ODF1 (outer dense fiber of sperm tails 1) - Rat Genome Database

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Gene: ODF1 (outer dense fiber of sperm tails 1) Homo sapiens
Analyze
Symbol: ODF1
Name: outer dense fiber of sperm tails 1
RGD ID: 733828
HGNC Page HGNC
Description: Predicted to have protein domain specific binding activity. Predicted to be involved in cell differentiation; multicellular organism development; and spermatogenesis. Localizes to nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer/testis antigen 133; CT133; heat shock protein beta-10; HSPB10; MGC129928; MGC129929; ODF; ODF2; ODF27; ODFP; ODFPG; ODFPGA; ODFPGB; outer dense fiber of sperm tails, 27-kD; outer dense fiber protein 1; RT7; SODF
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 Ensembl8102,551,589 - 102,561,018 (+)EnsemblGRCh38hg38GRCh38
GRCh388102,551,589 - 102,561,018 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378103,563,817 - 103,573,246 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368103,633,036 - 103,642,422 (+)NCBINCBI36hg18NCBI36
Build 348103,633,035 - 103,642,422NCBI
Celera899,751,133 - 99,760,516 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef898,764,996 - 98,774,369 (+)NCBIHuRef
CHM1_18103,604,099 - 103,613,495 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (HDA)
outer dense fiber  (IBA,ISO)

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1418683   PMID:8111388   PMID:8305202   PMID:8873064   PMID:8949892   PMID:9045620   PMID:10373309   PMID:10381817   PMID:11329013   PMID:11468777   PMID:11774369   PMID:12477932  
PMID:12533418   PMID:12594206   PMID:15489334   PMID:17762160   PMID:20112736   PMID:20379614   PMID:21597245   PMID:21630459   PMID:21873635   PMID:23770605   PMID:25416956   PMID:27363428  
PMID:27770032   PMID:28514442   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
ODF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8102,551,589 - 102,561,018 (+)EnsemblGRCh38hg38GRCh38
GRCh388102,551,589 - 102,561,018 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378103,563,817 - 103,573,246 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368103,633,036 - 103,642,422 (+)NCBINCBI36hg18NCBI36
Build 348103,633,035 - 103,642,422NCBI
Celera899,751,133 - 99,760,516 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef898,764,996 - 98,774,369 (+)NCBIHuRef
CHM1_18103,604,099 - 103,613,495 (+)NCBICHM1_1
Odf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391538,219,447 - 38,226,979 (+)NCBIGRCm39mm39
GRCm39 Ensembl1538,219,447 - 38,226,979 (+)Ensembl
GRCm381538,219,203 - 38,226,735 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1538,219,203 - 38,226,735 (+)EnsemblGRCm38mm10GRCm38
MGSCv371538,148,958 - 38,156,490 (+)NCBIGRCm37mm9NCBIm37
MGSCv361538,163,790 - 38,171,228 (+)NCBImm8
Celera1538,838,532 - 38,846,058 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1515.14NCBI
Odf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2769,377,427 - 69,389,662 (+)NCBI
Rnor_6.0 Ensembl777,066,955 - 77,074,711 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0777,066,580 - 77,074,712 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0777,172,716 - 77,180,530 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4773,736,778 - 73,744,536 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1773,757,489 - 73,765,265 (+)NCBI
Celera766,445,193 - 66,452,953 (+)NCBICelera
Cytogenetic Map7q22NCBI
Odf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541727,145,542 - 27,150,969 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541727,145,542 - 27,150,910 (+)NCBIChiLan1.0ChiLan1.0
ODF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18101,366,611 - 101,376,030 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8101,366,611 - 101,376,030 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0899,206,018 - 99,216,111 (+)NCBIMhudiblu_PPA_v0panPan3
ODF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1134,137,119 - 4,146,557 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl134,137,257 - 4,146,555 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha134,138,615 - 4,148,054 (+)NCBI
ROS_Cfam_1.0134,297,181 - 4,306,620 (+)NCBI
UMICH_Zoey_3.1134,139,667 - 4,149,104 (+)NCBI
UNSW_CanFamBas_1.0134,252,465 - 4,261,899 (+)NCBI
UU_Cfam_GSD_1.0134,269,671 - 4,279,142 (+)NCBI
Odf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530333,642,933 - 33,651,953 (-)NCBI
SpeTri2.0NW_00493647041,069,033 - 41,078,020 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ODF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl434,511,077 - 34,520,647 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1434,511,077 - 34,520,601 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2437,337,182 - 37,346,705 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ODF1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Odf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,554,944 - 19,560,473 (+)NCBI

Position Markers
D8S1049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,565,162 - 103,565,310UniSTSGRCh37
Celera899,752,447 - 99,752,587UniSTS
Cytogenetic Map8q22.3UniSTS
HuRef898,766,310 - 98,766,450UniSTS
Marshfield Genetic Map8117.62UniSTS
Marshfield Genetic Map8117.62RGD
deCODE Assembly Map8110.4UniSTS
RH75985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,573,110 - 103,573,199UniSTSGRCh37
Build 368103,642,286 - 103,642,375RGDNCBI36
Celera899,760,381 - 99,760,470RGD
Cytogenetic Map8q22.3UniSTS
HuRef898,774,234 - 98,774,323UniSTS
ODF1__6103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,572,719 - 103,573,240UniSTSGRCh37
Build 368103,641,895 - 103,642,416RGDNCBI36
Celera899,759,990 - 99,760,511RGD
HuRef898,773,843 - 98,774,364UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:495
Count of miRNA genes:266
Interacting mature miRNAs:274
Transcripts:ENST00000285402, ENST00000518835
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 76
Medium 1 3 1 7 3 1 297 3 1 4
Low 32 31 54 7 304 5 70 19 667 4 32 40 2 25 40
Below cutoff 903 917 679 193 611 110 1528 712 2071 65 407 565 84 433 978

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000285402   ⟹   ENSP00000285402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,551,589 - 102,561,018 (+)Ensembl
RefSeq Acc Id: ENST00000518835   ⟹   ENSP00000430023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,560,462 - 102,561,017 (+)Ensembl
RefSeq Acc Id: NM_024410   ⟹   NP_077721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,551,589 - 102,561,018 (+)NCBI
GRCh378103,563,848 - 103,573,245 (+)ENTREZGENE
Build 368103,633,036 - 103,642,422 (+)NCBI Archive
HuRef898,764,996 - 98,774,369 (+)ENTREZGENE
CHM1_18103,604,099 - 103,613,495 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_077721   ⟸   NM_024410
- UniProtKB: Q14990 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430023   ⟸   ENST00000518835
RefSeq Acc Id: ENSP00000285402   ⟸   ENST00000285402

Promoters
RGD ID:7213927
Promoter ID:EPDNEW_H12710
Type:initiation region
Name:ODF1_2
Description:outer dense fiber of sperm tails 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12709  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,551,639 - 102,551,699EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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 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 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
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 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3(chr8:102551629-102577634)x3 copy number gain See cases [RCV000136803] Chr8:102551629..102577634 [GRCh38]
Chr8:103563857..103589862 [GRCh37]
Chr8:103633033..103659038 [NCBI36]
Chr8:8q22.3
benign
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
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 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 8q21.13-24.3(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 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
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 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
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
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
GRCh37/hg19 8q22.3(chr8:103131039-103661336)x3 copy number gain See cases [RCV000447650] Chr8:103131039..103661336 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
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 8q22.3(chr8:102590127-104034598)x1 copy number loss See cases [RCV000511503] Chr8:102590127..104034598 [GRCh37]
Chr8:8q22.3
likely 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 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 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely 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 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
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
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 8q22.3(chr8:103571354-103572462)x1 copy number loss not provided [RCV000747744] Chr8:103571354..103572462 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8q22.3(chr8:103571354-103572676)x1 copy number loss not provided [RCV000747745] Chr8:103571354..103572676 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8q22.3(chr8:103420680-103604941)x3 copy number gain not provided [RCV000762714] Chr8:103420680..103604941 [GRCh37]
Chr8:8q22.3
likely benign
NM_024410.4(ODF1):c.642C>G (p.Pro214=) single nucleotide variant not provided [RCV000947123] Chr8:102560773 [GRCh38]
Chr8:103573001 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103560355-103697253)x1 copy number loss not provided [RCV001006127] Chr8:103560355..103697253 [GRCh37]
Chr8:8q22.3
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_024410.4(ODF1):c.665_672del (p.Ser222fs) deletion not provided [RCV000956654] Chr8:102560796..102560803 [GRCh38]
Chr8:103573024..103573031 [GRCh37]
Chr8:8q22.3
benign
NM_024410.4(ODF1):c.674_683del (p.Asn225fs) deletion not provided [RCV000956655] Chr8:102560805..102560814 [GRCh38]
Chr8:103573033..103573042 [GRCh37]
Chr8:8q22.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8113 AgrOrtholog
COSMIC ODF1 COSMIC
Ensembl Genes ENSG00000155087 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430023 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518835 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.790 UniProtKB/Swiss-Prot
GTEx ENSG00000155087 GTEx
HGNC ID HGNC:8113 ENTREZGENE
Human Proteome Map ODF1 Human Proteome Map
InterPro A-crystallin/Hsp20_dom UniProtKB/Swiss-Prot
  HSP20-like_chaperone UniProtKB/Swiss-Prot
  ODF1_ACD UniProtKB/Swiss-Prot
  ODFP UniProtKB/Swiss-Prot
KEGG Report hsa:4956 UniProtKB/Swiss-Prot
NCBI Gene 4956 ENTREZGENE
OMIM 182878 OMIM
PANTHER PTHR17125 UniProtKB/Swiss-Prot
Pfam HSP20 UniProtKB/Swiss-Prot
PharmGKB PA31901 PharmGKB
Superfamily-SCOP SSF49764 UniProtKB/Swiss-Prot
UniProt E5RH17_HUMAN UniProtKB/TrEMBL
  ODFP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q3SX72 UniProtKB/Swiss-Prot