NETO1 (neuropilin and tolloid like 1) - Rat Genome Database

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Gene: NETO1 (neuropilin and tolloid like 1) Homo sapiens
Analyze
Symbol: NETO1
Name: neuropilin and tolloid like 1
RGD ID: 1348864
HGNC Page HGNC
Description: Predicted to enable ionotropic glutamate receptor binding activity. Involved in regulation of kainate selective glutamate receptor activity. Predicted to be located in excitatory synapse and postsynaptic density membrane. Predicted to be active in glutamatergic synapse. Predicted to be integral component of postsynaptic density membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCTL1; brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1; BTCL1; FLJ41325; neuropilin (NRP) and tolloid (TLL)-like 1; neuropilin and tolloid-like protein 1; RP11-713C5.1
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 Ensembl1872,742,314 - 72,868,146 (-)EnsemblGRCh38hg38GRCh38
GRCh381872,742,314 - 72,867,987 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371870,409,549 - 70,535,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361868,565,767 - 68,685,790 (-)NCBINCBI36hg18NCBI36
Build 341868,565,766 - 68,683,914NCBI
Celera1867,266,714 - 67,386,741 (-)NCBI
Cytogenetic Map18q22.3NCBI
HuRef1867,129,054 - 67,254,266 (-)NCBIHuRef
CHM1_11870,404,789 - 70,530,029 (-)NCBICHM1_1
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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:11943477   PMID:12477932   PMID:14702039   PMID:15489334   PMID:19243221   PMID:19913121   PMID:20499253   PMID:20628086   PMID:21623363   PMID:21734292   PMID:22205981  
PMID:22566634   PMID:23408906   PMID:23621516   PMID:23824909   PMID:24315451   PMID:26277340   PMID:26991362   PMID:28100490   PMID:28611215   PMID:28680963   PMID:32638511  


Genomics

Comparative Map Data
NETO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1872,742,314 - 72,868,146 (-)EnsemblGRCh38hg38GRCh38
GRCh381872,742,314 - 72,867,987 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371870,409,549 - 70,535,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361868,565,767 - 68,685,790 (-)NCBINCBI36hg18NCBI36
Build 341868,565,766 - 68,683,914NCBI
Celera1867,266,714 - 67,386,741 (-)NCBI
Cytogenetic Map18q22.3NCBI
HuRef1867,129,054 - 67,254,266 (-)NCBIHuRef
CHM1_11870,404,789 - 70,530,029 (-)NCBICHM1_1
Neto1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391886,411,110 - 86,524,482 (+)NCBIGRCm39mm39
GRCm39 Ensembl1886,413,077 - 86,524,843 (+)Ensembl
GRCm381886,394,815 - 86,506,721 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1886,394,952 - 86,506,718 (+)EnsemblGRCm38mm10GRCm38
MGSCv371886,564,344 - 86,671,289 (+)NCBIGRCm37mm9NCBIm37
MGSCv361886,529,145 - 86,635,466 (+)NCBImm8
Celera1887,432,805 - 87,540,028 (+)NCBICelera
Cytogenetic Map18E4NCBI
Neto1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21879,635,633 - 79,753,913 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1879,635,633 - 79,749,030 (+)Ensembl
Rnor_6.01883,471,342 - 83,585,043 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1883,471,342 - 83,584,357 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01882,532,693 - 82,646,402 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41882,888,369 - 83,107,662 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1878,220,855 - 78,334,439 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Neto1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540256,262,137 - 56,376,142 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540256,262,137 - 56,376,105 (-)NCBIChiLan1.0ChiLan1.0
NETO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11869,402,193 - 69,527,333 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1869,408,116 - 69,527,333 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01866,114,425 - 66,240,141 (-)NCBIMhudiblu_PPA_v0panPan3
NETO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.116,114,152 - 6,242,178 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl16,114,067 - 6,225,821 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha17,125,478 - 7,252,116 (+)NCBI
ROS_Cfam_1.015,929,615 - 6,056,608 (+)NCBI
UMICH_Zoey_3.115,967,271 - 6,093,806 (+)NCBI
UNSW_CanFamBas_1.015,921,208 - 6,048,154 (+)NCBI
UU_Cfam_GSD_1.016,139,656 - 6,266,730 (+)NCBI
Neto1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494419,972,680 - 20,078,513 (+)NCBI
SpeTri2.0NW_004936756296,584 - 403,830 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NETO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1150,711,627 - 150,817,473 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11150,711,486 - 150,821,626 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21167,021,548 - 167,061,940 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NETO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1186,956,629 - 7,082,135 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl186,957,091 - 7,076,892 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606018,776,177 - 18,902,102 (-)NCBIVero_WHO_p1.0
Neto1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248068,013,955 - 8,128,867 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-14307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371870,411,039 - 70,411,150UniSTSGRCh37
Build 361868,562,019 - 68,562,130RGDNCBI36
Celera1867,262,966 - 67,263,077RGD
Cytogenetic Map18q22.2UniSTS
HuRef1867,130,544 - 67,130,655UniSTS
GeneMap99-GB4 RH Map18457.23UniSTS
Whitehead-RH Map18505.6UniSTS
NCBI RH Map18796.0UniSTS
SHGC-84490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371870,442,060 - 70,442,356UniSTSGRCh37
Build 361868,593,040 - 68,593,336RGDNCBI36
Celera1867,293,988 - 67,294,284RGD
Cytogenetic Map18q22.2UniSTS
HuRef1867,161,638 - 67,161,934UniSTS
TNG Radiation Hybrid Map1829618.0UniSTS
G65692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371870,532,085 - 70,532,858UniSTSGRCh37
Celera1867,384,016 - 67,384,789UniSTS
Cytogenetic Map18q22.2UniSTS
HuRef1867,251,541 - 67,252,314UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1947
Count of miRNA genes:965
Interacting mature miRNAs:1148
Transcripts:ENST00000299430, ENST00000327305, ENST00000397929, ENST00000577184, ENST00000579169, ENST00000579730, ENST00000580049, ENST00000582281, ENST00000583169
Prediction methods:Microtar, 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
High
Medium 3 3 1 52 1 27 7 230 9 4 33
Low 85 169 327 6 634 6 899 18 2088 57 318 394 3 1 527 345
Below cutoff 1587 2384 909 282 916 142 2687 1372 1351 195 632 852 140 657 1820

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001201465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM424062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU739516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327305   ⟹   ENSP00000313088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,743,756 - 72,867,987 (-)Ensembl
RefSeq Acc Id: ENST00000397929   ⟹   ENSP00000381024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,834,039 - 72,865,699 (-)Ensembl
RefSeq Acc Id: ENST00000577184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,867,702 - 72,868,146 (-)Ensembl
RefSeq Acc Id: ENST00000579169   ⟹   ENSP00000464188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,858,980 - 72,867,031 (-)Ensembl
RefSeq Acc Id: ENST00000579730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,783,801 - 72,867,373 (-)Ensembl
RefSeq Acc Id: ENST00000582281   ⟹   ENSP00000462993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,747,142 - 72,749,038 (-)Ensembl
RefSeq Acc Id: ENST00000583169   ⟹   ENSP00000464312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1872,742,314 - 72,867,575 (-)Ensembl
RefSeq Acc Id: NM_001201465   ⟹   NP_001188394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,742,314 - 72,867,987 (-)NCBI
GRCh371870,409,549 - 70,534,828 (-)NCBI
HuRef1867,129,054 - 67,254,266 (-)ENTREZGENE
CHM1_11870,404,789 - 70,530,029 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354017   ⟹   NP_001340946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,743,756 - 72,867,987 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354018   ⟹   NP_001340947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,742,314 - 72,867,987 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354020   ⟹   NP_001340949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,743,756 - 72,867,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354021   ⟹   NP_001340950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,834,033 - 72,867,987 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354022   ⟹   NP_001340951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,834,033 - 72,867,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138966   ⟹   NP_620416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,743,756 - 72,867,987 (-)NCBI
GRCh371870,409,549 - 70,534,828 (-)NCBI
Build 361868,565,767 - 68,685,790 (-)NCBI Archive
Celera1867,266,714 - 67,386,741 (-)RGD
HuRef1867,129,054 - 67,254,266 (-)ENTREZGENE
CHM1_11870,406,231 - 70,530,029 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138999   ⟹   NP_620552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,834,033 - 72,865,686 (-)NCBI
GRCh371870,409,549 - 70,534,828 (-)NCBI
Build 361868,652,254 - 68,683,914 (-)NCBI Archive
Celera1867,266,714 - 67,386,741 (-)RGD
HuRef1867,129,054 - 67,254,266 (-)ENTREZGENE
CHM1_11870,496,492 - 70,528,153 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148694
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,743,756 - 72,867,987 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148695
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,743,756 - 72,867,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026017   ⟹   XP_016881506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,747,776 - 72,867,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026018   ⟹   XP_016881507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,747,776 - 72,867,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026019   ⟹   XP_016881508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,747,776 - 72,867,079 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026022   ⟹   XP_016881511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,810,216 - 72,867,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026023   ⟹   XP_016881512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,854,121 - 72,867,355 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_620416   ⟸   NM_138966
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: NP_620552   ⟸   NM_138999
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8TDF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001188394   ⟸   NM_001201465
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: XP_016881507   ⟸   XM_017026018
- Peptide Label: isoform X1
- UniProtKB: Q8TDF5 (UniProtKB/Swiss-Prot),   A0A024R375 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881506   ⟸   XM_017026017
- Peptide Label: isoform X1
- UniProtKB: Q8TDF5 (UniProtKB/Swiss-Prot),   A0A024R375 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881508   ⟸   XM_017026019
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881511   ⟸   XM_017026022
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016881512   ⟸   XM_017026023
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001340947   ⟸   NM_001354018
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001340946   ⟸   NM_001354017
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: NP_001340949   ⟸   NM_001354020
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340950   ⟸   NM_001354021
- Peptide Label: isoform 6 precursor
- Sequence:
RefSeq Acc Id: NP_001340951   ⟸   NM_001354022
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: ENSP00000462993   ⟸   ENST00000582281
RefSeq Acc Id: ENSP00000464312   ⟸   ENST00000583169
RefSeq Acc Id: ENSP00000313088   ⟸   ENST00000327305
RefSeq Acc Id: ENSP00000464188   ⟸   ENST00000579169
RefSeq Acc Id: ENSP00000381024   ⟸   ENST00000397929
Protein Domains
CUB   LDL-receptor class A

Promoters
RGD ID:6794841
Promoter ID:HG_KWN:28213
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000407964,   OTTHUMT00000256301,   UC002LKW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361868,685,886 - 68,687,137 (-)MPROMDB
RGD ID:7237583
Promoter ID:EPDNEW_H24537
Type:initiation region
Name:NETO1_2
Description:neuropilin and tolloid like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24538  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,867,519 - 72,867,579EPDNEW
RGD ID:7237585
Promoter ID:EPDNEW_H24538
Type:initiation region
Name:NETO1_1
Description:neuropilin and tolloid like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24537  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381872,867,976 - 72,868,036EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3(chr18:72267740-73676450)x3 copy number gain See cases [RCV000054102] Chr18:72267740..73676450 [GRCh38]
Chr18:69934975..71343685 [GRCh37]
Chr18:68085955..69494665 [NCBI36]
Chr18:18q22.3
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|See cases [RCV000053903] Chr18:67078720..77675655 [GRCh38]
Chr18:64745957..75387611 [GRCh37]
Chr18:62896937..73516599 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
NM_001201465.1(NETO1):c.1062C>T (p.Ile354=) single nucleotide variant Malignant melanoma [RCV000071897] Chr18:72750541 [GRCh38]
Chr18:70417776 [GRCh37]
Chr18:68568756 [NCBI36]
Chr18:18q22.3
not provided
NM_001201465.1(NETO1):c.440G>A (p.Gly147Glu) single nucleotide variant Malignant melanoma [RCV000071898] Chr18:72858855 [GRCh38]
Chr18:70526090 [GRCh37]
Chr18:68677070 [NCBI36]
Chr18:18q22.3
not provided
NM_001201465.1(NETO1):c.958C>T (p.Pro320Ser) single nucleotide variant Malignant melanoma [RCV000063413] Chr18:72756058 [GRCh38]
Chr18:70423293 [GRCh37]
Chr18:68574273 [NCBI36]
Chr18:18q22.3
not provided
NM_001201465.1(NETO1):c.541G>A (p.Gly181Arg) single nucleotide variant Malignant melanoma [RCV000063414] Chr18:72794215 [GRCh38]
Chr18:70461450 [GRCh37]
Chr18:68612430 [NCBI36]
Chr18:18q22.3
not provided
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q22.3(chr18:72507524-72965497)x1 copy number loss See cases [RCV000139922] Chr18:72507524..72965497 [GRCh38]
Chr18:70174759..70632732 [GRCh37]
Chr18:68325739..68783712 [NCBI36]
Chr18:18q22.3
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic|likely pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23
likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q22.3(chr18:68882563-70924764)x1 copy number loss See cases [RCV000510558] Chr18:68882563..70924764 [GRCh37]
Chr18:18q22.3
likely benign
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.3(chr18:69072914-70454462)x1 copy number loss See cases [RCV000510573] Chr18:69072914..70454462 [GRCh37]
Chr18:18q22.3
uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q22.3(chr18:68734452-72023650)x3 copy number gain not provided [RCV000684035] Chr18:68734452..72023650 [GRCh37]
Chr18:18q22.3
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23
benign
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q22.3(chr18:70412666-71791202)x1 copy number loss not provided [RCV001007003] Chr18:70412666..71791202 [GRCh37]
Chr18:18q22.3
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23
pathogenic
NM_138966.5(NETO1):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV000971126] Chr18:72865236 [GRCh38]
Chr18:70532471 [GRCh37]
Chr18:18q22.3
benign
Single allele deletion Congenital malrotation of intestine [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
NM_138966.5(NETO1):c.1460C>G (p.Ala487Gly) single nucleotide variant not provided [RCV000959487] Chr18:72750143 [GRCh38]
Chr18:70417378 [GRCh37]
Chr18:18q22.3
benign
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.3(chr18:69163716-72387913)x3 copy number gain not provided [RCV000849312] Chr18:69163716..72387913 [GRCh37]
Chr18:18q22.3
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q22.1-22.3(chr18:63585740-70885038)x3 copy number gain not provided [RCV001007002] Chr18:63585740..70885038 [GRCh37]
Chr18:18q22.1-22.3
likely pathogenic
GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1 copy number loss not provided [RCV001007009] Chr18:66620343..74065460 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1 copy number loss not provided [RCV001007010] Chr18:61994711..74293556 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13823 AgrOrtholog
COSMIC NETO1 COSMIC
Ensembl Genes ENSG00000166342 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000313088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464188 UniProtKB/TrEMBL
  ENSP00000464312 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327305 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397929 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000579169 UniProtKB/TrEMBL
  ENST00000583169 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166342 GTEx
HGNC ID HGNC:13823 ENTREZGENE
Human Proteome Map NETO1 Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NETO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81832 UniProtKB/Swiss-Prot
NCBI Gene 81832 ENTREZGENE
OMIM 607973 OMIM
PANTHER PTHR45645:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31558 PharmGKB
PROSITE CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R375 ENTREZGENE, UniProtKB/TrEMBL
  J3QRF5_HUMAN UniProtKB/TrEMBL
  NETO1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q86W85 UniProtKB/Swiss-Prot
  Q8ND78 UniProtKB/Swiss-Prot
  Q8TDF4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 NETO1  neuropilin and tolloid like 1    neuropilin (NRP) and tolloid (TLL)-like 1  Symbol and/or name change 5135510 APPROVED