:241797628 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
NM_001381853.1(CHML):c.269G>A (p.Arg90His) single nucleotide variant not specified [RCV004344738] Chr1:241635498 [GRCh38]
Chr1:241798800 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.284C>G (p.Thr95Ser) single nucleotide variant not specified [RCV004343124] Chr1:241635483 [GRCh38]
Chr1:241798785 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44
pathogenic
NM_014322.3(OPN3):c.950G>A (p.Arg317Gln) single nucleotide variant not provided [RCV003415079] Chr1:241594687 [GRCh38]
Chr1:241757989 [GRCh37]
Chr1:1q43
likely benign
NM_014322.3(OPN3):c.533G>C (p.Arg178Thr) single nucleotide variant not provided [RCV003415080] Chr1:241604420 [GRCh38]
Chr1:241767722 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43(chr1:239786185-242208644)x1 copy number loss not specified [RCV003986406] Chr1:239786185..242208644 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
NM_001381853.1(CHML):c.1010A>G (p.His337Arg) single nucleotide variant not specified [RCV004439283] Chr1:241634757 [GRCh38]
Chr1:241798059 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1234G>A (p.Asp412Asn) single nucleotide variant not specified [RCV004439285] Chr1:241634533 [GRCh38]
Chr1:241797835 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004439292] Chr1:241635762 [GRCh38]
Chr1:241799064 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1057A>G (p.Thr353Ala) single nucleotide variant not specified [RCV004439284] Chr1:241634710 [GRCh38]
Chr1:241798012 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1774C>A (p.Gln592Lys) single nucleotide variant not specified [RCV004439289] Chr1:241633993 [GRCh38]
Chr1:241797295 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.337G>A (p.Val113Ile) single nucleotide variant not specified [RCV004439290] Chr1:241635430 [GRCh38]
Chr1:241798732 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.1434A>G (p.Ile478Met) single nucleotide variant not specified [RCV004439286] Chr1:241634333 [GRCh38]
Chr1:241797635 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1472T>A (p.Val491Asp) single nucleotide variant not specified [RCV004439287] Chr1:241634295 [GRCh38]
Chr1:241797597 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1508A>C (p.Lys503Thr) single nucleotide variant not specified [RCV004439288] Chr1:241634259 [GRCh38]
Chr1:241797561 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.466A>G (p.Lys156Glu) single nucleotide variant not specified [RCV004439291] Chr1:241635301 [GRCh38]
Chr1:241798603 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.343G>T (p.Val115Leu) single nucleotide variant not specified [RCV004499286] Chr1:241639912 [GRCh38]
Chr1:241803214 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.662G>A (p.Cys221Tyr) single nucleotide variant not specified [RCV004499289] Chr1:241604291 [GRCh38]
Chr1:241767593 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.896A>T (p.Lys299Ile) single nucleotide variant not specified [RCV004499290] Chr1:241597795 [GRCh38]
Chr1:241761097 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.436G>T (p.Ala146Ser) single nucleotide variant not specified [RCV004499287] Chr1:241604517 [GRCh38]
Chr1:241767819 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.280G>C (p.Gly94Arg) single nucleotide variant not specified [RCV004499284] Chr1:241639975 [GRCh38]
Chr1:241803277 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.595G>A (p.Asp199Asn) single nucleotide variant not specified [RCV004499288] Chr1:241604358 [GRCh38]
Chr1:241767660 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr) single nucleotide variant not specified [RCV004610379] Chr1:241634400 [GRCh38]
Chr1:241797702 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1208G>A (p.Arg403His) single nucleotide variant not specified [RCV004610376] Chr1:241634559 [GRCh38]
Chr1:241797861 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)del deletion not provided [RCV004579203] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44
uncertain significance
NM_014322.3(OPN3):c.52G>T (p.Ala18Ser) single nucleotide variant not specified [RCV004655201] Chr1:241640203 [GRCh38]
Chr1:241803505 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.1051G>C (p.Val351Leu) single nucleotide variant not specified [RCV004646163] Chr1:241594586 [GRCh38]
Chr1:241757888 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.934A>G (p.Met312Val) single nucleotide variant not specified [RCV004655200] Chr1:241597757 [GRCh38]
Chr1:241761059 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV004610375] Chr1:241634961 [GRCh38]
Chr1:241798263 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.782A>C (p.Asn261Thr) single nucleotide variant not specified [RCV004610377] Chr1:241634985 [GRCh38]
Chr1:241798287 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1102G>A (p.Gly368Arg) single nucleotide variant not specified [RCV004610374] Chr1:241634665 [GRCh38]
Chr1:241797967 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1244C>T (p.Ser415Phe) single nucleotide variant not specified [RCV004610380] Chr1:241634523 [GRCh38]
Chr1:241797825 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.293C>T (p.Thr98Ile) single nucleotide variant not specified [RCV004655202] Chr1:241639962 [GRCh38]
Chr1:241803264 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.980G>A (p.Arg327Gln) single nucleotide variant not specified [RCV004838314] Chr1:241594657 [GRCh38]
Chr1:241757959 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.248T>G (p.Ile83Ser) single nucleotide variant not specified [RCV004834971] Chr1:241640007 [GRCh38]
Chr1:241803309 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3 copy number gain not provided [RCV004819298] Chr1:228803269..243112182 [GRCh37]
Chr1:1q42.13-43
pathogenic
NM_014322.3(OPN3):c.589G>A (p.Ala197Thr) single nucleotide variant not specified [RCV004838312] Chr1:241604364 [GRCh38]
Chr1:241767666 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.698G>A (p.Arg233His) single nucleotide variant not specified [RCV004838310] Chr1:241597993 [GRCh38]
Chr1:241761295 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.733A>G (p.Lys245Glu) single nucleotide variant not specified [RCV004838311] Chr1:241597958 [GRCh38]
Chr1:241761260 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.151A>T (p.Ile51Phe) single nucleotide variant not specified [RCV004838313] Chr1:241640104 [GRCh38]
Chr1:241803406 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.701G>A (p.Cys234Tyr) single nucleotide variant not specified [RCV004838309] Chr1:241597990 [GRCh38]
Chr1:241761292 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.1034T>G (p.Met345Arg) single nucleotide variant not specified [RCV004838315] Chr1:241594603 [GRCh38]
Chr1:241757905 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.977T>G (p.Leu326Arg) single nucleotide variant not specified [RCV004838316] Chr1:241594660 [GRCh38]
Chr1:241757962 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.305G>T (p.Cys102Phe) single nucleotide variant not specified [RCV004838317] Chr1:241639950 [GRCh38]
Chr1:241803252 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1445C>T (p.Ala482Val) single nucleotide variant not specified [RCV004896766] Chr1:241634322 [GRCh38]
Chr1:241797624 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.553A>G (p.Lys185Glu) single nucleotide variant not specified [RCV004896767] Chr1:241635214 [GRCh38]
Chr1:241798516 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1960C>T (p.Leu654Phe) single nucleotide variant not specified [RCV004896783] Chr1:241633807 [GRCh38]
Chr1:241797109 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1733C>T (p.Ser578Phe) single nucleotide variant not specified [RCV004896784] Chr1:241634034 [GRCh38]
Chr1:241797336 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1081A>G (p.Lys361Glu) single nucleotide variant not specified [RCV004896785] Chr1:241634686 [GRCh38]
Chr1:241797988 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1534T>C (p.Cys512Arg) single nucleotide variant not specified [RCV004896786] Chr1:241634233 [GRCh38]
Chr1:241797535 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.755A>G (p.Asp252Gly) single nucleotide variant not specified [RCV004896787] Chr1:241635012 [GRCh38]
Chr1:241798314 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.745A>G (p.Ile249Val) single nucleotide variant not specified [RCV004896788] Chr1:241635022 [GRCh38]
Chr1:241798324 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1900G>A (p.Val634Ile) single nucleotide variant not specified [RCV004896773] Chr1:241633867 [GRCh38]
Chr1:241797169 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.1612A>G (p.Ile538Val) single nucleotide variant not specified [RCV004896769] Chr1:241634155 [GRCh38]
Chr1:241797457 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.451G>A (p.Asp151Asn) single nucleotide variant not specified [RCV004896770] Chr1:241635316 [GRCh38]
Chr1:241798618 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1618G>A (p.Glu540Lys) single nucleotide variant not specified [RCV004896771] Chr1:241634149 [GRCh38]
Chr1:241797451 [GRCh37]
Chr1:1q43
likely benign
NM_001381853.1(CHML):c.1033A>G (p.Met345Val) single nucleotide variant not specified [RCV004896772] Chr1:241634734 [GRCh38]
Chr1:241798036 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1207C>T (p.Arg403Cys) single nucleotide variant not specified [RCV004896774] Chr1:241634560 [GRCh38]
Chr1:241797862 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.454G>A (p.Glu152Lys) single nucleotide variant not specified [RCV004896775] Chr1:241635313 [GRCh38]
Chr1:241798615 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1393A>G (p.Ile465Val) single nucleotide variant not specified [RCV004896776] Chr1:241634374 [GRCh38]
Chr1:241797676 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1213A>G (p.Lys405Glu) single nucleotide variant not specified [RCV004896777] Chr1:241634554 [GRCh38]
Chr1:241797856 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.203T>C (p.Ile68Thr) single nucleotide variant not specified [RCV004896779] Chr1:241635564 [GRCh38]
Chr1:241798866 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.427A>G (p.Ser143Gly) single nucleotide variant not specified [RCV004896780] Chr1:241635340 [GRCh38]
Chr1:241798642 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.76G>C (p.Ala26Pro) single nucleotide variant not specified [RCV004896781] Chr1:241635691 [GRCh38]
Chr1:241798993 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1517A>G (p.Tyr506Cys) single nucleotide variant not specified [RCV004896782] Chr1:241634250 [GRCh38]
Chr1:241797552 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.580A>G (p.Lys194Glu) single nucleotide variant not specified [RCV004896790] Chr1:241635187 [GRCh38]
Chr1:241798489 [GRCh37]
Chr1:1q43
uncertain significance
NM_001381853.1(CHML):c.1340C>T (p.Ser447Leu) single nucleotide variant not specified [RCV004896791] Chr1:241634427 [GRCh38]
Chr1:241797729 [GRCh37]
Chr1:1q43
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1512
Count of miRNA genes:582
Interacting mature miRNAs:639
Transcripts:ENST00000331838, ENST00000366554, ENST00000462265, ENST00000463155, ENST00000469376, ENST00000478849, ENST00000490673
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406974881GWAS623857_Hfemale fertility, fertility measurement QTL GWAS623857 (human)0.000006female fertility, fertility measurementreproduction measurement (CMO:0000389)1241610984241610985Human
597416671GWAS1512745_Hlymphocyte count QTL GWAS1512745 (human)2e-08lymphocyte countblood lymphocyte count (CMO:0000031)1241630922241630923Human
597204431GWAS1300505_Hsmoking status measurement, pancreatic carcinoma QTL GWAS1300505 (human)0.000002smoking status measurement, pancreatic carcinoma1241609725241609726Human
597183013GWAS1279087_Hprotein measurement QTL GWAS1279087 (human)2e-49protein measurement1241632982241632983Human

Markers in Region
SHGC-76600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,984 - 241,757,171UniSTSGRCh37
Build 361239,823,607 - 239,823,794RGDNCBI36
Celera1215,011,987 - 215,012,174RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,300 - 212,215,487UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
RH99149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,670 - 241,796,819UniSTSGRCh37
Build 361239,863,293 - 239,863,442RGDNCBI36
Celera1215,051,773 - 215,051,922RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,728 - 212,254,877UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
AL033675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,788,127 - 241,788,308UniSTSGRCh37
Build 361239,854,750 - 239,854,931RGDNCBI36
Celera1215,043,230 - 215,043,411RGD
Cytogenetic Map1q43UniSTS
HuRef1212,246,185 - 212,246,366UniSTS
SHGC-106687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,867 - 241,797,140UniSTSGRCh37
Build 361239,863,490 - 239,863,763RGDNCBI36
Celera1215,051,970 - 215,052,243RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,925 - 212,255,198UniSTS
TNG Radiation Hybrid Map1122274.0UniSTS
SHGC-76595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,943 - 241,797,099UniSTSGRCh37
Build 361239,863,566 - 239,863,722RGDNCBI36
Celera1215,052,046 - 215,052,202RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,255,001 - 212,255,157UniSTS
TNG Radiation Hybrid Map1122270.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
SHGC-12642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,934 - 241,797,084UniSTSGRCh37
Build 361239,863,557 - 239,863,707RGDNCBI36
Celera1215,052,037 - 215,052,187RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,992 - 212,255,142UniSTS
GeneMap99-G3 RH Map19354.0UniSTS
SHGC-76603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,959 - 241,757,182UniSTSGRCh37
Build 361239,823,582 - 239,823,805RGDNCBI36
Celera1215,011,962 - 215,012,185RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,275 - 212,215,498UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
SHGC-33718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,760,320 - 241,760,452UniSTSGRCh37
Build 361239,826,943 - 239,827,075RGDNCBI36
Celera1215,015,323 - 215,015,455RGD
Cytogenetic Map1q43UniSTS
HuRef1212,218,635 - 212,218,767UniSTS
Stanford-G3 RH Map19384.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
GeneMap99-G3 RH Map19354.0UniSTS
D1S3591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,534 - 241,756,668UniSTSGRCh37
Build 361239,823,157 - 239,823,291RGDNCBI36
Celera1215,011,537 - 215,011,671RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,214,850 - 212,214,984UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1752.34UniSTS
NCBI RH Map11969.9UniSTS
SHGC-76597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,779 - 241,758,908UniSTSGRCh37
Build 361239,825,402 - 239,825,531RGDNCBI36
Celera1215,013,782 - 215,013,911RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,217,095 - 212,217,224UniSTS
TNG Radiation Hybrid Map1122242.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
SHGC-76599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,792,448 - 241,792,567UniSTSGRCh37
Build 361239,859,071 - 239,859,190RGDNCBI36
Celera1215,047,551 - 215,047,670RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,250,506 - 212,250,625UniSTS
TNG Radiation Hybrid Map1122266.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
99-1638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,775,157 - 241,775,772UniSTSGRCh37
Build 361239,841,780 - 239,842,395RGDNCBI36
Celera1215,030,171 - 215,030,786RGD
Cytogenetic Map1q43UniSTS
HuRef1212,233,127 - 212,233,742UniSTS
KMO__6342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,184 - 241,759,045UniSTSGRCh37
Build 361239,824,807 - 239,825,668RGDNCBI36
Celera1215,013,187 - 215,014,048RGD
HuRef1212,216,500 - 212,217,361UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2249 4973 1725 2350 6 624 1951 465 2270 7300 6468 53 3733 1 850 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001381855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF140242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF303588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF482426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM679966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366554   ⟹   ENSP00000355512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,593,124 - 241,640,369 (-)Ensembl
Ensembl Acc Id: ENST00000462265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,590,102 - 241,601,178 (-)Ensembl
Ensembl Acc Id: ENST00000463155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,594,212 - 241,677,376 (-)Ensembl
Ensembl Acc Id: ENST00000469376   ⟹   ENSP00000490012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,593,602 - 241,640,340 (-)Ensembl
Ensembl Acc Id: ENST00000478849   ⟹   ENSP00000490089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,594,598 - 241,640,210 (-)Ensembl
Ensembl Acc Id: ENST00000490673   ⟹   ENSP00000490178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,593,602 - 241,640,355 (-)Ensembl
Ensembl Acc Id: ENST00000635737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,597,763 - 241,601,178 (-)Ensembl
RefSeq Acc Id: NM_001381855   ⟹   NP_001368784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,628,851 - 241,640,369 (-)NCBI
T2T-CHM13v2.01241,040,328 - 241,051,843 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381856   ⟹   NP_001368785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,628,851 - 241,640,369 (-)NCBI
T2T-CHM13v2.01241,040,328 - 241,051,843 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014322   ⟹   NP_055137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,593,124 - 241,640,369 (-)NCBI
GRCh371241,756,452 - 241,803,701 (-)RGD
Build 361239,823,075 - 239,870,324 (-)NCBI Archive
Celera1215,011,455 - 215,058,805 (-)RGD
HuRef1212,214,768 - 212,261,760 (-)RGD
CHM1_11243,029,126 - 243,076,370 (-)NCBI
T2T-CHM13v2.01241,004,525 - 241,051,843 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055137   ⟸   NM_014322
- Peptide Label: isoform 1
- UniProtKB: Q8IX08 (UniProtKB/Swiss-Prot),   Q9Y344 (UniProtKB/Swiss-Prot),   Q9H1Y3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001368784   ⟸   NM_001381855
- Peptide Label: isoform 2
- UniProtKB: A0A1B0GVA4 (UniProtKB/TrEMBL),   Q6GMT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001368785   ⟸   NM_001381856
- Peptide Label: isoform 3
- UniProtKB: A0A1B0GVX9 (UniProtKB/TrEMBL),   Q6GMT1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000490089   ⟸   ENST00000478849
Ensembl Acc Id: ENSP00000490178   ⟸   ENST00000490673
Ensembl Acc Id: ENSP00000490012   ⟸   ENST00000469376
Ensembl Acc Id: ENSP00000355512   ⟸   ENST00000366554
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H1Y3-F1-model_v2 AlphaFold Q9H1Y3 1-402 view protein structure

Promoters
RGD ID:6786171
Promoter ID:HG_KWN:8060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000099266
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,830,416 - 239,830,916 (-)MPROMDB
RGD ID:6809647
Promoter ID:HG_ACW:6493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OPN3ANDCHML.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,869,256 - 239,869,756 (-)MPROMDB
RGD ID:6786169
Promoter ID:HG_KWN:8061
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000331838,   OTTHUMT00000095713,   OTTHUMT00000095716,   UC001HZB.1,   UC001HZC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,870,161 - 239,871,267 (-)MPROMDB
RGD ID:6859400
Promoter ID:EPDNEW_H2865
Type:initiation region
Name:OPN3_1
Description:opsin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,640,369 - 241,640,429EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14007 AgrOrtholog
COSMIC OPN3 COSMIC
Ensembl Genes ENSG00000054277 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000203668 Ensembl
Ensembl Transcript ENST00000366554 ENTREZGENE
  ENST00000366554.3 UniProtKB/Swiss-Prot
  ENST00000469376.5 UniProtKB/TrEMBL
  ENST00000478849.1 UniProtKB/TrEMBL
  ENST00000490673.5 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000054277 GTEx
  ENSG00000203668 GTEx
HGNC ID HGNC:14007 ENTREZGENE
Human Proteome Map OPN3 Human Proteome Map
InterPro GPCR_opsins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Retinal_BS UniProtKB/Swiss-Prot
KEGG Report hsa:23596 UniProtKB/Swiss-Prot
NCBI Gene 23596 ENTREZGENE
OMIM 606695 OMIM
PANTHER OPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31939 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OPSIN UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUF8_HUMAN UniProtKB/TrEMBL
  A0A1B0GVA4 ENTREZGENE
  A0A1B0GVX9 ENTREZGENE
  L8E9L4_HUMAN UniProtKB/TrEMBL
  OPN3_HUMAN UniProtKB/Swiss-Prot
  Q6GMT1 ENTREZGENE, UniProtKB/TrEMBL
  Q6P5W7_HUMAN UniProtKB/TrEMBL
  Q8IX08 ENTREZGENE
  Q9H1Y3 ENTREZGENE
  Q9Y344 ENTREZGENE
UniProt Secondary Q8IX08 UniProtKB/Swiss-Prot
  Q9Y344 UniProtKB/Swiss-Prot