COLEC12 (collectin subfamily member 12) - Rat Genome Database

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Gene: COLEC12 (collectin subfamily member 12) Homo sapiens
Analyze
Symbol: COLEC12
Name: collectin subfamily member 12
RGD ID: 1347237
HGNC Page HGNC:16016
Description: Enables low-density lipoprotein particle binding activity; pattern recognition receptor activity; and scavenger receptor activity. Involved in several processes, including cellular response to exogenous dsRNA; phagocytosis, recognition; and toll-like receptor 3 signaling pathway. Acts upstream of with a positive effect on plasma membrane raft organization. Predicted to be located in endocytic vesicle membrane and plasma membrane. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLP1; collectin placenta 1; collectin placenta protein 1; collectin sub-family member 12; collectin-12; hCL-P1; NSR2; nurse cell scavenger receptor 2; SCARA4; scavenger receptor class A member 4; scavenger receptor class A, member 4; scavenger receptor with C-type lectin; SRCL
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
GRCh3818316,737 - 500,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18316,737 - 500,722 (-)EnsemblGRCh38hg38GRCh38
GRCh3718316,737 - 500,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3618309,356 - 490,685 (-)NCBINCBI36Build 36hg18NCBI36
Build 3418309,355 - 490,685NCBI
Celera18194,506 - 375,871 (-)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef18279,136 - 440,551 (-)NCBIHuRef
CHM1_118318,475 - 499,849 (-)NCBICHM1_1
T2T-CHM13v2.018470,846 - 654,740 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
astemizole  (ISO)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
chlorpyrifos  (ISO)
choline  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cytarabine  (EXP)
diazinon  (ISO)
dimethylarsinic acid  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
progesterone  (ISO)
propanal  (EXP)
pyrethrins  (ISO)
quercetin  (EXP)
rofecoxib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (ISO)
sodium aurothiomalate  (EXP)
succimer  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11162630   PMID:11564734   PMID:12477932   PMID:12601552   PMID:12761161   PMID:15845541   PMID:17043677   PMID:18423602   PMID:19073604   PMID:20034698   PMID:20237496   PMID:20351715  
PMID:20379614   PMID:21561871   PMID:21832049   PMID:21873635   PMID:22396535   PMID:23251661   PMID:23333304   PMID:23376485   PMID:25204797   PMID:25819896   PMID:26186194   PMID:26922829  
PMID:27503909   PMID:28317919   PMID:28514442   PMID:29491476   PMID:30021884   PMID:31586073   PMID:32788342   PMID:32822099   PMID:32909942   PMID:33961781   PMID:34079125   PMID:34709727  
PMID:35271311   PMID:36543142   PMID:38112409   PMID:38568322  


Genomics

Comparative Map Data
COLEC12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3818316,737 - 500,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18316,737 - 500,722 (-)EnsemblGRCh38hg38GRCh38
GRCh3718316,737 - 500,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3618309,356 - 490,685 (-)NCBINCBI36Build 36hg18NCBI36
Build 3418309,355 - 490,685NCBI
Celera18194,506 - 375,871 (-)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef18279,136 - 440,551 (-)NCBIHuRef
CHM1_118318,475 - 499,849 (-)NCBICHM1_1
T2T-CHM13v2.018470,846 - 654,740 (-)NCBIT2T-CHM13v2.0
Colec12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39189,707,648 - 9,877,995 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl189,707,595 - 9,882,644 (+)EnsemblGRCm39 Ensembl
GRCm38189,707,648 - 9,877,995 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl189,707,595 - 9,882,644 (+)EnsemblGRCm38mm10GRCm38
MGSCv37189,707,646 - 9,877,993 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36189,707,675 - 9,877,990 (+)NCBIMGSCv36mm8
Celera189,737,717 - 9,907,507 (+)NCBICelera
Cytogenetic Map18A1NCBI
cM Map184.91NCBI
Colec12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8181,005,787 - 1,193,455 (+)NCBIGRCr8
mRatBN7.218732,950 - 920,620 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl18732,950 - 920,618 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx18960,785 - 1,142,019 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0181,748,614 - 1,929,841 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.018962,684 - 1,143,918 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.018867,048 - 1,054,047 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl18867,048 - 1,052,606 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.018910,945 - 1,096,505 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.418996,297 - 1,188,288 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1181,162,605 - 1,163,261 (+)NCBI
Celera18629,852 - 811,837 (+)NCBICelera
Cytogenetic Map18p13NCBI
Colec12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554029,468,421 - 9,614,286 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554029,445,419 - 9,614,956 (+)NCBIChiLan1.0ChiLan1.0
COLEC12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21737,982,247 - 38,178,247 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11823,674,649 - 23,871,759 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01813,819,575 - 14,001,383 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11817,461,650 - 17,641,404 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1817,461,678 - 17,640,721 (+)Ensemblpanpan1.1panPan2
COLEC12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1767,192,191 - 67,373,524 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl767,193,626 - 67,372,755 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha766,645,862 - 66,826,568 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0767,257,518 - 67,438,465 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl767,258,955 - 67,438,386 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1766,935,179 - 67,115,867 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0766,946,113 - 67,126,853 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0767,248,426 - 67,429,208 (-)NCBIUU_Cfam_GSD_1.0
Colec12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494463,465,877 - 63,646,996 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936550169,084 - 350,501 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936550169,084 - 350,209 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COLEC12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6105,808,221 - 106,007,730 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16105,808,157 - 106,000,197 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
COLEC12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11859,701,131 - 59,884,445 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1859,699,348 - 59,884,461 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605034,490,498 - 34,675,112 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Colec12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477010,859,205 - 11,013,175 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477010,860,097 - 11,136,478 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COLEC12
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130386.2(COLEC12):c.59-26910C>A single nucleotide variant Lung cancer [RCV000100813] Chr18:384432 [GRCh38]
Chr18:384432 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 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 18p11.32-11.31(chr18:180230-4199943)x3 copy number gain See cases [RCV000052533] Chr18:180230..4199943 [GRCh38]
Chr18:180230..4199943 [GRCh37]
Chr18:170230..4189943 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 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-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 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-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 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 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 copy number loss See cases [RCV000053455] Chr18:53344..7029134 [GRCh38]
Chr18:53344..7029133 [GRCh37]
Chr18:43344..7019133 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 copy number loss See cases [RCV000053456] Chr18:112259..9135777 [GRCh38]
Chr18:112259..9135775 [GRCh37]
Chr18:102259..9125775 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1 copy number loss See cases [RCV000053460] Chr18:131700..3279166 [GRCh38]
Chr18:131700..3279164 [GRCh37]
Chr18:121700..3269164 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32(chr18:148763-1108996)x1 copy number loss See cases [RCV000053782] Chr18:148763..1108996 [GRCh38]
Chr18:148763..1108997 [GRCh37]
Chr18:138763..1098997 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148763-3345033)x1 copy number loss See cases [RCV000053783] Chr18:148763..3345033 [GRCh38]
Chr18:148763..3345031 [GRCh37]
Chr18:138763..3335031 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|See cases [RCV000053785] Chr18:148963..6731495 [GRCh38]
Chr18:148963..6731494 [GRCh37]
Chr18:138963..6721494 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|See cases [RCV000053786] Chr18:148963..8572827 [GRCh38]
Chr18:148963..8572825 [GRCh37]
Chr18:138963..8562825 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
NM_130386.2(COLEC12):c.1034A>G (p.Asn345Ser) single nucleotide variant Malignant melanoma [RCV000071821] Chr18:346588 [GRCh38]
Chr18:346588 [GRCh37]
Chr18:336588 [NCBI36]
Chr18:18p11.32		 not provided
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 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 18p11.32-11.31(chr18:148963-6086668)x1 copy number loss See cases [RCV000135846] Chr18:148963..6086668 [GRCh38]
Chr18:148963..6086667 [GRCh37]
Chr18:138963..6076667 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-2221286)x3 copy number gain See cases [RCV000135538] Chr18:148963..2221286 [GRCh38]
Chr18:148963..2221286 [GRCh37]
Chr18:138963..2211286 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-533693)x1 copy number loss See cases [RCV000135541] Chr18:148963..533693 [GRCh38]
Chr18:148963..533693 [GRCh37]
Chr18:138963..523693 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32(chr18:148963-2313458)x1 copy number loss See cases [RCV000136589] Chr18:148963..2313458 [GRCh38]
Chr18:148963..2313457 [GRCh37]
Chr18:138963..2303457 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3 copy number gain See cases [RCV000135894] Chr18:131500..4421014 [GRCh38]
Chr18:131500..4421014 [GRCh37]
Chr18:121500..4411014 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-1949961)x1 copy number loss See cases [RCV000137111] Chr18:148963..1949961 [GRCh38]
Chr18:148963..1949962 [GRCh37]
Chr18:138963..1939962 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32(chr18:374344-699626)x3 copy number gain See cases [RCV000136855] Chr18:374344..699626 [GRCh38]
Chr18:374344..699626 [GRCh37]
Chr18:364344..689626 [NCBI36]
Chr18:18p11.32		 benign
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-2563898)x1 copy number loss See cases [RCV000136645] Chr18:148963..2563898 [GRCh38]
Chr18:148963..2563897 [GRCh37]
Chr18:138963..2553897 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1 copy number loss See cases [RCV000137727] Chr18:118760..4342182 [GRCh38]
Chr18:118760..4342182 [GRCh37]
Chr18:108760..4332182 [NCBI36]
Chr18:18p11.32-11.31		 likely pathogenic
GRCh38/hg38 18p11.32(chr18:149089-1754473)x1 copy number loss See cases [RCV000138838] Chr18:149089..1754473 [GRCh38]
Chr18:149089..1754474 [GRCh37]
Chr18:139089..1744474 [NCBI36]
Chr18:18p11.32		 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 18p11.32-11.31(chr18:118760-6275718)x1 copy number loss See cases [RCV000139424] Chr18:118760..6275718 [GRCh38]
Chr18:118760..6275717 [GRCh37]
Chr18:108760..6265717 [NCBI36]
Chr18:18p11.32-11.31		 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 18p11.32-11.22(chr18:118760-8999132)x1 copy number loss See cases [RCV000139022] Chr18:118760..8999132 [GRCh38]
Chr18:118760..8999130 [GRCh37]
Chr18:108760..8989130 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1 copy number loss See cases [RCV000139503] Chr18:149089..5276567 [GRCh38]
Chr18:149089..5276566 [GRCh37]
Chr18:139089..5266566 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 copy number loss See cases [RCV000141428] Chr18:85432..7094700 [GRCh38]
Chr18:85432..7094699 [GRCh37]
Chr18:75432..7084699 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1 copy number loss See cases [RCV000140922] Chr18:136226..2994136 [GRCh38]
Chr18:136226..2994134 [GRCh37]
Chr18:126226..2984134 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 copy number loss See cases [RCV000140659] Chr18:118760..4470508 [GRCh38]
Chr18:118760..4470508 [GRCh37]
Chr18:108760..4460508 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 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 18p11.32(chr18:148963-1413685)x1 copy number loss See cases [RCV000142370] Chr18:148963..1413685 [GRCh38]
Chr18:148963..1413686 [GRCh37]
Chr18:138963..1403686 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32(chr18:136226-948277)x1 copy number loss See cases [RCV000142224] Chr18:136226..948277 [GRCh38]
Chr18:136226..948278 [GRCh37]
Chr18:126226..938278 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1 copy number loss See cases [RCV000142175] Chr18:136226..4002983 [GRCh38]
Chr18:136226..4002983 [GRCh37]
Chr18:126226..3992983 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3 copy number gain See cases [RCV000143058] Chr18:149089..5458472 [GRCh38]
Chr18:149089..5458471 [GRCh37]
Chr18:139089..5448471 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32(chr18:225061-776965)x3 copy number gain See cases [RCV000142726] Chr18:225061..776965 [GRCh38]
Chr18:225061..776966 [GRCh37]
Chr18:215061..766966 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32(chr18:287678-901105)x3 copy number gain See cases [RCV000143328] Chr18:287678..901105 [GRCh38]
Chr18:287678..901106 [GRCh37]
Chr18:277678..891106 [NCBI36]
Chr18:18p11.32		 uncertain significance
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 18p11.32(chr18:367724-759986)x1 copy number loss See cases [RCV000143471] Chr18:367724..759986 [GRCh38]
Chr18:367724..759986 [GRCh37]
Chr18:357724..749986 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1 copy number loss See cases [RCV000143661] Chr18:136226..4802275 [GRCh38]
Chr18:136226..4802274 [GRCh37]
Chr18:126226..4792274 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 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 18p11.32(chr18:354264-1851122)x3 copy number gain See cases [RCV000258791] Chr18:354264..1851122 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2737002)x1 copy number loss See cases [RCV000511331] Chr18:136226..2737002 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3 copy number gain See cases [RCV000240439] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3297143)x1 copy number loss See cases [RCV000449083] Chr18:136226..3297143 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3547887)x3 copy number gain See cases [RCV000446088] Chr18:136226..3547887 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22		 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 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:387895-760697)x3 copy number gain See cases [RCV000448920] Chr18:387895..760697 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32(chr18:136226-535229)x3 copy number gain See cases [RCV000447822] Chr18:136226..535229 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-4464955)x1 copy number loss See cases [RCV000448448] Chr18:136226..4464955 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-405670)x3 copy number gain See cases [RCV000448227] Chr18:136226..405670 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2296833)x1 copy number loss See cases [RCV000512129] Chr18:136226..2296833 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-718854)x3 copy number gain See cases [RCV000510661] Chr18:136226..718854 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-1742272)x1 copy number loss See cases [RCV000511941] Chr18:136226..1742272 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 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 18p11.32-11.31(chr18:136226-5323941)x1 copy number loss See cases [RCV000510776] Chr18:136226..5323941 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
Single allele deletion not provided [RCV000677915] Chr18:163327..376359 [GRCh38]
Chr18:163323..376355 [GRCh37]
Chr18:18p11.32		 likely benign
Single allele duplication not provided [RCV000677916] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1 copy number loss not provided [RCV000684041] Chr18:136226..4925310 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1 copy number loss not provided [RCV000684044] Chr18:136226..8057394 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-594726)x1 copy number loss not provided [RCV000683997] Chr18:136226..594726 [GRCh37]
Chr18:18p11.32		 likely benign
NC_000018.10:g.(?_10000)_(1543845_?)del deletion Autism [RCV000754207] Chr18:10000..1543845 [GRCh38]
Chr18:18p11.32		 likely pathogenic
GRCh37/hg19 18p11.32(chr18:12842-1078213)x1 copy number loss not provided [RCV000752243] Chr18:12842..1078213 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:12842-1606526)x1 copy number loss not provided [RCV000752244] Chr18:12842..1606526 [GRCh37]
Chr18:18p11.32		 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 18p11.32-11.31(chr18:136226-5407839)x1 copy number loss not provided [RCV001006932] Chr18:136226..5407839 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
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 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:444687-687270)x1 copy number loss not provided [RCV000752251] Chr18:444687..687270 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32(chr18:466283-680520)x3 copy number gain not provided [RCV000752252] Chr18:466283..680520 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32(chr18:469993-683607)x3 copy number gain not provided [RCV000752253] Chr18:469993..683607 [GRCh37]
Chr18:18p11.32		 benign
NM_130386.3(COLEC12):c.1564= (p.Ser522=) variation not provided [RCV000949410] Chr18:334994 [GRCh38]
Chr18:334994 [GRCh37]
Chr18:18p11.32		 benign
NM_130386.3(COLEC12):c.1755A>G (p.Pro585=) single nucleotide variant not provided [RCV000972930] Chr18:334803 [GRCh38]
Chr18:334803 [GRCh37]
Chr18:18p11.32		 benign
NM_130386.3(COLEC12):c.280+3_280+4dup duplication not provided [RCV000947867] Chr18:348060..348061 [GRCh38]
Chr18:348060..348061 [GRCh37]
Chr18:18p11.32		 benign
NM_130386.3(COLEC12):c.154A>G (p.Ile52Val) single nucleotide variant not provided [RCV000949017] Chr18:357427 [GRCh38]
Chr18:357427 [GRCh37]
Chr18:18p11.32		 benign
NM_130386.3(COLEC12):c.94A>G (p.Asn32Asp) single nucleotide variant not provided [RCV000972607] Chr18:357487 [GRCh38]
Chr18:357487 [GRCh37]
Chr18:18p11.32		 likely benign
NM_130386.3(COLEC12):c.1800= (p.Pro600=) variation not provided [RCV000950270] Chr18:334758 [GRCh38]
Chr18:334758 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1 copy number loss not provided [RCV001006930] Chr18:136226..3502493 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:13034-547239) copy number loss not provided [RCV000767813] Chr18:13034..547239 [GRCh37]
Chr18:18p11.32		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787395] Chr18:12774..1652788 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-1197643)x3 copy number gain not provided [RCV000848504] Chr18:136226..1197643 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-475796)x1 copy number loss not provided [RCV000847898] Chr18:136226..475796 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-1552876)x1 copy number loss not provided [RCV001006925] Chr18:136226..1552876 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1 copy number loss not provided [RCV001537912] Chr18:64996..6838315 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2626840)x1 copy number loss not provided [RCV001258705] Chr18:136226..2626840 [GRCh37]
Chr18:18p11.32		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1 copy number loss not provided [RCV001258861] Chr18:136226..3415478 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32(chr18:351499-825957)x3 copy number gain not provided [RCV001258704] Chr18:351499..825957 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32(chr18:1-2243194)x3 copy number gain not provided [RCV001258706] Chr18:1..2243194 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-2243194)x1 copy number loss not provided [RCV001258710] Chr18:136226..2243194 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:10001-1322185) copy number gain See cases [RCV001263035] Chr18:10001..1322185 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.2173G>A (p.Val725Ile) single nucleotide variant Inborn genetic diseases [RCV003252478] Chr18:321698 [GRCh38]
Chr18:321698 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3 copy number loss not provided [RCV001795839] Chr18:64647..4472031 [GRCh37]
Chr18:18p11.32-11.31		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136227-2694169)x1 copy number loss not provided [RCV001833048] Chr18:136227..2694169 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499) copy number loss not specified [RCV002052609] Chr18:136226..6103499 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132) copy number loss Deletion of short arm of chromosome 18 [RCV002280711] Chr18:136226..7131132 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1 copy number loss not provided [RCV002292972] Chr18:1..8638260 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32(chr18:136227-2626840)x1 copy number loss not provided [RCV002473718] Chr18:136227..2626840 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1 copy number loss not provided [RCV002472636] Chr18:136227..7218594 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:220341-556146)x3 copy number gain not provided [RCV002475787] Chr18:220341..556146 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.556A>G (p.Ser186Gly) single nucleotide variant Inborn genetic diseases [RCV002753849] Chr18:347066 [GRCh38]
Chr18:347066 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.329C>T (p.Thr110Ile) single nucleotide variant Inborn genetic diseases [RCV002688654] Chr18:347293 [GRCh38]
Chr18:347293 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.182T>C (p.Val61Ala) single nucleotide variant Inborn genetic diseases [RCV002781782] Chr18:348163 [GRCh38]
Chr18:348163 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.319G>A (p.Glu107Lys) single nucleotide variant Inborn genetic diseases [RCV002844347] Chr18:347303 [GRCh38]
Chr18:347303 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.494C>G (p.Thr165Ser) single nucleotide variant Inborn genetic diseases [RCV002758200] Chr18:347128 [GRCh38]
Chr18:347128 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1483G>C (p.Glu495Gln) single nucleotide variant Inborn genetic diseases [RCV002986959] Chr18:335075 [GRCh38]
Chr18:335075 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.800C>T (p.Thr267Met) single nucleotide variant Inborn genetic diseases [RCV002892031] Chr18:346822 [GRCh38]
Chr18:346822 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.2191G>A (p.Glu731Lys) single nucleotide variant Inborn genetic diseases [RCV002921409] Chr18:321680 [GRCh38]
Chr18:321680 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.697G>T (p.Ala233Ser) single nucleotide variant Inborn genetic diseases [RCV002964403] Chr18:346925 [GRCh38]
Chr18:346925 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1799C>T (p.Pro600Leu) single nucleotide variant Inborn genetic diseases [RCV003008707] Chr18:334759 [GRCh38]
Chr18:334759 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.707G>A (p.Arg236Gln) single nucleotide variant Inborn genetic diseases [RCV002835416] Chr18:346915 [GRCh38]
Chr18:346915 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1073G>A (p.Arg358Gln) single nucleotide variant Inborn genetic diseases [RCV002960935] Chr18:346549 [GRCh38]
Chr18:346549 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1763C>T (p.Ala588Val) single nucleotide variant Inborn genetic diseases [RCV003177848] Chr18:334795 [GRCh38]
Chr18:334795 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1442C>T (p.Ala481Val) single nucleotide variant Inborn genetic diseases [RCV003283729] Chr18:335116 [GRCh38]
Chr18:335116 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.2098C>T (p.His700Tyr) single nucleotide variant Inborn genetic diseases [RCV003173630] Chr18:321773 [GRCh38]
Chr18:321773 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.2105A>G (p.His702Arg) single nucleotide variant Inborn genetic diseases [RCV003186006] Chr18:321766 [GRCh38]
Chr18:321766 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_130386.3(COLEC12):c.1501T>C (p.Ser501Pro) single nucleotide variant Inborn genetic diseases [RCV003354720] Chr18:335057 [GRCh38]
Chr18:335057 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1073G>C (p.Arg358Pro) single nucleotide variant Inborn genetic diseases [RCV003383681] Chr18:346549 [GRCh38]
Chr18:346549 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.1913A>T (p.Lys638Met) single nucleotide variant Inborn genetic diseases [RCV003370877] Chr18:333047 [GRCh38]
Chr18:333047 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_130386.3(COLEC12):c.2018G>A (p.Arg673His) single nucleotide variant Inborn genetic diseases [RCV003378276] Chr18:331713 [GRCh38]
Chr18:331713 [GRCh37]
Chr18:18p11.32		 likely benign
NM_130386.3(COLEC12):c.187G>C (p.Glu63Gln) single nucleotide variant Inborn genetic diseases [RCV003369683] Chr18:348158 [GRCh38]
Chr18:348158 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136227-535230)x3 copy number gain not provided [RCV003485169] Chr18:136227..535230 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1 copy number loss not provided [RCV003483329] Chr18:136227..8513569 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_130386.3(COLEC12):c.921C>T (p.Asn307=) single nucleotide variant not provided [RCV003421568] Chr18:346701 [GRCh38]
Chr18:346701 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1 copy number loss not specified [RCV003987270] Chr18:136226..10365982 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1 copy number loss not specified [RCV003987293] Chr18:136227..8359829 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:270
Count of miRNA genes:244
Interacting mature miRNAs:248
Transcripts:ENST00000400256, ENST00000582147
Prediction methods: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.

Markers in Region
RH47551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718319,432 - 319,518UniSTSGRCh37
Build 3618309,432 - 309,518RGDNCBI36
Celera18194,583 - 194,669RGD
Cytogenetic Map18pter-p11.3UniSTS
HuRef18279,213 - 279,299UniSTS
GeneMap99-GB4 RH Map182.72UniSTS
SHGC-83651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718416,219 - 416,496UniSTSGRCh37
Build 3618406,219 - 406,496RGDNCBI36
Celera18291,359 - 291,636RGD
Cytogenetic Map18pter-p11.3UniSTS
HuRef18376,008 - 376,285UniSTS
G62465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718332,188 - 332,485UniSTSGRCh37
Build 3618322,188 - 322,485RGDNCBI36
Celera18207,344 - 207,641RGD
Cytogenetic Map18pter-p11.3UniSTS
HuRef18291,979 - 292,276UniSTS
D18S170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718441,983 - 442,159UniSTSGRCh37
Build 3618431,983 - 432,159RGDNCBI36
Celera18317,119 - 317,295RGD
Cytogenetic Map18pter-p11.3UniSTS
D5S1951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718345,830 - 345,912UniSTSGRCh37
Build 3618335,830 - 335,912RGDNCBI36
Celera18220,977 - 221,059RGD
Cytogenetic Map18pter-p11.3UniSTS
HuRef18305,619 - 305,701UniSTS
D18S546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718354,965 - 355,137UniSTSGRCh37
Build 3618344,965 - 345,137RGDNCBI36
Celera18230,112 - 230,284RGD
Cytogenetic Map18pter-p11.3UniSTS
HuRef18314,755 - 314,927UniSTS
Whitehead-YAC Contig Map18 UniSTS
COLEC12_4615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718319,491 - 319,996UniSTSGRCh37
Build 3618309,491 - 309,996RGDNCBI36
Celera18194,642 - 195,147RGD
HuRef18279,272 - 279,777UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1376 1006 580 73 136 13 1948 824 1162 90 551 1185 62 1133 1081 4
Low 965 1317 769 233 743 131 2342 1335 2518 268 842 316 107 1 71 1679 1
Below cutoff 94 644 352 292 943 297 66 38 52 58 64 109 5 28

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA903451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB005145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB034251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB038518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB052103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB473908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000400256   ⟹   ENSP00000383115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18316,737 - 500,701 (-)Ensembl
RefSeq Acc Id: ENST00000580242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18316,740 - 317,366 (-)Ensembl
RefSeq Acc Id: ENST00000582147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18319,361 - 500,722 (-)Ensembl
RefSeq Acc Id: NM_130386   ⟹   NP_569057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818316,737 - 500,701 (-)NCBI
GRCh3718319,355 - 500,729 (-)ENTREZGENE
Build 3618309,356 - 490,685 (-)NCBI Archive
HuRef18279,136 - 440,551 (-)ENTREZGENE
CHM1_118318,475 - 499,849 (-)NCBI
T2T-CHM13v2.018470,846 - 654,740 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525741   ⟹   XP_011524043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818316,737 - 500,701 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054319231   ⟹   XP_054175206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018470,846 - 654,740 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_569057   ⟸   NM_130386
- UniProtKB: Q9BY85 (UniProtKB/Swiss-Prot),   Q8WZA4 (UniProtKB/Swiss-Prot),   Q8TCR2 (UniProtKB/Swiss-Prot),   Q6P9F2 (UniProtKB/Swiss-Prot),   Q5KU26 (UniProtKB/Swiss-Prot),   Q9BYH7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011524043   ⟸   XM_011525741
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000383115   ⟸   ENST00000400256
RefSeq Acc Id: XP_054175206   ⟸   XM_054319231
- Peptide Label: isoform X1
Protein Domains
C-type lectin   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5KU26-F1-model_v2 AlphaFold Q5KU26 1-742 view protein structure

Promoters
RGD ID:7236799
Promoter ID:EPDNEW_H24145
Type:initiation region
Name:COLEC12_1
Description:collectin subfamily member 12
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
GRCh3818500,701 - 500,761EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16016 AgrOrtholog
COSMIC COLEC12 COSMIC
Ensembl Genes ENSG00000158270 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400256 ENTREZGENE
  ENST00000400256.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000158270 GTEx
HGNC ID HGNC:16016 ENTREZGENE
Human Proteome Map COLEC12 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot
  C-type_lectin_CS UniProtKB/Swiss-Prot
  CD209-like_CTLD UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
  CTDL_fold UniProtKB/Swiss-Prot
KEGG Report hsa:81035 UniProtKB/Swiss-Prot
NCBI Gene 81035 ENTREZGENE
OMIM 607621 OMIM
PANTHER COLLECTIN-12 UniProtKB/Swiss-Prot
  MANNOSE, PHOSPHOLIPASE, LECTIN RECEPTOR RELATED UniProtKB/Swiss-Prot
Pfam Collagen UniProtKB/Swiss-Prot
  Lectin_C UniProtKB/Swiss-Prot
PharmGKB PA26738 PharmGKB
PROSITE C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot
SMART CLECT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot
UniProt COL12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P9F2 ENTREZGENE
  Q8TCR2 ENTREZGENE
  Q8WZA4 ENTREZGENE
  Q9BY85 ENTREZGENE
  Q9BYH7 ENTREZGENE
UniProt Secondary Q6P9F2 UniProtKB/Swiss-Prot
  Q8TCR2 UniProtKB/Swiss-Prot
  Q8WZA4 UniProtKB/Swiss-Prot
  Q9BY85 UniProtKB/Swiss-Prot
  Q9BYH7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 COLEC12  collectin subfamily member 12    collectin sub-family member 12  Symbol and/or name change 5135510 APPROVED