OLFM4 (olfactomedin 4) - Rat Genome Database

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Gene: OLFM4 (olfactomedin 4) Homo sapiens
Analyze
Symbol: OLFM4
Name: olfactomedin 4
RGD ID: 1323306
HGNC Page HGNC:17190
Description: Enables cadherin binding activity and structural molecule activity. Involved in positive regulation of substrate adhesion-dependent cell spreading. Located in several cellular components, including intercellular bridge; perinuclear region of cytoplasm; and specific granule. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antiapoptotic protein GW112; bA209J19.1; G-CSF-stimulated clone 1 protein; GC1; GW112; hGC-1; hOLfD; KIAA4294; olfactoimedin; olfactomedin-4; OlfD; OLM4; pDP4; tiarin; UNQ362
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381353,028,813 - 53,052,057 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1353,028,813 - 53,052,057 (+)EnsemblGRCh38hg38GRCh38
GRCh371353,602,948 - 53,626,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361352,500,973 - 52,524,193 (+)NCBINCBI36Build 36hg18NCBI36
Build 341352,500,972 - 52,524,187NCBI
Celera1334,589,022 - 34,612,243 (+)NCBICelera
Cytogenetic Map13q14.3NCBI
HuRef1334,317,261 - 34,340,581 (+)NCBIHuRef
CHM1_11353,570,960 - 53,594,281 (+)NCBICHM1_1
T2T-CHM13v2.01352,244,407 - 52,267,681 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2824652   PMID:11302958   PMID:11867215   PMID:12477932   PMID:12975309   PMID:16344560   PMID:16502470   PMID:16566923   PMID:17650212   PMID:18281536   PMID:18798264   PMID:19056867  
PMID:19199708   PMID:19450592   PMID:19670418   PMID:20534456   PMID:20724538   PMID:20878207   PMID:21048224   PMID:21067260   PMID:21270618   PMID:21415212   PMID:21470957   PMID:21832049  
PMID:21873635   PMID:21904905   PMID:21986994   PMID:22011044   PMID:22187488   PMID:22398066   PMID:22471589   PMID:22484627   PMID:22658931   PMID:22844115   PMID:23251661   PMID:23376485  
PMID:23533145   PMID:23563607   PMID:23570326   PMID:23922742   PMID:24070418   PMID:24495253   PMID:24529757   PMID:24861553   PMID:25333937   PMID:25400027   PMID:25416956   PMID:25771901  
PMID:26011333   PMID:26070873   PMID:26162090   PMID:26186194   PMID:26303970   PMID:26398045   PMID:26416558   PMID:26581960   PMID:26871282   PMID:26973250   PMID:27635771   PMID:27939521  
PMID:28012926   PMID:28320108   PMID:28514442   PMID:28669815   PMID:29488661   PMID:30137688   PMID:30764901   PMID:31241767   PMID:31318138   PMID:31432153   PMID:31515488   PMID:31923206  
PMID:31990698   PMID:32276789   PMID:32296183   PMID:32457219   PMID:33253592   PMID:33318499   PMID:33355521   PMID:33570127   PMID:33622275   PMID:33711267   PMID:33961781   PMID:34496567  
PMID:34906535   PMID:34912753   PMID:35156780   PMID:35337817   PMID:35410162   PMID:35487976   PMID:35806447   PMID:36349502   PMID:36549285   PMID:36577836   PMID:36949045   PMID:37280213  
PMID:38613883  


Genomics

Comparative Map Data
OLFM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381353,028,813 - 53,052,057 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1353,028,813 - 53,052,057 (+)EnsemblGRCh38hg38GRCh38
GRCh371353,602,948 - 53,626,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361352,500,973 - 52,524,193 (+)NCBINCBI36Build 36hg18NCBI36
Build 341352,500,972 - 52,524,187NCBI
Celera1334,589,022 - 34,612,243 (+)NCBICelera
Cytogenetic Map13q14.3NCBI
HuRef1334,317,261 - 34,340,581 (+)NCBIHuRef
CHM1_11353,570,960 - 53,594,281 (+)NCBICHM1_1
T2T-CHM13v2.01352,244,407 - 52,267,681 (+)NCBIT2T-CHM13v2.0
Olfm4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391480,237,742 - 80,260,581 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1480,221,521 - 80,260,579 (+)EnsemblGRCm39 Ensembl
GRCm381480,000,302 - 80,023,141 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1479,984,081 - 80,023,139 (+)EnsemblGRCm38mm10GRCm38
MGSCv371480,400,109 - 80,421,737 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361478,734,457 - 78,756,085 (+)NCBIMGSCv36mm8
Celera1477,496,092 - 77,517,728 (+)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1442.78NCBI
Olfm4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81561,790,889 - 61,838,773 (+)NCBIGRCr8
mRatBN7.21555,385,100 - 55,429,687 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1555,407,148 - 55,429,681 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1559,532,623 - 59,555,138 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01560,650,998 - 60,673,516 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01557,475,894 - 57,498,416 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01562,384,263 - 62,429,450 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1562,406,873 - 62,429,449 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01566,064,452 - 66,086,655 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41561,267,802 - 61,290,288 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11561,222,799 - 61,304,901 (+)NCBI
Celera1554,981,171 - 55,003,416 (+)NCBICelera
Cytogenetic Map15q12NCBI
Olfm4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540450,549,151 - 50,570,305 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540450,549,218 - 50,570,302 (-)NCBIChiLan1.0ChiLan1.0
OLFM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21454,369,604 - 54,393,154 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11353,017,773 - 53,041,321 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01334,066,155 - 34,089,468 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11352,873,289 - 52,896,616 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1352,873,289 - 52,896,827 (+)Ensemblpanpan1.1panPan2
OLFM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12210,053,494 - 10,075,759 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl229,944,025 - 10,074,722 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2210,049,679 - 10,071,946 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02210,278,301 - 10,300,554 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2210,278,100 - 10,299,477 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1229,975,280 - 9,997,549 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02210,025,509 - 10,047,757 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02210,039,441 - 10,061,690 (+)NCBIUU_Cfam_GSD_1.0
Olfm4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945150,976,186 - 150,997,332 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936667907,473 - 922,291 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936667905,556 - 923,105 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OLFM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1126,350,203 - 26,375,716 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11126,252,948 - 26,375,531 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21127,026,373 - 27,051,872 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OLFM4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1330,753,677 - 30,810,980 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl330,787,999 - 30,810,980 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605713,002,697 - 13,025,716 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Olfm4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474814,494,619 - 14,516,015 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474814,394,961 - 14,515,850 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OLFM4
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q14.3(chr13:52598879-53101818)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|See cases [RCV000052007] Chr13:52598879..53101818 [GRCh38]
Chr13:53173014..53675953 [GRCh37]
Chr13:52071015..52573954 [NCBI36]
Chr13:13q14.3
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
NM_006418.4(OLFM4):c.1121C>T (p.Ser374Leu) single nucleotide variant Malignant melanoma [RCV000062688] Chr13:53050359 [GRCh38]
Chr13:53624494 [GRCh37]
Chr13:52522495 [NCBI36]
Chr13:13q14.3
not provided
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3 copy number gain See cases [RCV000134421] Chr13:52381559..54493354 [GRCh38]
Chr13:52955694..55067489 [GRCh37]
Chr13:51853695..53965490 [NCBI36]
Chr13:13q14.3
uncertain significance
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3 copy number gain not provided [RCV001270648] Chr13:52170957..57713087 [GRCh37]
Chr13:13q14.3-21.1
uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 copy number loss not provided [RCV000509218] Chr13:51786657..54834098 [GRCh37]
Chr13:13q14.3
not provided
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 copy number gain not provided [RCV000683569] Chr13:51939350..66854666 [GRCh37]
Chr13:13q14.3-21.32
likely pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2
pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1
pathogenic
NM_006418.5(OLFM4):c.64T>G (p.Leu22Val) single nucleotide variant not specified [RCV004283723] Chr13:53028900 [GRCh38]
Chr13:53603035 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_006418.5(OLFM4):c.991A>G (p.Thr331Ala) single nucleotide variant not specified [RCV004135819] Chr13:53050229 [GRCh38]
Chr13:53624364 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.70G>C (p.Asp24His) single nucleotide variant not specified [RCV004149171] Chr13:53028906 [GRCh38]
Chr13:53603041 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.121G>C (p.Asp41His) single nucleotide variant not specified [RCV004221777] Chr13:53028957 [GRCh38]
Chr13:53603092 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1424A>G (p.Gln475Arg) single nucleotide variant not specified [RCV004160649] Chr13:53050662 [GRCh38]
Chr13:53624797 [GRCh37]
Chr13:13q14.3
likely benign
NM_006418.5(OLFM4):c.173G>A (p.Arg58His) single nucleotide variant not specified [RCV004209479] Chr13:53029009 [GRCh38]
Chr13:53603144 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.622A>C (p.Asn208His) single nucleotide variant not specified [RCV004214349] Chr13:53043156 [GRCh38]
Chr13:53617291 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.716C>T (p.Pro239Leu) single nucleotide variant not specified [RCV004109436] Chr13:53043250 [GRCh38]
Chr13:53617385 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1446C>G (p.Asn482Lys) single nucleotide variant not specified [RCV004175915] Chr13:53050684 [GRCh38]
Chr13:53624819 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.292A>G (p.Arg98Gly) single nucleotide variant not specified [RCV004188569] Chr13:53034435 [GRCh38]
Chr13:53608570 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.400C>G (p.Leu134Val) single nucleotide variant not specified [RCV004201436] Chr13:53041952 [GRCh38]
Chr13:53616087 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.302G>A (p.Arg101His) single nucleotide variant not specified [RCV004181290] Chr13:53034445 [GRCh38]
Chr13:53608580 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.332A>G (p.Gln111Arg) single nucleotide variant not specified [RCV004092400] Chr13:53034475 [GRCh38]
Chr13:53608610 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1303A>G (p.Met435Val) single nucleotide variant not specified [RCV004218244] Chr13:53050541 [GRCh38]
Chr13:53624676 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.454A>G (p.Thr152Ala) single nucleotide variant not specified [RCV004263768] Chr13:53042006 [GRCh38]
Chr13:53616141 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.835T>C (p.Ser279Pro) single nucleotide variant not specified [RCV004261693] Chr13:53050073 [GRCh38]
Chr13:53624208 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1 copy number loss not provided [RCV003483182] Chr13:51768837..54900165 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2
pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1
pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2
pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1 copy number loss not provided [RCV004442840] Chr13:50181731..54350061 [GRCh37]
Chr13:13q14.2-14.3
uncertain significance
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2
pathogenic
NM_006418.5(OLFM4):c.11G>A (p.Gly4Asp) single nucleotide variant not specified [RCV004499094] Chr13:53028847 [GRCh38]
Chr13:53602982 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.131C>T (p.Ser44Phe) single nucleotide variant not specified [RCV004499096] Chr13:53028967 [GRCh38]
Chr13:53603102 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1405A>G (p.Ile469Val) single nucleotide variant not specified [RCV004499097] Chr13:53050643 [GRCh38]
Chr13:53624778 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.223G>A (p.Gly75Ser) single nucleotide variant not specified [RCV004499098] Chr13:53034366 [GRCh38]
Chr13:53608501 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1244T>C (p.Leu415Pro) single nucleotide variant not specified [RCV004499095] Chr13:53050482 [GRCh38]
Chr13:53624617 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.1115G>A (p.Arg372His) single nucleotide variant not specified [RCV004499093] Chr13:53050353 [GRCh38]
Chr13:53624488 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_006418.5(OLFM4):c.836C>T (p.Ser279Phe) single nucleotide variant not specified [RCV004499099] Chr13:53050074 [GRCh38]
Chr13:53624209 [GRCh37]
Chr13:13q14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:484
Count of miRNA genes:384
Interacting mature miRNAs:425
Transcripts:ENST00000219022
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
406921416GWAS570392_Hunipolar depression QTL GWAS570392 (human)2e-10depressive symptom measurement135305164653051647Human
2289192BW359_HBody weight QTL 359 (human)0.0344Body fat amountpercent fat134998940475989404Human
406977678GWAS626654_Hdepressive symptom measurement QTL GWAS626654 (human)4e-11depressive symptom measurement135305164653051647Human
406997587GWAS646563_Hunipolar depression QTL GWAS646563 (human)8e-09unipolar depression135305164653051647Human
407328596GWAS977572_Hinsomnia QTL GWAS977572 (human)3e-37insomnia135305164653051647Human
407328595GWAS977571_Hinsomnia QTL GWAS977571 (human)3e-14insomnia135303985553039856Human
407328594GWAS977570_Hinsomnia QTL GWAS977570 (human)2e-16insomnia135303594253035943Human
407328593GWAS977569_Hinsomnia QTL GWAS977569 (human)2e-08insomnia135303475353034754Human
407055316GWAS704292_Hinsomnia measurement QTL GWAS704292 (human)9e-10insomnia measurement135303985553039856Human
406953307GWAS602283_Hliver fat measurement QTL GWAS602283 (human)0.000004liver lipid amount (VT:0010764)liver fat morphological measurement (CMO:0002187)135304317453043175Human
407021657GWAS670633_Hself reported educational attainment QTL GWAS670633 (human)5e-09self reported educational attainment135305164653051647Human
407017881GWAS666857_Hunipolar depression QTL GWAS666857 (human)6e-19unipolar depression135305164653051647Human
407223321GWAS872297_Hinsomnia QTL GWAS872297 (human)1e-09insomnia135303583653035837Human
406978783GWAS627759_Hintelligence QTL GWAS627759 (human)0.000003intelligence135303919653039197Human
407223323GWAS872299_Hinsomnia QTL GWAS872299 (human)1e-19insomnia135305164653051647Human
407223322GWAS872298_Hinsomnia QTL GWAS872298 (human)3e-09insomnia135303985553039856Human
407062563GWAS711539_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS711539 (human)1e-08obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa135305164653051647Human
407004003GWAS652979_Hself reported educational attainment QTL GWAS652979 (human)2e-09self reported educational attainment135304041953040420Human
406974247GWAS623223_Hsporadic amyotrophic lateral sclerosis QTL GWAS623223 (human)0.0000001sporadic amyotrophic lateral sclerosis135303942453039425Human
407232291GWAS881267_Hbone density QTL GWAS881267 (human)7e-32bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)135304161053041611Human
406908783GWAS557759_Hunipolar depression, bipolar disorder QTL GWAS557759 (human)1e-23unipolar depression, bipolar disorder135305164653051647Human
407056626GWAS705602_Hunipolar depression, autism spectrum disorder QTL GWAS705602 (human)4e-08unipolar depression, autism spectrum disorder135305164653051647Human
2292823PRSTS88_HProstate tumor susceptibility QTL 88 (human)Prostate tumor susceptibility134153205867532058Human
1643298BW212_HBody weight QTL 212 (human)2.670.0002Body weightBMI134153205867532058Human
406948858GWAS597834_Htrans fatty acid measurement, trans-16:1n-7 fatty acid measurement QTL GWAS597834 (human)0.000004trans fatty acid measurement, trans-16:1n-7 fatty acid measurementmilk trans fatty acid measurement (CMO:0000824)135303110053031101Human
406921018GWAS569994_Hunipolar depression QTL GWAS569994 (human)4e-08unipolar depression135303985553039856Human
407097592GWAS746568_Hintelligence QTL GWAS746568 (human)3e-08intelligence135305164653051647Human
407360888GWAS1009864_Hinsomnia QTL GWAS1009864 (human)2e-09insomnia135303272453032725Human

Markers in Region
RH66409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371353,626,012 - 53,626,164UniSTSGRCh37
Build 361352,524,013 - 52,524,165RGDNCBI36
Celera1334,612,063 - 34,612,215RGD
Cytogenetic Map13q14.3UniSTS
HuRef1334,340,397 - 34,340,549UniSTS
GeneMap99-GB4 RH Map13158.06UniSTS
A002P14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371353,626,002 - 53,626,127UniSTSGRCh37
Build 361352,524,003 - 52,524,128RGDNCBI36
Celera1334,612,053 - 34,612,178RGD
Cytogenetic Map13q14.3UniSTS
HuRef1334,340,387 - 34,340,512UniSTS
GeneMap99-GB4 RH Map13157.96UniSTS
NCBI RH Map13489.5UniSTS
OLFM4_9141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371353,625,469 - 53,626,352UniSTSGRCh37
Build 361352,523,470 - 52,524,353RGDNCBI36
Celera1334,611,520 - 34,612,403RGD
HuRef1334,339,854 - 34,340,737UniSTS


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
1195 2359 2760 2190 4606 1532 1997 3 475 1351 313 2024 6339 5796 20 3621 1 719 1611 1417 167

Sequence


Ensembl Acc Id: ENST00000219022   ⟹   ENSP00000219022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1353,028,813 - 53,052,057 (+)Ensembl
RefSeq Acc Id: NM_006418   ⟹   NP_006409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381353,028,813 - 53,052,057 (+)NCBI
GRCh371353,602,876 - 53,626,196 (+)ENTREZGENE
Build 361352,500,973 - 52,524,193 (+)NCBI Archive
HuRef1334,317,261 - 34,340,581 (+)ENTREZGENE
CHM1_11353,570,960 - 53,594,281 (+)NCBI
T2T-CHM13v2.01352,244,407 - 52,267,681 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006409   ⟸   NM_006418
- Peptide Label: precursor
- UniProtKB: Q5VWG0 (UniProtKB/Swiss-Prot),   O95362 (UniProtKB/Swiss-Prot),   Q86T22 (UniProtKB/Swiss-Prot),   Q6UX06 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000219022   ⟸   ENST00000219022
Protein Domains
Olfactomedin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UX06-F1-model_v2 AlphaFold Q6UX06 1-510 view protein structure

Promoters
RGD ID:7226531
Promoter ID:EPDNEW_H19012
Type:multiple initiation site
Name:OLFM4_1
Description:olfactomedin 4
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
GRCh381353,028,813 - 53,028,873EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17190 AgrOrtholog
COSMIC OLFM4 COSMIC
Ensembl Genes ENSG00000102837 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000219022 ENTREZGENE
  ENST00000219022.3 UniProtKB/Swiss-Prot
GTEx ENSG00000102837 GTEx
HGNC ID HGNC:17190 ENTREZGENE
Human Proteome Map OLFM4 Human Proteome Map
InterPro Olfac-like_dom UniProtKB/Swiss-Prot
  Olfactomedin-like_domain UniProtKB/Swiss-Prot
  Quinoprot_gluc/sorb_DH UniProtKB/Swiss-Prot
KEGG Report hsa:10562 UniProtKB/Swiss-Prot
NCBI Gene 10562 ENTREZGENE
OMIM 614061 OMIM
PANTHER OLFACTOMEDIN-RELATED UniProtKB/Swiss-Prot
  PTHR23192:SF7 UniProtKB/Swiss-Prot
Pfam OLF UniProtKB/Swiss-Prot
PharmGKB PA134984745 PharmGKB
PROSITE OLF UniProtKB/Swiss-Prot
SMART OLF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50952 UniProtKB/Swiss-Prot
UniProt O95362 ENTREZGENE
  OLFM4_HUMAN UniProtKB/Swiss-Prot
  Q5VWG0 ENTREZGENE
  Q6UX06 ENTREZGENE
  Q86T22 ENTREZGENE
UniProt Secondary O95362 UniProtKB/Swiss-Prot
  Q5VWG0 UniProtKB/Swiss-Prot
  Q86T22 UniProtKB/Swiss-Prot