C8orf37 (chromosome 8 open reading frame 37) - Rat Genome Database

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Gene: C8orf37 (chromosome 8 open reading frame 37) Homo sapiens
Analyze
Symbol: C8orf37
Name: chromosome 8 open reading frame 37
RGD ID: 1606135
HGNC Page HGNC
Description: Predicted to be involved in photoreceptor cell morphogenesis. Localizes to several cellular components, including cell junction; ciliary base; and cytosol. Implicated in Bardet-Biedl syndrome and cone-rod dystrophy 16.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Bardet-Biedl syndrome 21; BBS21; CORD16; FAP418; FLJ30600; hypothetical protein LOC157657; MOT25; RP64; smalltalk; uncharacterized protein C8orf37
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
GRCh38.p13 Ensembl895,244,913 - 95,269,201 (-)EnsemblGRCh38hg38GRCh38
GRCh38895,244,913 - 95,269,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37896,257,141 - 96,281,429 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36896,327,411 - 96,350,613 (-)NCBINCBI36hg18NCBI36
Celera892,443,250 - 92,466,452 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef891,464,582 - 91,488,907 (-)NCBIHuRef
CHM1_1896,297,393 - 96,321,714 (-)NCBICHM1_1
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of fundus pigmentation  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Anteverted nares  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beaten bronze macular sheen  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Constriction of peripheral visual field  (IAGP)
Cryptorchidism  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated hepatic transaminase  (IAGP)
Finger syndactyly  (IAGP)
Generalized hirsutism  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Horseshoe kidney  (IAGP)
Hyperautofluorescent macular lesion  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplasia of the ovary  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macular atrophy  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Nephrotic syndrome  (IAGP)
Neurological speech impairment  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Overweight  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Progressive night blindness  (IAGP)
Progressive visual loss  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal dystrophy  (IAGP)
Retinal thinning  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Type II diabetes mellitus  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:20301537   PMID:20301590   PMID:20379614   PMID:21873635   PMID:22177090   PMID:23251661   PMID:23788369   PMID:25113443   PMID:25802487  
PMID:25963833   PMID:26854863   PMID:26865426   PMID:27008867   PMID:27173435   PMID:29440555   PMID:29676528  


Genomics

Comparative Map Data
C8orf37
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl895,244,913 - 95,269,201 (-)EnsemblGRCh38hg38GRCh38
GRCh38895,244,913 - 95,269,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37896,257,141 - 96,281,429 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36896,327,411 - 96,350,613 (-)NCBINCBI36hg18NCBI36
Celera892,443,250 - 92,466,452 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef891,464,582 - 91,488,907 (-)NCBIHuRef
CHM1_1896,297,393 - 96,321,714 (-)NCBICHM1_1
2610301B20Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39410,874,249 - 10,899,425 (+)NCBIGRCm39mm39
GRCm39 Ensembl410,874,498 - 10,899,425 (+)Ensembl
GRCm38410,874,044 - 10,899,425 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl410,874,498 - 10,899,425 (+)EnsemblGRCm38mm10GRCm38
MGSCv37410,801,645 - 10,826,572 (+)NCBIGRCm37mm9NCBIm37
MGSCv36410,801,755 - 10,826,572 (+)NCBImm8
Celera410,682,505 - 10,707,570 (+)NCBICelera
Cytogenetic Map4A1NCBI
MGC94199
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2523,996,395 - 24,015,609 (+)NCBI
Rnor_6.0 Ensembl524,146,171 - 24,165,463 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl523,358,841 - 23,377,651 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0524,145,829 - 24,165,467 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0523,358,464 - 23,377,697 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0528,872,882 - 28,892,517 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4524,739,859 - 24,758,750 (+)NCBIRGSC3.4rn4RGSC3.4
Celera523,215,936 - 23,234,950 (+)NCBICelera
Cytogenetic Map5q13NCBI
LOC102004385
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541711,357,367 - 11,380,941 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541711,357,367 - 11,381,287 (-)NCBIChiLan1.0ChiLan1.0
C8H8orf37
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1894,062,122 - 94,086,564 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl894,062,122 - 94,086,565 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0891,862,207 - 91,887,127 (-)NCBIMhudiblu_PPA_v0panPan3
C29H8orf37
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12939,856,910 - 39,869,759 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2939,856,948 - 39,869,112 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2940,015,189 - 40,034,004 (-)NCBI
ROS_Cfam_1.02940,056,037 - 40,074,896 (-)NCBI
UMICH_Zoey_3.12940,070,396 - 40,089,194 (-)NCBI
UNSW_CanFamBas_1.02940,066,400 - 40,085,469 (-)NCBI
UU_Cfam_GSD_1.02940,509,239 - 40,528,285 (-)NCBI
CUNH8orf37
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530339,599,808 - 39,621,847 (+)NCBI
SpeTri2.0NW_0049365448,170,841 - 8,192,896 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C4H8orf37
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl441,373,739 - 41,394,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1441,373,725 - 41,394,688 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2444,707,160 - 44,728,131 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH8orf37
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1890,211,305 - 90,235,121 (-)NCBI
ChlSab1.1 Ensembl890,213,965 - 90,235,216 (-)Ensembl
CUNH8orf37
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247632,587,443 - 2,613,066 (-)NCBI

Position Markers
RH99292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37896,257,328 - 96,257,560UniSTSGRCh37
Build 36896,326,504 - 96,326,736RGDNCBI36
Celera892,442,343 - 92,442,575RGD
Cytogenetic Map8q22.1UniSTS
HuRef891,464,769 - 91,465,001UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
SHGC-56949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37896,257,225 - 96,257,561UniSTSGRCh37
Build 36896,326,401 - 96,326,737RGDNCBI36
Celera892,442,240 - 92,442,576RGD
Cytogenetic Map8q22.1UniSTS
HuRef891,464,666 - 91,465,002UniSTS
TNG Radiation Hybrid Map845874.0UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1032
Count of miRNA genes:681
Interacting mature miRNAs:764
Transcripts:ENST00000286688
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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 8 1 12 3 49 3 8 10 48 29 105 71 1
Low 2376 2219 1686 596 1224 437 4199 1945 3662 383 1353 1539 174 1 1203 2643 5 2
Below cutoff 53 755 28 25 661 25 149 241 24 7 2 3 1 145

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000286688   ⟹   ENSP00000286688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,244,913 - 95,269,201 (-)Ensembl
RefSeq Acc Id: NM_001363260   ⟹   NP_001350189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,244,913 - 95,269,201 (-)NCBI
RefSeq Acc Id: NM_177965   ⟹   NP_808880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,244,913 - 95,269,201 (-)NCBI
GRCh37896,257,141 - 96,281,707 (-)NCBI
Build 36896,327,411 - 96,350,613 (-)NCBI Archive
Celera892,443,250 - 92,466,452 (-)RGD
HuRef891,464,582 - 91,488,907 (-)ENTREZGENE
CHM1_1896,297,393 - 96,321,714 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_808880   ⟸   NM_177965
- Peptide Label: isoform 1
- UniProtKB: Q96NL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350189   ⟸   NM_001363260
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000286688   ⟸   ENST00000286688

Promoters
RGD ID:7213813
Promoter ID:EPDNEW_H12652
Type:multiple initiation site
Name:C8orf37_1
Description:chromosome 8 open reading frame 37
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12653  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,269,201 - 95,269,261EPDNEW
RGD ID:7213815
Promoter ID:EPDNEW_H12653
Type:initiation region
Name:C8orf37_2
Description:chromosome 8 open reading frame 37
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12652  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,269,418 - 95,269,478EPDNEW
RGD ID:6806527
Promoter ID:HG_KWN:61748
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:ENST00000286688
Position:
Human AssemblyChrPosition (strand)Source
Build 36896,350,346 - 96,350,997 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_177965.4(C8orf37):c.497T>A (p.Leu166Ter) single nucleotide variant Retinitis pigmentosa 64 [RCV000024191] Chr8:95247744 [GRCh38]
Chr8:96259972 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.156-2A>G single nucleotide variant Cone-rod dystrophy 16 [RCV000024192] Chr8:95263776 [GRCh38]
Chr8:96276004 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257837]|Bardet-Biedl syndrome 21 [RCV000477682]|Cone-rod dystrophy 16 [RCV000024193]|Retinitis pigmentosa [RCV001002908] Chr8:95247712 [GRCh38]
Chr8:96259940 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_177965.4(C8orf37):c.545A>G (p.Gln182Arg) single nucleotide variant Retinitis pigmentosa 64 [RCV000024194]|Retinitis pigmentosa [RCV001002907] Chr8:95247696 [GRCh38]
Chr8:96259924 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_177965.4(C8orf37):c.521A>G (p.Lys174Arg) single nucleotide variant Cone-rod dystrophy 16 [RCV000376242]|Retinitis pigmentosa [RCV000265472]|not provided [RCV000400757]|not specified [RCV001174660] Chr8:95247720 [GRCh38]
Chr8:96259948 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2330C>T single nucleotide variant Cone-rod dystrophy 16 [RCV000286245]|Retinitis pigmentosa [RCV000404169] Chr8:95245287 [GRCh38]
Chr8:96257515 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.*2102G>A single nucleotide variant Cone-rod dystrophy 16 [RCV000303769]|Retinitis pigmentosa [RCV000345990] Chr8:95245515 [GRCh38]
Chr8:96257743 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2617G>T single nucleotide variant Cone-rod dystrophy 16 [RCV000332599]|Retinitis pigmentosa [RCV000270615] Chr8:95245000 [GRCh38]
Chr8:96257228 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.156-11C>T single nucleotide variant Cone-rod dystrophy 16 [RCV000288270]|Retinitis pigmentosa [RCV000345482]|none provided [RCV001001922] Chr8:95263785 [GRCh38]
Chr8:96276013 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*2017C>G single nucleotide variant Cone-rod dystrophy 16 [RCV000396872]|Retinitis pigmentosa [RCV000306357] Chr8:95245600 [GRCh38]
Chr8:96257828 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.450G>A (p.Ser150=) single nucleotide variant Cone-rod dystrophy 16 [RCV000384966]|Retinitis pigmentosa [RCV000327534]|none provided [RCV001000402] Chr8:95252208 [GRCh38]
Chr8:96264436 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_177965.4(C8orf37):c.*1458A>C single nucleotide variant Cone-rod dystrophy 16 [RCV000291421]|Retinitis pigmentosa [RCV000377868] Chr8:95246159 [GRCh38]
Chr8:96258387 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*2525T>C single nucleotide variant Cone-rod dystrophy 16 [RCV000331420]|Retinitis pigmentosa [RCV000374766] Chr8:95245092 [GRCh38]
Chr8:96257320 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*1949C>G single nucleotide variant Cone-rod dystrophy 16 [RCV000275821]|Retinitis pigmentosa [RCV000363343] Chr8:95245668 [GRCh38]
Chr8:96257896 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*2549C>A single nucleotide variant Cone-rod dystrophy 16 [RCV000389489]|Retinitis pigmentosa [RCV000292843] Chr8:95245068 [GRCh38]
Chr8:96257296 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*408G>A single nucleotide variant Cone-rod dystrophy 16 [RCV000312538]|Retinitis pigmentosa [RCV000394918] Chr8:95247209 [GRCh38]
Chr8:96259437 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*406A>T single nucleotide variant Cone-rod dystrophy 16 [RCV000355695]|Retinitis pigmentosa [RCV000262781] Chr8:95247211 [GRCh38]
Chr8:96259439 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1870T>A single nucleotide variant Cone-rod dystrophy 16 [RCV000314618]|Retinitis pigmentosa [RCV000366969] Chr8:95245747 [GRCh38]
Chr8:96257975 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.55C>G (p.Pro19Ala) single nucleotide variant Cone-rod dystrophy 16 [RCV000296275]|Retinitis pigmentosa [RCV000388385]|none provided [RCV001282633]|not specified [RCV000730956] Chr8:95269135 [GRCh38]
Chr8:96281363 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*383C>T single nucleotide variant Cone-rod dystrophy 16 [RCV000354190]|Retinitis pigmentosa [RCV000296858] Chr8:95247234 [GRCh38]
Chr8:96259462 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.3(C8orf37):c.-22G>A single nucleotide variant Cone-Rod Dystrophy, Recessive [RCV000338786]|Retinitis Pigmentosa, Recessive [RCV000281085] Chr8:95269211 [GRCh38]
Chr8:96281439 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1629T>G single nucleotide variant Cone-rod dystrophy 16 [RCV000317544]|Retinitis pigmentosa [RCV000379017] Chr8:95245988 [GRCh38]
Chr8:96258216 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.528A>G (p.Thr176=) single nucleotide variant Cone-rod dystrophy 16 [RCV000625262]|Retinitis pigmentosa [RCV000323905]|not provided [RCV000954269] Chr8:95247713 [GRCh38]
Chr8:96259941 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177965.4(C8orf37):c.*2419T>A single nucleotide variant Cone-rod dystrophy 16 [RCV000335370]|Retinitis pigmentosa [RCV000282652] Chr8:95245198 [GRCh38]
Chr8:96257426 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_177965.4(C8orf37):c.*2163T>C single nucleotide variant Cone-rod dystrophy 16 [RCV000343489]|Retinitis pigmentosa [RCV000403792] Chr8:95245454 [GRCh38]
Chr8:96257682 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*1675G>T single nucleotide variant Cone-rod dystrophy 16 [RCV000259942]|Retinitis pigmentosa [RCV000375670] Chr8:95245942 [GRCh38]
Chr8:96258170 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1623_*1624dup duplication Cone-Rod Dystrophy, Recessive [RCV000286862]|Retinitis Pigmentosa, Recessive [RCV000339626] Chr8:95245992..95245993 [GRCh38]
Chr8:96258220..96258221 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1687T>A single nucleotide variant Cone-rod dystrophy 16 [RCV000318778]|Retinitis pigmentosa [RCV000275371] Chr8:95245930 [GRCh38]
Chr8:96258158 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.126G>C (p.Arg42=) single nucleotide variant Cone-rod dystrophy 16 [RCV001169701]|Retinitis pigmentosa [RCV001169700]|not provided [RCV000883271]|not specified [RCV000322042] Chr8:95269064 [GRCh38]
Chr8:96281292 [GRCh37]
Chr8:8q22.1
benign|uncertain significance
NM_177965.4(C8orf37):c.533C>T (p.Ala178Val) single nucleotide variant Bardet-Biedl syndrome 21 [RCV000585748] Chr8:95247708 [GRCh38]
Chr8:96259936 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.-5T>C single nucleotide variant Cone-rod dystrophy 16 [RCV000403058]|Retinitis pigmentosa [RCV000348812] Chr8:95269194 [GRCh38]
Chr8:96281422 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*944A>C single nucleotide variant Cone-rod dystrophy 16 [RCV000352271]|Retinitis pigmentosa [RCV000313525] Chr8:95246673 [GRCh38]
Chr8:96258901 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*965C>G single nucleotide variant Cone-rod dystrophy 16 [RCV000405932]|Retinitis pigmentosa [RCV000344083] Chr8:95246652 [GRCh38]
Chr8:96258880 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.269A>G (p.Asn90Ser) single nucleotide variant Cone-rod dystrophy 16 [RCV000625263]|Retinitis pigmentosa [RCV001167827] Chr8:95260507 [GRCh38]
Chr8:96272735 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.512T>G (p.Ile171Arg) single nucleotide variant not provided [RCV000733676] Chr8:95247729 [GRCh38]
Chr8:96259957 [GRCh37]
Chr8:8q22.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177965.4(C8orf37):c.244-2A>C single nucleotide variant Retinitis pigmentosa 64 [RCV000477709] Chr8:95260534 [GRCh38]
Chr8:96272762 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.155+2T>C single nucleotide variant Cone-rod dystrophy 16 [RCV000477722] Chr8:95269033 [GRCh38]
Chr8:96281261 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.304A>T (p.Lys102Ter) single nucleotide variant Bardet-Biedl syndrome 21 [RCV000477690] Chr8:95260472 [GRCh38]
Chr8:96272700 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.555G>A (p.Trp185Ter) single nucleotide variant Retinitis pigmentosa 64 [RCV000477743] Chr8:95247686 [GRCh38]
Chr8:96259914 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177965.4(C8orf37):c.*2212C>G single nucleotide variant Cone-rod dystrophy 16 [RCV001165512]|Retinitis pigmentosa [RCV001165513] Chr8:95245405 [GRCh38]
Chr8:96257633 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2094C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001167115]|Retinitis pigmentosa [RCV001167114] Chr8:95245523 [GRCh38]
Chr8:96257751 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.155+8G>A single nucleotide variant Cone-rod dystrophy 16 [RCV001169699]|Retinitis pigmentosa [RCV001169698]|not provided [RCV000971378] Chr8:95269027 [GRCh38]
Chr8:96281255 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.433_444del (p.Tyr145_Asp148del) deletion Retinal dystrophy [RCV001074259] Chr8:95252214..95252225 [GRCh38]
Chr8:96264442..96264453 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.16_19del (p.Asp6fs) deletion C8orf37-Related Disorders [RCV000778138] Chr8:95269171..95269174 [GRCh38]
Chr8:96281399..96281402 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.599_600insCA (p.Arg201fs) insertion C8orf37-Related Disorders [RCV000778868] Chr8:95247641..95247642 [GRCh38]
Chr8:96259869..96259870 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.392G>A (p.Arg131His) single nucleotide variant not provided [RCV000899041] Chr8:95252266 [GRCh38]
Chr8:96264494 [GRCh37]
Chr8:8q22.1
likely benign
NM_177965.4(C8orf37):c.17A>G (p.Asp6Gly) single nucleotide variant not provided [RCV001055608] Chr8:95269173 [GRCh38]
Chr8:96281401 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2009C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001167691]|Retinitis pigmentosa [RCV001167692] Chr8:95245608 [GRCh38]
Chr8:96257836 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1904G>A single nucleotide variant Cone-rod dystrophy 16 [RCV001167694]|Retinitis pigmentosa [RCV001167693] Chr8:95245713 [GRCh38]
Chr8:96257941 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2129A>G single nucleotide variant Cone-rod dystrophy 16 [RCV001167112]|Retinitis pigmentosa [RCV001167113] Chr8:95245488 [GRCh38]
Chr8:96257716 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2492C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001169527]|Retinitis pigmentosa [RCV001169526] Chr8:95245125 [GRCh38]
Chr8:96257353 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*155G>T single nucleotide variant Cone-rod dystrophy 16 [RCV001167240]|Retinitis pigmentosa [RCV001167239] Chr8:95247462 [GRCh38]
Chr8:96259690 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1151A>G single nucleotide variant Cone-rod dystrophy 16 [RCV001167180]|Retinitis pigmentosa [RCV001167179] Chr8:95246466 [GRCh38]
Chr8:96258694 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*644C>G single nucleotide variant Cone-rod dystrophy 16 [RCV001169633]|Retinitis pigmentosa [RCV001169632] Chr8:95246973 [GRCh38]
Chr8:96259201 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*1628A>T single nucleotide variant Cone-rod dystrophy 16 [RCV001165582]|Retinitis pigmentosa [RCV001165583] Chr8:95245989 [GRCh38]
Chr8:96258217 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_177965.4(C8orf37):c.94G>A (p.Gly32Ser) single nucleotide variant Cone-rod dystrophy 16 [RCV000988098] Chr8:95269096 [GRCh38]
Chr8:96281324 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177965.4(C8orf37):c.317C>T (p.Pro106Leu) single nucleotide variant not provided [RCV001209304] Chr8:95259897 [GRCh38]
Chr8:96272125 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.134C>G (p.Ala45Gly) single nucleotide variant not provided [RCV001226362] Chr8:95269056 [GRCh38]
Chr8:96281284 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*249T>C single nucleotide variant Cone-rod dystrophy 16 [RCV001167238]|Retinitis pigmentosa [RCV001167237] Chr8:95247368 [GRCh38]
Chr8:96259596 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1057C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001167753]|Retinitis pigmentosa [RCV001167754] Chr8:95246560 [GRCh38]
Chr8:96258788 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1607T>C single nucleotide variant Cone-rod dystrophy 16 [RCV001165584]|Retinitis pigmentosa [RCV001165585] Chr8:95246010 [GRCh38]
Chr8:96258238 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*336G>A single nucleotide variant Cone-rod dystrophy 16 [RCV001165648]|Retinitis pigmentosa [RCV001165647] Chr8:95247281 [GRCh38]
Chr8:96259509 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.363del (p.Asn121fs) deletion Cone-rod dystrophy 16 [RCV001196598] Chr8:95259851 [GRCh38]
Chr8:96272079 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.177dup (p.Glu60fs) duplication not provided [RCV001229644] Chr8:95263752..95263753 [GRCh38]
Chr8:96275980..96275981 [GRCh37]
Chr8:8q22.1
pathogenic
NM_177965.4(C8orf37):c.211C>T (p.Leu71Phe) single nucleotide variant not provided [RCV001242988] Chr8:95263719 [GRCh38]
Chr8:96275947 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*791G>T single nucleotide variant Cone-rod dystrophy 16 [RCV001169631]|Retinitis pigmentosa [RCV001169630] Chr8:95246826 [GRCh38]
Chr8:96259054 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.243T>A (p.Ser81=) single nucleotide variant not provided [RCV001240094] Chr8:95263687 [GRCh38]
Chr8:96275915 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1667T>C single nucleotide variant Cone-rod dystrophy 16 [RCV001165580]|Retinitis pigmentosa [RCV001165581] Chr8:95245950 [GRCh38]
Chr8:96258178 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.*1604C>G single nucleotide variant Cone-rod dystrophy 16 [RCV001167176]|Retinitis pigmentosa [RCV001167175] Chr8:95246013 [GRCh38]
Chr8:96258241 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.498A>G (p.Leu166=) single nucleotide variant Cone-rod dystrophy 16 [RCV001167825]|Retinitis pigmentosa [RCV001167826] Chr8:95247743 [GRCh38]
Chr8:96259971 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*863C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001169629]|Retinitis pigmentosa [RCV001169628] Chr8:95246754 [GRCh38]
Chr8:96258982 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2498A>G single nucleotide variant Cone-rod dystrophy 16 [RCV001169524]|Retinitis pigmentosa [RCV001169525] Chr8:95245119 [GRCh38]
Chr8:96257347 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.240del (p.Ser81fs) deletion Bardet-Biedl syndrome 21 [RCV001000090] Chr8:95263690 [GRCh38]
Chr8:96275918 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_177965.4(C8orf37):c.130C>T (p.Gln44Ter) single nucleotide variant Bardet-Biedl syndrome 21 [RCV001000091] Chr8:95269060 [GRCh38]
Chr8:96281288 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_177965.4(C8orf37):c.16G>A (p.Asp6Asn) single nucleotide variant not provided [RCV001068065] Chr8:95269174 [GRCh38]
Chr8:96281402 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*536A>C single nucleotide variant Cone-rod dystrophy 16 [RCV001169634]|Retinitis pigmentosa [RCV001169635] Chr8:95247081 [GRCh38]
Chr8:96259309 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.*1811A>G single nucleotide variant Cone-rod dystrophy 16 [RCV001169564]|Retinitis pigmentosa [RCV001169563] Chr8:95245806 [GRCh38]
Chr8:96258034 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_177965.4(C8orf37):c.598C>A (p.Leu200Ile) single nucleotide variant Cone-rod dystrophy 16 [RCV001167242]|Retinitis pigmentosa [RCV001167241] Chr8:95247643 [GRCh38]
Chr8:96259871 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.194G>T (p.Ser65Ile) single nucleotide variant not provided [RCV001230280] Chr8:95263736 [GRCh38]
Chr8:96275964 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.606G>A (p.Trp202Ter) single nucleotide variant not provided [RCV001213613] Chr8:95247635 [GRCh38]
Chr8:96259863 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.88C>G (p.Pro30Ala) single nucleotide variant not provided [RCV001237005] Chr8:95269102 [GRCh38]
Chr8:96281330 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*2212C>T single nucleotide variant Cone-rod dystrophy 16 [RCV001165510]|Retinitis pigmentosa [RCV001165511] Chr8:95245405 [GRCh38]
Chr8:96257633 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.*2166T>G single nucleotide variant Cone-rod dystrophy 16 [RCV001165514]|Retinitis pigmentosa [RCV001165515] Chr8:95245451 [GRCh38]
Chr8:96257679 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_177965.4(C8orf37):c.15G>A (p.Leu5=) single nucleotide variant Cone-rod dystrophy 16 [RCV001165717]|Retinitis pigmentosa [RCV001165716] Chr8:95269175 [GRCh38]
Chr8:96281403 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1115G>C single nucleotide variant Cone-rod dystrophy 16 [RCV001167752]|Retinitis pigmentosa [RCV001167751] Chr8:95246502 [GRCh38]
Chr8:96258730 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.118A>G (p.Ser40Gly) single nucleotide variant not provided [RCV001039130] Chr8:95269072 [GRCh38]
Chr8:96281300 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.*1474G>A single nucleotide variant Cone-rod dystrophy 16 [RCV001167178]|Retinitis pigmentosa [RCV001167177] Chr8:95246143 [GRCh38]
Chr8:96258371 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_177965.4(C8orf37):c.55C>T (p.Pro19Ser) single nucleotide variant not provided [RCV001324612] Chr8:95269135 [GRCh38]
Chr8:96281363 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.74G>A (p.Gly25Asp) single nucleotide variant not provided [RCV001308532] Chr8:95269116 [GRCh38]
Chr8:96281344 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.518A>C (p.Lys173Thr) single nucleotide variant not provided [RCV001314400] Chr8:95247723 [GRCh38]
Chr8:96259951 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.563T>C (p.Ile188Thr) single nucleotide variant not provided [RCV001305403] Chr8:95247678 [GRCh38]
Chr8:96259906 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.26T>C (p.Leu9Ser) single nucleotide variant not provided [RCV001351999] Chr8:95269164 [GRCh38]
Chr8:96281392 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.294A>T (p.Glu98Asp) single nucleotide variant not provided [RCV001346314] Chr8:95260482 [GRCh38]
Chr8:96272710 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.470+3A>G single nucleotide variant not provided [RCV001320673] Chr8:95252185 [GRCh38]
Chr8:96264413 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.155+12G>A single nucleotide variant not provided [RCV001349718] Chr8:95269023 [GRCh38]
Chr8:96281251 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.134C>T (p.Ala45Val) single nucleotide variant not provided [RCV001344323] Chr8:95269056 [GRCh38]
Chr8:96281284 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.172A>C (p.Lys58Gln) single nucleotide variant not provided [RCV001316029] Chr8:95263758 [GRCh38]
Chr8:96275986 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.310T>G (p.Cys104Gly) single nucleotide variant not provided [RCV001325895] Chr8:95259904 [GRCh38]
Chr8:96272132 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.71G>A (p.Arg24Gln) single nucleotide variant not provided [RCV001297195] Chr8:95269119 [GRCh38]
Chr8:96281347 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_177965.4(C8orf37):c.43A>G (p.Lys15Glu) single nucleotide variant not provided [RCV001352243] Chr8:95269147 [GRCh38]
Chr8:96281375 [GRCh37]
Chr8:8q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27232 AgrOrtholog
COSMIC C8orf37 COSMIC
Ensembl Genes ENSG00000156172 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000286688 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000286688 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000156172 GTEx
HGNC ID HGNC:27232 ENTREZGENE
Human Proteome Map C8orf37 Human Proteome Map
InterPro C8orf37 UniProtKB/Swiss-Prot
KEGG Report hsa:157657 UniProtKB/Swiss-Prot
NCBI Gene 157657 ENTREZGENE
OMIM 614477 OMIM
  614500 OMIM
  617406 OMIM
PANTHER PTHR33958 UniProtKB/Swiss-Prot
Pfam RMP UniProtKB/Swiss-Prot
PharmGKB PA142672356 PharmGKB
UniProt CH037_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary F4Y588 UniProtKB/Swiss-Prot