L3MBTL4 (L3MBTL histone methyl-lysine binding protein 4) - Rat Genome Database

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Gene: L3MBTL4 (L3MBTL histone methyl-lysine binding protein 4) Homo sapiens
Analyze
Symbol: L3MBTL4
Name: L3MBTL histone methyl-lysine binding protein 4
RGD ID: 1353313
HGNC Page HGNC:26677
Description: Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: H-l(3)mbt-like protein 4; HsT1031; l(3)mbt-like 4; l(3)mbt-like 4 (Drosophila); l(3)mbt-like protein 4; L3mbt-like 4; lethal(3)malignant brain tumor-like protein 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38185,954,717 - 6,415,259 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl185,954,706 - 6,415,237 (-)EnsemblGRCh38hg38GRCh38
GRCh37185,954,716 - 6,415,258 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36185,944,705 - 6,404,910 (-)NCBINCBI36Build 36hg18NCBI36
Build 34186,019,387 - 6,404,901NCBI
Celera185,840,619 - 6,300,202 (-)NCBICelera
Cytogenetic Map18p11.31NCBI
HuRef185,917,699 - 6,377,686 (-)NCBIHuRef
CHM1_1185,954,318 - 6,414,390 (-)NCBICHM1_1
T2T-CHM13v2.0186,114,833 - 6,575,726 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:2444974   PMID:8889548   PMID:14702039   PMID:19913121   PMID:20379614   PMID:20628086   PMID:20694011   PMID:20698951   PMID:21832049   PMID:21873635   PMID:23728906   PMID:24981860  
PMID:25416956   PMID:27480026   PMID:27705803   PMID:30745168   PMID:32296183  


Genomics

Comparative Map Data
L3MBTL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38185,954,717 - 6,415,259 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl185,954,706 - 6,415,237 (-)EnsemblGRCh38hg38GRCh38
GRCh37185,954,716 - 6,415,258 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36185,944,705 - 6,404,910 (-)NCBINCBI36Build 36hg18NCBI36
Build 34186,019,387 - 6,404,901NCBI
Celera185,840,619 - 6,300,202 (-)NCBICelera
Cytogenetic Map18p11.31NCBI
HuRef185,917,699 - 6,377,686 (-)NCBIHuRef
CHM1_1185,954,318 - 6,414,390 (-)NCBICHM1_1
T2T-CHM13v2.0186,114,833 - 6,575,726 (-)NCBIT2T-CHM13v2.0
L3mbtl4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391768,579,893 - 69,091,073 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1768,580,792 - 69,087,081 (+)EnsemblGRCm39 Ensembl
GRCm381768,272,898 - 68,784,078 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1768,273,797 - 68,780,086 (+)EnsemblGRCm38mm10GRCm38
MGSCv371768,623,137 - 69,129,426 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361768,178,772 - 68,362,805 (+)NCBIMGSCv36mm8
Celera1772,576,513 - 73,076,762 (+)NCBICelera
Cytogenetic Map17E1.2- E1.3NCBI
cM Map1739.3NCBI
L3mbtl4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89115,741,720 - 116,194,592 (+)NCBIGRCr8
mRatBN7.29108,295,004 - 108,747,879 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9108,329,669 - 108,747,774 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.09116,709,302 - 116,983,017 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9116,652,530 - 116,981,172 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.09115,999,134 - 116,170,591 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.09116,192,612 - 116,461,687 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49107,894,242 - 107,909,187 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera9105,450,623 - 105,904,786 (+)NCBICelera
Cytogenetic Map9q38NCBI
L3mbtl4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554024,927,453 - 5,168,415 (+)NCBIChiLan1.0ChiLan1.0
L3MBTL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21732,028,188 - 32,504,434 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11817,720,786 - 18,197,249 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0187,861,424 - 8,338,011 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11810,295,969 - 10,656,472 (+)NCBIpanpan1.1PanPan1.1panPan2
L3MBTL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1772,305,146 - 72,799,146 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl772,306,159 - 72,691,255 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha771,764,806 - 71,778,943 (-)NCBIDog10K_Boxer_Tasha
Dog10K_Boxer_Tasha771,858,987 - 72,205,737 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0772,364,138 - 72,863,107 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl772,363,588 - 72,832,900 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1772,068,290 - 72,567,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0772,098,228 - 72,595,437 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0772,390,216 - 72,889,730 (-)NCBIUU_Cfam_GSD_1.0
L3mbtl4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494468,642,598 - 69,020,205 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936779234,634 - 454,418 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936779192,852 - 570,881 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
L3MBTL4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11865,029,701 - 65,471,816 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1865,029,713 - 65,471,137 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605039,932,334 - 40,373,639 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in L3MBTL4
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 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 18p11.32-11.22(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 18p11.32-11.21(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
GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1 copy number loss See cases [RCV000053788] Chr18:2547398..6694867 [GRCh38]
Chr18:2547397..6694866 [GRCh37]
Chr18:2537397..6684866 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
NM_173464.3(L3MBTL4):c.1050G>A (p.Pro350=) single nucleotide variant Malignant melanoma [RCV000071881] Chr18:6171874 [GRCh38]
Chr18:6171873 [GRCh37]
Chr18:6161873 [NCBI36]
Chr18:18p11.31		 not provided
NM_173464.3(L3MBTL4):c.1124G>A (p.Gly375Asp) single nucleotide variant Malignant melanoma [RCV000063405] Chr18:6138269 [GRCh38]
Chr18:6138268 [GRCh37]
Chr18:6128268 [NCBI36]
Chr18:18p11.31		 not provided
NM_173464.3(L3MBTL4):c.809C>T (p.Ser270Phe) single nucleotide variant Malignant melanoma [RCV000063407] Chr18:6215811 [GRCh38]
Chr18:6215810 [GRCh37]
Chr18:6205810 [NCBI36]
Chr18:18p11.31		 not provided
NM_173464.3(L3MBTL4):c.1097-520A>G single nucleotide variant Lung cancer [RCV000100922] Chr18:6138816 [GRCh38]
Chr18:6138815 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_173464.3(L3MBTL4):c.128-17801A>G single nucleotide variant Lung cancer [RCV000100929] Chr18:6281839 [GRCh38]
Chr18:6281838 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_173464.3(L3MBTL4):c.-90-15047C>T single nucleotide variant Lung cancer [RCV000100935] Chr18:6327103 [GRCh38]
Chr18:6327102 [GRCh37]
Chr18:18p11.31		 uncertain significance
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 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
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 18p11.32-11.21(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-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 18p11.31(chr18:5839721-6161831)x1 copy number loss See cases [RCV000138720] Chr18:5839721..6161831 [GRCh38]
Chr18:5839720..6161830 [GRCh37]
Chr18:5829720..6151830 [NCBI36]
Chr18:18p11.31		 likely pathogenic|uncertain significance
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 18p11.31-11.23(chr18:6299210-7244644)x3 copy number gain See cases [RCV000139425] Chr18:6299210..7244644 [GRCh38]
Chr18:6299209..7244642 [GRCh37]
Chr18:6289209..7234642 [NCBI36]
Chr18:18p11.31-11.23		 uncertain significance
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 18p11.32-11.21(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 18p11.32-11.21(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 18p11.31(chr18:5958575-6596682)x3 copy number gain See cases [RCV000142293] Chr18:5958575..6596682 [GRCh38]
Chr18:5958574..6596681 [GRCh37]
Chr18:5948574..6586681 [NCBI36]
Chr18:18p11.31		 likely benign|conflicting data from submitters
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 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
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-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 18p11.32-11.21(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 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(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 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 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-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-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.31-11.23(chr18:5000126-7135797)x1 copy number loss See cases [RCV000510579] Chr18:5000126..7135797 [GRCh37]
Chr18:18p11.31-11.23		 uncertain significance
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3 copy number gain See cases [RCV000511962] Chr18:2737126..9660466 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
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 18p11.32-11.21(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 18p11.32-11.21(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(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [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
Single allele duplication not provided [RCV000677916] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22		 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(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [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-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-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 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001330559.2(L3MBTL4):c.1159A>G (p.Ile387Val) single nucleotide variant Inborn genetic diseases [RCV003268349] Chr18:6138234 [GRCh38]
Chr18:6138233 [GRCh37]
Chr18:18p11.31		 uncertain significance
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-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
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_001330559.2(L3MBTL4):c.1255G>A (p.Asp419Asn) single nucleotide variant Inborn genetic diseases [RCV003293124] Chr18:6093473 [GRCh38]
Chr18:6093472 [GRCh37]
Chr18:18p11.31		 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(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [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 18p11.31(chr18:6357138-6790732)x3 copy number gain See cases [RCV001194538] Chr18:6357138..6790732 [GRCh37]
Chr18:18p11.31		 uncertain significance
GRCh37/hg19 18p11.31(chr18:6349881-6834388)x3 copy number gain not provided [RCV001006935] Chr18:6349881..6834388 [GRCh37]
Chr18:18p11.31		 likely benign
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 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
NC_000018.10:g.6335543_6430945dup duplication Megacolon [RCV001290064] Chr18:6335542..6335543 [GRCh38]
Chr18:6335541..6335542 [GRCh37]
Chr18:18p11.31		 uncertain significance
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
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
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 18p11.32-11.21(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(chr18:136226-15198990) 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 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499) copy number loss not specified [RCV002052609] Chr18:136226..6103499 [GRCh37]
Chr18:18p11.32-11.31		 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(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 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 18p11.31-11.23(chr18:3532742-7487522) copy number gain not specified [RCV002052618] Chr18:3532742..7487522 [GRCh37]
Chr18:18p11.31-11.23		 pathogenic
NM_001330559.2(L3MBTL4):c.1819G>A (p.Ala607Thr) single nucleotide variant Inborn genetic diseases [RCV003253573] Chr18:5956246 [GRCh38]
Chr18:5956245 [GRCh37]
Chr18:18p11.31		 uncertain significance
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 18p11.32-11.23(chr18:136226-7131132) copy number loss Deletion of short arm of chromosome 18 [RCV002280711] Chr18:136226..7131132 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
NM_001330559.2(L3MBTL4):c.267A>C (p.Arg89Ser) single nucleotide variant Inborn genetic diseases [RCV003280519] Chr18:6244541 [GRCh38]
Chr18:6244540 [GRCh37]
Chr18:18p11.31		 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 18p11.31(chr18:3824312-6983454)x1 copy number loss not provided [RCV002474913] Chr18:3824312..6983454 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.418G>A (p.Gly140Arg) single nucleotide variant Inborn genetic diseases [RCV002905716] Chr18:6243336 [GRCh38]
Chr18:6243335 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.103G>A (p.Asp35Asn) single nucleotide variant Inborn genetic diseases [RCV002841561] Chr18:6301927 [GRCh38]
Chr18:6301926 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.551C>T (p.Pro184Leu) single nucleotide variant Inborn genetic diseases [RCV002974093] Chr18:6241359 [GRCh38]
Chr18:6241358 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1117C>A (p.Leu373Ile) single nucleotide variant Inborn genetic diseases [RCV002734183] Chr18:6138276 [GRCh38]
Chr18:6138275 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.304T>A (p.Cys102Ser) single nucleotide variant Inborn genetic diseases [RCV002682055] Chr18:6244504 [GRCh38]
Chr18:6244503 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.785G>A (p.Gly262Asp) single nucleotide variant Inborn genetic diseases [RCV002924515] Chr18:6215835 [GRCh38]
Chr18:6215834 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.644C>T (p.Ala215Val) single nucleotide variant Inborn genetic diseases [RCV003000355] Chr18:6239781 [GRCh38]
Chr18:6239780 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1534G>T (p.Gly512Cys) single nucleotide variant Inborn genetic diseases [RCV002925535] Chr18:5969473 [GRCh38]
Chr18:5969472 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1499C>T (p.Thr500Met) single nucleotide variant Inborn genetic diseases [RCV002869183] Chr18:5969508 [GRCh38]
Chr18:5969507 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.459G>C (p.Lys153Asn) single nucleotide variant Inborn genetic diseases [RCV002915632] Chr18:6243295 [GRCh38]
Chr18:6243294 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.188C>T (p.Ala63Val) single nucleotide variant Inborn genetic diseases [RCV002984333] Chr18:6263978 [GRCh38]
Chr18:6263977 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.502G>T (p.Ala168Ser) single nucleotide variant Inborn genetic diseases [RCV002916657] Chr18:6241408 [GRCh38]
Chr18:6241407 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.374A>G (p.Tyr125Cys) single nucleotide variant Inborn genetic diseases [RCV002850378] Chr18:6243380 [GRCh38]
Chr18:6243379 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.404A>G (p.Asp135Gly) single nucleotide variant Inborn genetic diseases [RCV002874812] Chr18:6243350 [GRCh38]
Chr18:6243349 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.151G>T (p.Ala51Ser) single nucleotide variant Inborn genetic diseases [RCV002697100] Chr18:6264015 [GRCh38]
Chr18:6264014 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1112A>C (p.Lys371Thr) single nucleotide variant Inborn genetic diseases [RCV002813244] Chr18:6138281 [GRCh38]
Chr18:6138280 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1421T>C (p.Ile474Thr) single nucleotide variant Inborn genetic diseases [RCV002940465] Chr18:6080904 [GRCh38]
Chr18:6080903 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1340A>G (p.Asn447Ser) single nucleotide variant Inborn genetic diseases [RCV002670685] Chr18:6093388 [GRCh38]
Chr18:6093387 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1694C>T (p.Ala565Val) single nucleotide variant Inborn genetic diseases [RCV002747873] Chr18:5956371 [GRCh38]
Chr18:5956370 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1166A>G (p.His389Arg) single nucleotide variant Inborn genetic diseases [RCV003198467] Chr18:6138227 [GRCh38]
Chr18:6138226 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1801C>T (p.Leu601Phe) single nucleotide variant Inborn genetic diseases [RCV003205626] Chr18:5956264 [GRCh38]
Chr18:5956263 [GRCh37]
Chr18:18p11.31		 uncertain significance
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
NM_001330559.2(L3MBTL4):c.899T>C (p.Met300Thr) single nucleotide variant Inborn genetic diseases [RCV003285711] Chr18:6213231 [GRCh38]
Chr18:6213230 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.1181G>A (p.Arg394His) single nucleotide variant Inborn genetic diseases [RCV003356732] Chr18:6138212 [GRCh38]
Chr18:6138211 [GRCh37]
Chr18:18p11.31		 uncertain significance
NM_001330559.2(L3MBTL4):c.803A>T (p.Asn268Ile) single nucleotide variant Inborn genetic diseases [RCV003366089] Chr18:6215817 [GRCh38]
Chr18:6215816 [GRCh37]
Chr18:18p11.31		 uncertain significance
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
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 18p11.31-11.23(chr18:5689219-7964689)x3 copy number gain not provided [RCV003485171] Chr18:5689219..7964689 [GRCh37]
Chr18:18p11.31-11.23		 uncertain significance
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(chr18:136227-15157836)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 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 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:4219
Count of miRNA genes:1091
Interacting mature miRNAs:1324
Transcripts:ENST00000284898, ENST00000317931, ENST00000400104, ENST00000400105, ENST00000535782, ENST00000578677, ENST00000580162, ENST00000581231, ENST00000583054, ENST00000583809
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.

Markers in Region
D18S471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,981,902 - 5,982,152UniSTSGRCh37
Build 36185,971,902 - 5,972,152RGDNCBI36
Celera185,867,781 - 5,868,033RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,944,811 - 5,945,063UniSTS
Marshfield Genetic Map1818.7RGD
Marshfield Genetic Map1818.7UniSTS
Genethon Genetic Map1817.7UniSTS
deCODE Assembly Map1818.37UniSTS
GeneMap99-GB4 RH Map1840.51UniSTS
Whitehead-RH Map1828.1UniSTS
Whitehead-YAC Contig Map18 UniSTS
L18017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,065,339 - 6,065,644UniSTSGRCh37
GRCh37231,896,665 - 31,897,019UniSTSGRCh37
Build 36231,750,169 - 31,750,523RGDNCBI36
Celera185,951,220 - 5,951,525UniSTS
Celera231,737,895 - 31,738,249RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,028,247 - 6,028,552UniSTS
HuRef231,632,597 - 31,632,951UniSTS
A009W18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,076,833 - 6,077,012UniSTSGRCh37
Build 36186,066,833 - 6,067,012RGDNCBI36
Celera185,962,720 - 5,962,899RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,039,745 - 6,039,924UniSTS
GeneMap99-GB4 RH Map1840.51UniSTS
RH36215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,024,553 - 6,024,653UniSTSGRCh37
Build 36186,014,553 - 6,014,653RGDNCBI36
Celera185,910,435 - 5,910,535RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,987,453 - 5,987,553UniSTS
GeneMap99-GB4 RH Map1842.74UniSTS
AFM238YG3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,150,383 - 6,150,675UniSTSGRCh37
Build 36186,140,383 - 6,140,675RGDNCBI36
Celera186,036,352 - 6,036,644RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,113,250 - 6,113,542UniSTS
Whitehead-YAC Contig Map18 UniSTS
SHGC-34628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,301,888 - 6,302,012UniSTSGRCh37
Build 36186,291,888 - 6,292,012RGDNCBI36
Celera186,187,190 - 6,187,314RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,265,011 - 6,265,135UniSTS
GeneMap99-G3 RH Map18129.0UniSTS
SHGC-77812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,279,144 - 6,279,334UniSTSGRCh37
Build 36186,269,144 - 6,269,334RGDNCBI36
Celera186,164,292 - 6,164,482RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,242,292 - 6,242,482UniSTS
TNG Radiation Hybrid Map183338.0UniSTS
SHGC-83006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,106,172 - 6,106,463UniSTSGRCh37
Build 36186,096,172 - 6,096,463RGDNCBI36
Celera185,992,140 - 5,992,431RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,069,038 - 6,069,329UniSTS
TNG Radiation Hybrid Map183427.0UniSTS
SHGC-78662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,279,126 - 6,279,326UniSTSGRCh37
Build 36186,269,126 - 6,269,326RGDNCBI36
Celera186,164,274 - 6,164,474RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,242,274 - 6,242,474UniSTS
TNG Radiation Hybrid Map183350.0UniSTS
D18S936E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,969,388 - 5,969,505UniSTSGRCh37
Build 36185,959,388 - 5,959,505RGDNCBI36
Celera185,855,309 - 5,855,426RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,932,334 - 5,932,451UniSTS
SHGC-141820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,961,745 - 5,962,080UniSTSGRCh37
Build 36185,951,745 - 5,952,080RGDNCBI36
Celera185,847,661 - 5,847,996RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,924,686 - 5,925,021UniSTS
TNG Radiation Hybrid Map182913.0UniSTS
SHGC-2285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,981,943 - 5,982,046UniSTSGRCh37
Build 36185,971,943 - 5,972,046RGDNCBI36
Celera185,867,822 - 5,867,927RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,944,852 - 5,944,957UniSTS
TNG Radiation Hybrid Map183003.0UniSTS
D18S981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,405,236 - 6,405,416UniSTSGRCh37
Build 36186,395,236 - 6,395,416RGDNCBI36
Celera186,290,527 - 6,290,707RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,368,011 - 6,368,191UniSTS
Whitehead-RH Map1828.1UniSTS
Whitehead-YAC Contig Map18 UniSTS
WI-14891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,987,836 - 5,987,961UniSTSGRCh37
Build 36185,977,836 - 5,977,961RGDNCBI36
Celera185,873,717 - 5,873,842RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,950,747 - 5,950,872UniSTS
GeneMap99-GB4 RH Map1842.85UniSTS
Whitehead-RH Map1828.1UniSTS
G18042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,990,690 - 5,990,930UniSTSGRCh37
Build 36185,980,690 - 5,980,930RGDNCBI36
Celera185,876,571 - 5,876,811RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,953,601 - 5,953,841UniSTS
G31015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,989,205 - 5,989,345UniSTSGRCh37
Build 36185,979,205 - 5,979,345RGDNCBI36
Celera185,875,086 - 5,875,226RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,952,116 - 5,952,256UniSTS
A004U39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,954,798 - 5,954,919UniSTSGRCh37
Build 36185,944,798 - 5,944,919RGDNCBI36
Celera185,840,712 - 5,840,833RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,917,792 - 5,917,913UniSTS
GeneMap99-GB4 RH Map1842.85UniSTS
Whitehead-RH Map1828.1UniSTS
A006W22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,989,180 - 5,989,321UniSTSGRCh37
Build 36185,979,180 - 5,979,321RGDNCBI36
Celera185,875,061 - 5,875,202RGD
Cytogenetic Map18p11.31UniSTS
HuRef185,952,091 - 5,952,232UniSTS
GeneMap99-GB4 RH Map1837.16UniSTS
RH16507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,301,908 - 6,302,097UniSTSGRCh37
Build 36186,291,908 - 6,292,097RGDNCBI36
Celera186,187,210 - 6,187,399RGD
Cytogenetic Map18p11.31UniSTS
HuRef186,265,031 - 6,265,220UniSTS
GeneMap99-GB4 RH Map1842.64UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
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Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,076,833 - 6,077,012UniSTSGRCh37
Celera185,962,720 - 5,962,899UniSTS
Cytogenetic Map18p11.31UniSTS
HuRef186,039,745 - 6,039,924UniSTS
AGAT060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,313,943 - 6,314,220UniSTSGRCh37
Celera186,199,244 - 6,199,517UniSTS
HuRef186,276,981 - 6,277,258UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 5 2 25 2 10 1 2 7 140 33 4
Low 1848 1474 1693 607 1052 444 3404 594 3078 373 1216 1473 166 1 1200 1895 1 2
Below cutoff 524 1508 14 8 758 10 929 1577 631 30 60 43 5 4 889 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK026733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313345 (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
  DB455331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317931   ⟹   ENSP00000318543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl185,954,717 - 6,414,911 (-)Ensembl
RefSeq Acc Id: ENST00000400104   ⟹   ENSP00000382975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,029,387 - 6,414,911 (-)Ensembl
RefSeq Acc Id: ENST00000400105   ⟹   ENSP00000382976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl185,954,706 - 6,367,683 (-)Ensembl
RefSeq Acc Id: ENST00000578677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,356,709 - 6,367,676 (-)Ensembl
RefSeq Acc Id: ENST00000580162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,311,600 - 6,414,184 (-)Ensembl
RefSeq Acc Id: ENST00000581231   ⟹   ENSP00000462295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,244,567 - 6,415,237 (-)Ensembl
RefSeq Acc Id: ENST00000583054   ⟹   ENSP00000463600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,239,799 - 6,326,721 (-)Ensembl
RefSeq Acc Id: ENST00000583809   ⟹   ENSP00000462090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl186,243,386 - 6,414,798 (-)Ensembl
RefSeq Acc Id: NM_001330559   ⟹   NP_001317488
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365765   ⟹   NP_001352694
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,415,259 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,726 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365766   ⟹   NP_001352695
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,079,805 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,239,879 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365767   ⟹   NP_001352696
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,029,384 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,189,459 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365768   ⟹   NP_001352697
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365769   ⟹   NP_001352698
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365770   ⟹   NP_001352699
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,367,683 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,528,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173464   ⟹   NP_775735
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
GRCh37185,954,705 - 6,414,910 (-)RGD
Build 36185,944,705 - 6,404,910 (-)NCBI Archive
Celera185,840,619 - 6,300,202 (-)RGD
HuRef185,917,699 - 6,377,686 (-)RGD
CHM1_1185,954,318 - 6,414,390 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158609
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158610
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158611
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,359,030 (-)NCBI
T2T-CHM13v2.0186,114,833 - 6,519,494 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722364   ⟹   XP_006722427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,077,500 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525757   ⟹   XP_011524059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525758   ⟹   XP_011524060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,367,683 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525759   ⟹   XP_011524061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525760   ⟹   XP_011524062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525762   ⟹   XP_011524064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,049,945 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525763   ⟹   XP_011524065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,079,805 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525767   ⟹   XP_011524069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,223,791 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026074   ⟹   XP_016881563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026077   ⟹   XP_016881566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,159,886 - 6,414,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437914   ⟹   XP_047293870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,415,259 (-)NCBI
RefSeq Acc Id: XM_047437915   ⟹   XP_047293871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,329,133 (-)NCBI
RefSeq Acc Id: XM_047437916   ⟹   XP_047293872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,359,030 (-)NCBI
RefSeq Acc Id: XM_047437917   ⟹   XP_047293873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,616 (-)NCBI
RefSeq Acc Id: XM_047437918   ⟹   XP_047293874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,359,030 (-)NCBI
RefSeq Acc Id: XM_047437919   ⟹   XP_047293875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,414,911 (-)NCBI
RefSeq Acc Id: XM_047437920   ⟹   XP_047293876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,954,717 - 6,359,030 (-)NCBI
RefSeq Acc Id: XM_054319327   ⟹   XP_054175302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319328   ⟹   XP_054175303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,726 (-)NCBI
RefSeq Acc Id: XM_054319329   ⟹   XP_054175304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,528,147 (-)NCBI
RefSeq Acc Id: XM_054319330   ⟹   XP_054175305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,489,596 (-)NCBI
RefSeq Acc Id: XM_054319331   ⟹   XP_054175306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,519,494 (-)NCBI
RefSeq Acc Id: XM_054319332   ⟹   XP_054175307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319333   ⟹   XP_054175308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319334   ⟹   XP_054175309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,041 (-)NCBI
RefSeq Acc Id: XM_054319335   ⟹   XP_054175310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,519,494 (-)NCBI
RefSeq Acc Id: XM_054319336   ⟹   XP_054175311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319337   ⟹   XP_054175312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319338   ⟹   XP_054175313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,209,904 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319339   ⟹   XP_054175314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,239,043 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319340   ⟹   XP_054175315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,519,494 (-)NCBI
RefSeq Acc Id: XM_054319341   ⟹   XP_054175316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,235,538 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319342   ⟹   XP_054175317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,320,042 - 6,575,378 (-)NCBI
RefSeq Acc Id: XM_054319343   ⟹   XP_054175318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,114,833 - 6,383,908 (-)NCBI
RefSeq Acc Id: XR_007066252
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,159,886 - 6,414,911 (-)NCBI
RefSeq Acc Id: XR_007066253
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,159,886 - 6,415,259 (-)NCBI
RefSeq Acc Id: XR_008485032
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,320,042 - 6,575,378 (-)NCBI
RefSeq Acc Id: XR_008485033
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,320,042 - 6,575,726 (-)NCBI
RefSeq Acc Id: XR_008485034
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0186,320,042 - 6,575,378 (-)NCBI
RefSeq Acc Id: XR_935072
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,159,886 - 6,414,911 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001317488 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352694 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352695 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352696 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352697 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352698 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352699 (Get FASTA)   NCBI Sequence Viewer  
  NP_775735 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722427 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524059 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524060 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524061 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524062 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524064 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524065 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524069 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881563 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881566 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293870 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293871 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293873 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293875 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175311 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175314 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175315 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175316 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175317 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175318 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39316 (Get FASTA)   NCBI Sequence Viewer  
  BAC04111 (Get FASTA)   NCBI Sequence Viewer  
  BAG52277 (Get FASTA)   NCBI Sequence Viewer  
  EAX01639 (Get FASTA)   NCBI Sequence Viewer  
  EAX01640 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318543
  ENSP00000318543.7
  ENSP00000382975
  ENSP00000382975.3
  ENSP00000382976
  ENSP00000382976.2
  ENSP00000462090.1
  ENSP00000462295.1
  ENSP00000463600.1
GenBank Protein Q8NA19 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775735   ⟸   NM_173464
- Peptide Label: isoform 1
- UniProtKB: A8MTL8 (UniProtKB/Swiss-Prot),   Q8IXS3 (UniProtKB/Swiss-Prot),   Q8NA19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722427   ⟸   XM_006722364
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011524062   ⟸   XM_011525760
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524059   ⟸   XM_011525757
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524061   ⟸   XM_011525759
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524060   ⟸   XM_011525758
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524069   ⟸   XM_011525767
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011524064   ⟸   XM_011525762
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011524065   ⟸   XM_011525763
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016881563   ⟸   XM_017026074
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016881566   ⟸   XM_017026077
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001317488   ⟸   NM_001330559
- Peptide Label: isoform 2
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352694   ⟸   NM_001365765
- Peptide Label: isoform 2
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352697   ⟸   NM_001365768
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001352698   ⟸   NM_001365769
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001352699   ⟸   NM_001365770
- Peptide Label: isoform 1
- UniProtKB: Q8NA19 (UniProtKB/Swiss-Prot),   A8MTL8 (UniProtKB/Swiss-Prot),   Q8IXS3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001352696   ⟸   NM_001365767
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001352695   ⟸   NM_001365766
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000462295   ⟸   ENST00000581231
RefSeq Acc Id: ENSP00000463600   ⟸   ENST00000583054
RefSeq Acc Id: ENSP00000462090   ⟸   ENST00000583809
RefSeq Acc Id: ENSP00000382975   ⟸   ENST00000400104
RefSeq Acc Id: ENSP00000382976   ⟸   ENST00000400105
RefSeq Acc Id: ENSP00000318543   ⟸   ENST00000317931
RefSeq Acc Id: XP_047293870   ⟸   XM_047437914
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293875   ⟸   XM_047437919
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293873   ⟸   XM_047437917
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293876   ⟸   XM_047437920
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047293874   ⟸   XM_047437918
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293872   ⟸   XM_047437916
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293871   ⟸   XM_047437915
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175303   ⟸   XM_054319328
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175312   ⟸   XM_054319337
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054175308   ⟸   XM_054319333
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175302   ⟸   XM_054319327
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175311   ⟸   XM_054319336
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175307   ⟸   XM_054319332
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175309   ⟸   XM_054319334
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175304   ⟸   XM_054319329
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175315   ⟸   XM_054319340
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054175310   ⟸   XM_054319335
- Peptide Label: isoform X3
- UniProtKB: F8W9S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175306   ⟸   XM_054319331
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175305   ⟸   XM_054319330
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175318   ⟸   XM_054319343
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054175313   ⟸   XM_054319338
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054175316   ⟸   XM_054319341
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054175314   ⟸   XM_054319339
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054175317   ⟸   XM_054319342
- Peptide Label: isoform X9
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NA19-F1-model_v2 AlphaFold Q8NA19 1-623 view protein structure

Promoters
RGD ID:6811429
Promoter ID:HG_ACW:37236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:L3MBTL4.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36186,403,681 - 6,404,181 (-)MPROMDB
RGD ID:6794901
Promoter ID:HG_KWN:27552
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000317931,   NM_173464,   OTTHUMT00000254447
Position:
Human AssemblyChrPosition (strand)Source
Build 36186,404,426 - 6,405,117 (-)MPROMDB
RGD ID:7236871
Promoter ID:EPDNEW_H24182
Type:initiation region
Name:L3MBTL4_1
Description:lmbt-like 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24183  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,414,907 - 6,414,967EPDNEW
RGD ID:7236875
Promoter ID:EPDNEW_H24183
Type:initiation region
Name:L3MBTL4_2
Description:lmbt-like 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24182  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,415,237 - 6,415,297EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26677 AgrOrtholog
COSMIC L3MBTL4 COSMIC
Ensembl Genes ENSG00000154655 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317931 ENTREZGENE
  ENST00000317931.12 UniProtKB/TrEMBL
  ENST00000400104 ENTREZGENE
  ENST00000400104.7 UniProtKB/Swiss-Prot
  ENST00000400105 ENTREZGENE
  ENST00000400105.6 UniProtKB/Swiss-Prot
  ENST00000581231.5 UniProtKB/TrEMBL
  ENST00000583054.5 UniProtKB/TrEMBL
  ENST00000583809.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.30.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.320.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154655 GTEx
HGNC ID HGNC:26677 ENTREZGENE
Human Proteome Map L3MBTL4 Human Proteome Map
InterPro Mbt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91133 UniProtKB/Swiss-Prot
NCBI Gene 91133 ENTREZGENE
OMIM 617135 OMIM
PANTHER LETHAL(3)MALIGNANT BRAIN TUMOR-LIKE PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYCOMB GROUP PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2HC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134935795 PharmGKB
PROSITE MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CCHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MTL8 ENTREZGENE
  F8W9S8 ENTREZGENE, UniProtKB/TrEMBL
  J3KRN7_HUMAN UniProtKB/TrEMBL
  J3KS41_HUMAN UniProtKB/TrEMBL
  J3QLK8_HUMAN UniProtKB/TrEMBL
  LMBL4_HUMAN UniProtKB/Swiss-Prot
  Q8IXS3 ENTREZGENE
  Q8NA19 ENTREZGENE
UniProt Secondary A8MTL8 UniProtKB/Swiss-Prot
  Q8IXS3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 L3MBTL4  L3MBTL histone methyl-lysine binding protein 4    L3MBTL4, histone methyl-lysine binding protein  Symbol and/or name change 5135510 APPROVED
2017-05-30 L3MBTL4  L3MBTL4, histone methyl-lysine binding protein    l(3)mbt-like 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED