LAS1L (LAS1 like ribosome biogenesis factor) - Rat Genome Database

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Gene: LAS1L (LAS1 like ribosome biogenesis factor) Homo sapiens
Analyze
Symbol: LAS1L
Name: LAS1 like ribosome biogenesis factor
RGD ID: 1354295
HGNC Page HGNC
Description: Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in membrane. Part of MLL1 complex. Implicated in Wilson-Turner syndrome; INTERACTS WITH acrylamide; benzo[a]pyrene; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: dJ475B7.2; FLJ12525; FLJ30133; FLJ45274; Las1; LAS1 like, ribosome biogenesis factor; Las1-like; LAS1-like, ribosome biogenesis factor; MRXSWTS; protein LAS1 homolog; ribosomal biogenesis protein LAS1L; RP3-475B7.2; WTS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX65,438,549 - 65,534,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38X65,512,582 - 65,534,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,732,462 - 64,754,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,649,191 - 64,671,392 (-)NCBINCBI36hg18NCBI36
Build 34X64,515,488 - 64,537,688NCBI
CeleraX65,079,606 - 65,101,830 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX58,560,622 - 58,582,851 (-)NCBIHuRef
CHM1_1X64,625,528 - 64,647,714 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:12429849   PMID:14702039   PMID:15489334   PMID:15635413   PMID:15772651   PMID:16196087   PMID:16344560   PMID:16964243   PMID:17353931   PMID:18029348   PMID:19394292  
PMID:19946888   PMID:20442285   PMID:20467437   PMID:20647540   PMID:21139048   PMID:21145461   PMID:21282530   PMID:21549307   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094  
PMID:21987572   PMID:22046132   PMID:22083961   PMID:22190735   PMID:22505724   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22872859   PMID:22939629   PMID:22990118   PMID:23443559  
PMID:23667531   PMID:24457600   PMID:24711643   PMID:24778252   PMID:24981860   PMID:25147182   PMID:25315684   PMID:25665578   PMID:25693804   PMID:25921289   PMID:26344197   PMID:26496610  
PMID:26511642   PMID:26673895   PMID:26760575   PMID:26972000   PMID:27173435   PMID:27705803   PMID:27926873   PMID:28077445   PMID:28302793   PMID:28330616   PMID:28712289   PMID:28883622  
PMID:28977666   PMID:29395067   PMID:29467282   PMID:29478914   PMID:29568061   PMID:30021884   PMID:30154076   PMID:30404004   PMID:30415952   PMID:30463901   PMID:30804502   PMID:30833792  
PMID:31091453   PMID:31527615   PMID:31586073   PMID:31617661   PMID:31995728   PMID:32694731   PMID:32786267   PMID:32807901   PMID:32877691   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
LAS1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX65,438,549 - 65,534,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38X65,512,582 - 65,534,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,732,462 - 64,754,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,649,191 - 64,671,392 (-)NCBINCBI36hg18NCBI36
Build 34X64,515,488 - 64,537,688NCBI
CeleraX65,079,606 - 65,101,830 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX58,560,622 - 58,582,851 (-)NCBIHuRef
CHM1_1X64,625,528 - 64,647,714 (-)NCBICHM1_1
Las1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X94,963,651 - 95,000,580 (-)NCBIGRCm39mm39
GRCm39 EnsemblX94,978,941 - 95,000,568 (-)Ensembl
GRCm38X95,920,045 - 95,956,974 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX95,935,335 - 95,956,962 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X93,130,652 - 93,152,298 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X92,138,032 - 92,159,678 (-)NCBImm8
CeleraX82,950,134 - 82,971,857 (-)NCBICelera
Cytogenetic MapXC3NCBI
Las1l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X60,851,969 - 60,873,717 (-)NCBImRatBN7.2
mRatBN7.2 EnsemblX60,851,962 - 60,873,687 (-)Ensembl
Rnor_6.0X65,081,591 - 65,102,344 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX65,081,591 - 65,102,380 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X65,923,644 - 65,944,397 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X83,568,652 - 83,590,289 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX61,266,251 - 61,287,857 (-)NCBICelera
Cytogenetic MapXq22NCBI
Las1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,164,877 - 5,189,928 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554755,143,641 - 5,189,075 (-)NCBIChiLan1.0ChiLan1.0
LAS1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X64,703,731 - 64,726,304 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX64,703,731 - 64,727,169 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X54,628,539 - 54,650,756 (-)NCBIMhudiblu_PPA_v0panPan3
LAS1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,524,199 - 50,543,838 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,524,199 - 50,543,777 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX41,363,066 - 41,382,696 (-)NCBI
ROS_Cfam_1.0X51,483,023 - 51,502,661 (-)NCBI
UMICH_Zoey_3.1X49,453,569 - 49,473,203 (-)NCBI
UNSW_CanFamBas_1.0X50,800,422 - 50,820,058 (-)NCBI
UU_Cfam_GSD_1.0X50,710,670 - 50,730,300 (-)NCBI
Las1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,794,962 - 51,814,713 (+)NCBI
SpeTri2.0NW_0049366352,560,586 - 2,580,309 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAS1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX51,749,601 - 51,773,396 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X51,753,600 - 51,773,416 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,376,398 - 58,402,562 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAS1L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X55,503,201 - 55,524,995 (-)NCBI
ChlSab1.1 EnsemblX55,503,109 - 55,525,026 (-)Ensembl
Vero_WHO_p1.0NW_0236660832,799,218 - 2,820,979 (-)NCBI
Las1l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248981,724,406 - 1,743,090 (+)NCBI

Position Markers
RH102799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,732,580 - 64,732,717UniSTSGRCh37
Build 36X64,649,305 - 64,649,442RGDNCBI36
CeleraX65,079,724 - 65,079,861RGD
Cytogenetic MapXq12UniSTS
HuRefX58,560,740 - 58,560,877UniSTS
GeneMap99-GB4 RH MapX213.74UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3455
Count of miRNA genes:1033
Interacting mature miRNAs:1231
Transcripts:ENST00000312391, ENST00000374804, ENST00000374807, ENST00000374811, ENST00000469091, ENST00000484069
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2196 1543 1423 325 1202 180 3740 1158 3444 341 1455 1600 161 1 1178 2173 5 2
Low 243 1445 303 299 746 285 617 1039 290 78 5 13 14 26 615 1
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF116730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA619280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374804   ⟹   ENSP00000363937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,583 - 65,534,756 (-)Ensembl
RefSeq Acc Id: ENST00000374807   ⟹   ENSP00000363940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,582 - 65,534,754 (-)Ensembl
RefSeq Acc Id: ENST00000374811   ⟹   ENSP00000363944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,582 - 65,534,787 (-)Ensembl
RefSeq Acc Id: ENST00000469091   ⟹   ENSP00000473630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,520,429 - 65,523,617 (-)Ensembl
RefSeq Acc Id: ENST00000484069   ⟹   ENSP00000473471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,583 - 65,534,775 (-)Ensembl
RefSeq Acc Id: ENST00000676986   ⟹   ENSP00000503577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,520,467 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000677056   ⟹   ENSP00000504224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,438,549 - 65,534,782 (-)Ensembl
RefSeq Acc Id: ENST00000677087   ⟹   ENSP00000503907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,588 - 65,534,776 (-)Ensembl
RefSeq Acc Id: ENST00000677154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000677834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,582 - 65,534,754 (-)Ensembl
RefSeq Acc Id: ENST00000677969   ⟹   ENSP00000503410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,499,118 - 65,534,754 (-)Ensembl
RefSeq Acc Id: ENST00000677986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,588 - 65,534,806 (-)Ensembl
RefSeq Acc Id: ENST00000678074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,623 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678570   ⟹   ENSP00000504558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,520,627 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,524,764 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678823   ⟹   ENSP00000503795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,520,495 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000678848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,757 (-)Ensembl
RefSeq Acc Id: ENST00000678956   ⟹   ENSP00000504653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: ENST00000679056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,810 (-)Ensembl
RefSeq Acc Id: ENST00000679116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,787 (-)Ensembl
RefSeq Acc Id: ENST00000679261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,800 (-)Ensembl
RefSeq Acc Id: ENST00000679277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,512,603 - 65,534,798 (-)Ensembl
RefSeq Acc Id: NM_001170649   ⟹   NP_001164120
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
GRCh37X64,732,462 - 64,754,686 (-)RGD
CeleraX65,079,606 - 65,101,830 (-)RGD
HuRefX58,560,622 - 58,582,851 (-)RGD
CHM1_1X64,625,528 - 64,647,714 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170650   ⟹   NP_001164121
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
GRCh37X64,732,462 - 64,754,686 (-)RGD
CeleraX65,079,606 - 65,101,830 (-)RGD
HuRefX58,560,622 - 58,582,851 (-)RGD
CHM1_1X64,625,528 - 64,647,714 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375328   ⟹   NP_001362257
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375329   ⟹   NP_001362258
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375330   ⟹   NP_001362259
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375331   ⟹   NP_001362260
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375332   ⟹   NP_001362261
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375333   ⟹   NP_001362262
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375334   ⟹   NP_001362263
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375335   ⟹   NP_001362264
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375336   ⟹   NP_001362265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_001375337   ⟹   NP_001362266
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,787 (-)NCBI
RefSeq Acc Id: NM_031206   ⟹   NP_112483
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
GRCh37X64,732,462 - 64,754,686 (-)RGD
Build 36X64,649,191 - 64,671,392 (-)NCBI Archive
CeleraX65,079,606 - 65,101,830 (-)RGD
HuRefX58,560,622 - 58,582,851 (-)RGD
CHM1_1X64,625,528 - 64,647,714 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164681
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,787 (-)NCBI
RefSeq Acc Id: XM_005262306   ⟹   XP_005262363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,778 (-)NCBI
GRCh37X64,732,462 - 64,754,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531045   ⟹   XP_011529347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,756 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531046   ⟹   XP_011529348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029879   ⟹   XP_016885368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755730
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755731
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755732
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755733
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_430522
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,512,582 - 65,534,778 (-)NCBI
Sequence:
RefSeq Acc Id: XR_938412
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,520,429 - 65,534,778 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164120 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362266 (Get FASTA)   NCBI Sequence Viewer  
  NP_112483 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262363 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529347 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529348 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885368 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14545 (Get FASTA)   NCBI Sequence Viewer  
  AAH18610 (Get FASTA)   NCBI Sequence Viewer  
  AAH19302 (Get FASTA)   NCBI Sequence Viewer  
  AAO15306 (Get FASTA)   NCBI Sequence Viewer  
  ABD39127 (Get FASTA)   NCBI Sequence Viewer  
  ABD39128 (Get FASTA)   NCBI Sequence Viewer  
  ABD39129 (Get FASTA)   NCBI Sequence Viewer  
  BAB14114 (Get FASTA)   NCBI Sequence Viewer  
  BAB84913 (Get FASTA)   NCBI Sequence Viewer  
  BAG51428 (Get FASTA)   NCBI Sequence Viewer  
  BAG53459 (Get FASTA)   NCBI Sequence Viewer  
  BAG54243 (Get FASTA)   NCBI Sequence Viewer  
  BAH12117 (Get FASTA)   NCBI Sequence Viewer  
  EAX05401 (Get FASTA)   NCBI Sequence Viewer  
  EAX05402 (Get FASTA)   NCBI Sequence Viewer  
  EAX05403 (Get FASTA)   NCBI Sequence Viewer  
  EAX05404 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y4W2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_112483   ⟸   NM_031206
- Peptide Label: isoform 1
- UniProtKB: Q9Y4W2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164120   ⟸   NM_001170649
- Peptide Label: isoform 2
- UniProtKB: Q9Y4W2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164121   ⟸   NM_001170650
- Peptide Label: isoform 3
- UniProtKB: Q9Y4W2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262363   ⟸   XM_005262306
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011529347   ⟸   XM_011531045
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529348   ⟸   XM_011531046
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885368   ⟸   XM_017029879
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001362261   ⟸   NM_001375332
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001362262   ⟸   NM_001375333
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001362257   ⟸   NM_001375328
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001362260   ⟸   NM_001375331
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001362266   ⟸   NM_001375337
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001362265   ⟸   NM_001375336
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001362258   ⟸   NM_001375329
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001362259   ⟸   NM_001375330
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001362263   ⟸   NM_001375334
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001362264   ⟸   NM_001375335
- Peptide Label: isoform 10
RefSeq Acc Id: ENSP00000363937   ⟸   ENST00000374804
RefSeq Acc Id: ENSP00000363940   ⟸   ENST00000374807
RefSeq Acc Id: ENSP00000363944   ⟸   ENST00000374811
RefSeq Acc Id: ENSP00000473630   ⟸   ENST00000469091
RefSeq Acc Id: ENSP00000473471   ⟸   ENST00000484069
RefSeq Acc Id: ENSP00000503577   ⟸   ENST00000676986
RefSeq Acc Id: ENSP00000504224   ⟸   ENST00000677056
RefSeq Acc Id: ENSP00000503907   ⟸   ENST00000677087
RefSeq Acc Id: ENSP00000503410   ⟸   ENST00000677969
RefSeq Acc Id: ENSP00000503795   ⟸   ENST00000678823
RefSeq Acc Id: ENSP00000504558   ⟸   ENST00000678570
RefSeq Acc Id: ENSP00000504653   ⟸   ENST00000678956

Promoters
RGD ID:6808475
Promoter ID:HG_KWN:67060
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:UC004DVY.1,   UC004DVZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,654,716 - 64,655,267 (-)MPROMDB
RGD ID:6808992
Promoter ID:HG_KWN:67062
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000312391,   NM_001170650,   OTTHUMT00000056974,   OTTHUMT00000056975,   OTTHUMT00000056976
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,671,209 - 64,671,709 (-)MPROMDB
RGD ID:6850578
Promoter ID:EP73080
Type:initiation region
Name:HS_FLJ12525
Description:Hypothetical protein FLJ12525.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,671,361 - 64,671,421EPD
RGD ID:13627313
Promoter ID:EPDNEW_H28933
Type:initiation region
Name:LAS1L_1
Description:LAS1 like, ribosome biogenesis factor
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
GRCh38X65,534,787 - 65,534,847EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031206.4(LAS1L):c.1343G>T (p.Arg448Ile) single nucleotide variant not provided [RCV000519657] ChrX:65523665 [GRCh38]
ChrX:64743545 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.1082C>G (p.Pro361Arg) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000545424]|not provided [RCV001311396] ChrX:65524575 [GRCh38]
ChrX:64744455 [GRCh37]
ChrX:Xq12
likely benign|uncertain significance
NM_031206.4(LAS1L):c.2050C>T (p.Arg684Trp) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000558768] ChrX:65514851 [GRCh38]
ChrX:64734731 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.186C>T (p.Asp62=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001412248] ChrX:65534530 [GRCh38]
ChrX:64754410 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.4(LAS1L):c.159G>A (p.Gln53=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000640514] ChrX:65534557 [GRCh38]
ChrX:64754437 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.4(LAS1L):c.99G>C (p.Ser33=) single nucleotide variant not provided [RCV000548434] ChrX:65534617 [GRCh38]
ChrX:64754497 [GRCh37]
ChrX:Xq12
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_031206.4(LAS1L):c.1371C>T (p.Ser457=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000557711] ChrX:65523637 [GRCh38]
ChrX:64743517 [GRCh37]
ChrX:Xq12
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_031206.4(LAS1L):c.1430G>A (p.Ser477Asn) single nucleotide variant Inborn genetic diseases [RCV000190764] ChrX:65523578 [GRCh38]
ChrX:64743458 [GRCh37]
ChrX:Xq12
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq11.2-12(chrX:64829717-65696211)x3 copy number gain See cases [RCV000137507] ChrX:64829717..65696211 [GRCh38]
ChrX:64049597..64916072 [GRCh37]
ChrX:63966322..64832797 [NCBI36]
ChrX:Xq11.2-12
likely pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_031206.4(LAS1L):c.1892G>C (p.Gly631Ala) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000550767] ChrX:65518022 [GRCh38]
ChrX:64737902 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000239552] ChrX:65529252 [GRCh38]
ChrX:64749132 [GRCh37]
ChrX:Xq12
pathogenic
LAS1L, ARG415TRP single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000239589] ChrX:Xq12 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_031206.4(LAS1L):c.646A>G (p.Asn216Asp) single nucleotide variant not provided [RCV000488167] ChrX:65529747 [GRCh38]
ChrX:64749627 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.1691T>C (p.Val564Ala) single nucleotide variant not provided [RCV000640513] ChrX:65518223 [GRCh38]
ChrX:64738103 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.4(LAS1L):c.347G>C (p.Gly116Ala) single nucleotide variant Inborn genetic diseases [RCV000622904] ChrX:65533625 [GRCh38]
ChrX:64753505 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.1472G>A (p.Gly491Asp) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000640512] ChrX:65518442 [GRCh38]
ChrX:64738322 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) single nucleotide variant Global developmental delay [RCV000415340]|Wilson-Turner X-linked mental retardation syndrome [RCV000239589] ChrX:65524113 [GRCh38]
ChrX:64743993 [GRCh37]
ChrX:Xq12
pathogenic|likely pathogenic|uncertain significance
NM_031206.4(LAS1L):c.1735G>A (p.Val579Ile) single nucleotide variant Intellectual disability [RCV001252303]|Wilson-Turner X-linked mental retardation syndrome [RCV000533880] ChrX:65518179 [GRCh38]
ChrX:64738059 [GRCh37]
ChrX:Xq12
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_031206.4(LAS1L):c.2047C>T (p.Gln683Ter) single nucleotide variant not provided [RCV000418984] ChrX:65514854 [GRCh38]
ChrX:64734734 [GRCh37]
ChrX:Xq12
likely pathogenic
GRCh37/hg19 Xq11.2-12(chrX:64236940-65161851)x3 copy number gain See cases [RCV000445659] ChrX:64236940..65161851 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
NM_031206.4(LAS1L):c.1505G>C (p.Arg502Pro) single nucleotide variant not provided [RCV000432767] ChrX:65518409 [GRCh38]
ChrX:64738289 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_031206.4(LAS1L):c.1961G>T (p.Arg654Leu) single nucleotide variant not provided [RCV000498039] ChrX:65514940 [GRCh38]
ChrX:64734820 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_031206.4(LAS1L):c.381A>G (p.Ser127=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000535799] ChrX:65532612 [GRCh38]
ChrX:64752492 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del) microsatellite Wilson-Turner X-linked mental retardation syndrome [RCV000640515] ChrX:65518121..65518123 [GRCh38]
ChrX:64738001..64738003 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_031206.4(LAS1L):c.747C>T (p.Ser249=) single nucleotide variant not provided [RCV000640516] ChrX:65529646 [GRCh38]
ChrX:64749526 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.4(LAS1L):c.940G>A (p.Val314Ile) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000640511] ChrX:65528276 [GRCh38]
ChrX:64748156 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_031206.4(LAS1L):c.1203G>T (p.Arg401Ser) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000704592] ChrX:65524153 [GRCh38]
ChrX:64744033 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.715G>T (p.Asp239Tyr) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000700504] ChrX:65529678 [GRCh38]
ChrX:64749558 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.937G>A (p.Gly313Ser) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000702269] ChrX:65528279 [GRCh38]
ChrX:64748159 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.4(LAS1L):c.502G>A (p.Asp168Asn) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000695703] ChrX:65531369 [GRCh38]
ChrX:64751249 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_031206.4(LAS1L):c.1114G>C (p.Val372Leu) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000818423] ChrX:65524242 [GRCh38]
ChrX:64744122 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xq12(chrX:64737188-64764336)x2 copy number gain not provided [RCV000753570] ChrX:64737188..64764336 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_031206.6(LAS1L):c.1043-8T>C single nucleotide variant not provided [RCV000936431] ChrX:65524622 [GRCh38]
ChrX:64744502 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.6(LAS1L):c.1269C>T (p.Thr423=) single nucleotide variant not provided [RCV000878334] ChrX:65524087 [GRCh38]
ChrX:64743967 [GRCh37]
ChrX:Xq12
benign
NM_031206.6(LAS1L):c.1851C>T (p.Ser617=) single nucleotide variant not provided [RCV000884670] ChrX:65518063 [GRCh38]
ChrX:64737943 [GRCh37]
ChrX:Xq12
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1]) microsatellite Wilson-Turner X-linked mental retardation syndrome [RCV000871385] ChrX:65518109..65518117 [GRCh38]
ChrX:64737989..64737997 [GRCh37]
ChrX:Xq12
benign
NM_031206.4(LAS1L):c.1705A>G (p.Lys569Glu) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000804946] ChrX:65518209 [GRCh38]
ChrX:64738089 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.6(LAS1L):c.75A>G (p.Gly25=) single nucleotide variant not provided [RCV000938007] ChrX:65534641 [GRCh38]
ChrX:64754521 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_031206.4(LAS1L):c.1237G>A (p.Gly413Arg) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV000824689] ChrX:65524119 [GRCh38]
ChrX:64743999 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_031206.6(LAS1L):c.189T>C (p.His63=) single nucleotide variant not provided [RCV000978379] ChrX:65534527 [GRCh38]
ChrX:64754407 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.6(LAS1L):c.1893A>C (p.Gly631=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001516654]|not provided [RCV000938046] ChrX:65518021 [GRCh38]
ChrX:64737901 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001239005] ChrX:65518431 [GRCh38]
ChrX:64738311 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.504C>G (p.Asp168Glu) single nucleotide variant not provided [RCV000995926] ChrX:65531367 [GRCh38]
ChrX:64751247 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.6(LAS1L):c.5C>T (p.Ser2Leu) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001443922]|not provided [RCV000874028] ChrX:65534711 [GRCh38]
ChrX:64754591 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.6(LAS1L):c.2079-8C>T single nucleotide variant not provided [RCV000896560] ChrX:65512909 [GRCh38]
ChrX:64732789 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.6(LAS1L):c.1248T>A (p.Pro416=) single nucleotide variant not provided [RCV000887599] ChrX:65524108 [GRCh38]
ChrX:64743988 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.6(LAS1L):c.1002C>T (p.Pro334=) single nucleotide variant not provided [RCV000961199] ChrX:65525005 [GRCh38]
ChrX:64744885 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.754G>A (p.Val252Met) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001207561] ChrX:65529639 [GRCh38]
ChrX:64749519 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp) single nucleotide variant not provided [RCV001556165] ChrX:65533652 [GRCh38]
ChrX:64753532 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.847-124del deletion not provided [RCV001539838] ChrX:65528493 [GRCh38]
ChrX:64748373 [GRCh37]
ChrX:Xq12
benign
NM_031206.7(LAS1L):c.1850C>A (p.Ser617Tyr) single nucleotide variant not provided [RCV001573563] ChrX:65518064 [GRCh38]
ChrX:64737944 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xq11.2-12(chrX:64325329-64772747)x2 copy number gain not provided [RCV001007309] ChrX:64325329..64772747 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001071545] ChrX:65518344 [GRCh38]
ChrX:64738224 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.13T>A (p.Ser5Thr) single nucleotide variant Intellectual disability [RCV001252302] ChrX:65534703 [GRCh38]
ChrX:64754583 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001350405] ChrX:65524074 [GRCh38]
ChrX:64743954 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001301824] ChrX:65514850 [GRCh38]
ChrX:64734730 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.1396G>T (p.Val466Phe) single nucleotide variant Neurodevelopmental disorder [RCV001374967] ChrX:65523612 [GRCh38]
ChrX:64743492 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.948C>T (p.Cys316=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001321489] ChrX:65528268 [GRCh38]
ChrX:64748148 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001322559] ChrX:65529687 [GRCh38]
ChrX:64749567 [GRCh37]
ChrX:Xq12
uncertain significance
NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001365371] ChrX:65518077 [GRCh38]
ChrX:64737957 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001519483] ChrX:65524171 [GRCh38]
ChrX:64744051 [GRCh37]
ChrX:Xq12
benign
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001520469] ChrX:65529686 [GRCh38]
ChrX:64749566 [GRCh37]
ChrX:Xq12
benign
NM_031206.7(LAS1L):c.1392G>A (p.Arg464=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001439626] ChrX:65523616 [GRCh38]
ChrX:64743496 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.1770G>A (p.Glu590=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001442359] ChrX:65518144 [GRCh38]
ChrX:64738024 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.1927+9del deletion Wilson-Turner X-linked mental retardation syndrome [RCV001521522] ChrX:65517978 [GRCh38]
ChrX:64737858 [GRCh37]
ChrX:Xq12
benign
NM_031206.7(LAS1L):c.801A>G (p.Glu267=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001447136] ChrX:65529257 [GRCh38]
ChrX:64749137 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.882T>A (p.Ile294=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001459828] ChrX:65528334 [GRCh38]
ChrX:64748214 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.231G>A (p.Arg77=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001500862] ChrX:65534485 [GRCh38]
ChrX:64754365 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.1911A>G (p.Ala637=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001464857] ChrX:65518003 [GRCh38]
ChrX:64737883 [GRCh37]
ChrX:Xq12
likely benign
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001523370] ChrX:65523667 [GRCh38]
ChrX:64743547 [GRCh37]
ChrX:Xq12
benign
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr) single nucleotide variant Wilson-Turner X-linked mental retardation syndrome [RCV001521496] ChrX:65529630 [GRCh38]
ChrX:64749510 [GRCh37]
ChrX:Xq12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25726 AgrOrtholog
COSMIC LAS1L COSMIC
Ensembl Genes ENSG00000001497 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363944 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473471 UniProtKB/Swiss-Prot
  ENSP00000473630 UniProtKB/TrEMBL
  ENSP00000503410 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000503577 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000503795 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000503907 UniProtKB/TrEMBL
  ENSP00000504224 UniProtKB/TrEMBL
  ENSP00000504558 UniProtKB/TrEMBL
  ENSP00000504653 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374804 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374811 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469091 UniProtKB/TrEMBL
  ENST00000484069 UniProtKB/Swiss-Prot
  ENST00000676986 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677056 UniProtKB/TrEMBL
  ENST00000677087 UniProtKB/TrEMBL
  ENST00000677969 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000678074 ENTREZGENE
  ENST00000678173 ENTREZGENE
  ENST00000678570 UniProtKB/TrEMBL
  ENST00000678823 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000678956 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000001497 GTEx
HGNC ID HGNC:25726 ENTREZGENE
Human Proteome Map LAS1L Human Proteome Map
InterPro Las1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81887 UniProtKB/Swiss-Prot
NCBI Gene 81887 ENTREZGENE
OMIM 300964 OMIM
  309585 OMIM
PANTHER PTHR15002 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Las1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394732 PharmGKB
UniProt A0A7I2V3Q3_HUMAN UniProtKB/TrEMBL
  A0A7I2V3R6_HUMAN UniProtKB/TrEMBL
  A0A7I2V4E5_HUMAN UniProtKB/TrEMBL
  A0A7I2V4V0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5R7_HUMAN UniProtKB/TrEMBL
  A0A7I2V653_HUMAN UniProtKB/TrEMBL
  A0A7I2YQI7_HUMAN UniProtKB/TrEMBL
  LAS1L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GNF7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A9X410 UniProtKB/Swiss-Prot
  Q5JXQ0 UniProtKB/Swiss-Prot
  Q8TEN5 UniProtKB/Swiss-Prot
  Q9H9V5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 LAS1L  LAS1 like ribosome biogenesis factor  LAS1L  LAS1 like, ribosome biogenesis factor  Symbol and/or name change 5135510 APPROVED
2016-06-21 LAS1L  LAS1 like, ribosome biogenesis factor    LAS1-like, ribosome biogenesis factor  Symbol and/or name change 5135510 APPROVED
2015-06-30 LAS1L  LAS1-like, ribosome biogenesis factor    LAS1-like (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED