LANCL3 (LanC like family member 3) - Rat Genome Database

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Gene: LANCL3 (LanC like family member 3) Homo sapiens
Analyze
Symbol: LANCL3
Name: LanC like family member 3
RGD ID: 1349608
HGNC Page HGNC:24767
Description: Predicted to be involved in carbohydrate metabolic process and peptide modification. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ42925; LanC lantibiotic synthetase component C-like 3; LanC like 3; lanC-like protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422408  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X37,571,661 - 37,684,463 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX37,571,569 - 37,684,463 (+)EnsemblGRCh38hg38GRCh38
GRCh37X37,430,914 - 37,543,716 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,315,741 - 37,421,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X37,187,013 - 37,292,941NCBI
CeleraX41,568,483 - 41,674,412 (+)NCBICelera
Cytogenetic MapXp21.1NCBI
HuRefX35,177,392 - 35,283,210 (+)NCBIHuRef
CHM1_1X37,461,942 - 37,567,881 (+)NCBICHM1_1
T2T-CHM13v2.0X36,975,217 - 37,088,020 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
plasma membrane  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10409428   PMID:12477932   PMID:21873635   PMID:33961781  


Genomics

Comparative Map Data
LANCL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X37,571,661 - 37,684,463 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX37,571,569 - 37,684,463 (+)EnsemblGRCh38hg38GRCh38
GRCh37X37,430,914 - 37,543,716 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,315,741 - 37,421,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X37,187,013 - 37,292,941NCBI
CeleraX41,568,483 - 41,674,412 (+)NCBICelera
Cytogenetic MapXp21.1NCBI
HuRefX35,177,392 - 35,283,210 (+)NCBIHuRef
CHM1_1X37,461,942 - 37,567,881 (+)NCBICHM1_1
T2T-CHM13v2.0X36,975,217 - 37,088,020 (+)NCBIT2T-CHM13v2.0
Lancl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X9,066,212 - 9,134,324 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX9,066,141 - 9,134,324 (+)EnsemblGRCm39 Ensembl
GRCm38X9,199,973 - 9,268,085 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX9,199,902 - 9,268,085 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X8,777,099 - 8,845,211 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X8,356,932 - 8,425,044 (+)NCBIMGSCv36mm8
CeleraX6,939,793 - 7,007,686 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.18NCBI
Lancl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X16,150,991 - 16,282,425 (-)NCBIGRCr8
mRatBN7.2X13,478,499 - 13,609,934 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX13,480,311 - 13,609,678 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX13,668,026 - 13,802,683 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X17,164,957 - 17,299,612 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X13,421,537 - 13,556,192 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X14,358,224 - 14,490,340 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX14,358,224 - 14,490,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X15,139,374 - 15,271,030 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X25,632,939 - 25,763,093 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX13,918,129 - 13,943,497 (+)NCBICelera
Cytogenetic MapXq12NCBI
Lancl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955587556,105 - 658,735 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955587556,105 - 658,735 (+)NCBIChiLan1.0ChiLan1.0
LANCL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X39,219,967 - 39,333,348 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X39,223,341 - 39,336,722 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X30,021,481 - 30,134,830 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X37,731,552 - 37,838,564 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX37,731,552 - 37,838,564 (+)Ensemblpanpan1.1panPan2
LANCL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X32,349,007 - 32,452,130 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,349,269 - 32,443,254 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX19,697,168 - 19,799,843 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X32,388,686 - 32,489,931 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX32,388,634 - 32,482,657 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X32,475,050 - 32,577,678 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X32,439,725 - 32,542,739 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X32,487,876 - 32,590,728 (+)NCBIUU_Cfam_GSD_1.0
Lancl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X24,578,494 - 24,681,314 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365024,419,474 - 4,520,795 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365024,419,279 - 4,522,025 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LANCL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX33,427,444 - 33,541,304 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X33,426,731 - 33,543,506 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,128,910 - 37,198,298 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LANCL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366605638,041,100 - 38,147,980 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lancl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476217,925,158 - 18,033,734 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476217,916,148 - 18,033,799 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LANCL3
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
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)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: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:10679-156022206)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 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: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 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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0 copy number loss See cases [RCV000053080] ChrX:31665506..37921988 [GRCh38]
ChrX:31683623..37781241 [GRCh37]
ChrX:31593544..37666185 [NCBI36]
ChrX:Xp21.1-11.4		 pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 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: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: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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 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
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 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 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 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 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 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp21.1(chrX:37379580-37660460)x2 copy number gain See cases [RCV000135244] ChrX:37379580..37660460 [GRCh38]
ChrX:37238833..37519713 [GRCh37]
ChrX:37123754..37404632 [NCBI36]
ChrX:Xp21.1		 likely benign
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: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-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-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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:37564515-37871920)x2 copy number gain See cases [RCV000137210] ChrX:37564515..37871920 [GRCh38]
ChrX:37308687..37616117 [NCBI36]
ChrX:Xp21.1-11.4		 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 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4		 likely pathogenic|uncertain significance
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 Xp21.1(chrX:37379656-37619694)x3 copy number gain See cases [RCV000138767] ChrX:37379656..37619694 [GRCh38]
ChrX:37123830..37363868 [NCBI36]
ChrX:Xp21.1		 likely benign
GRCh38/hg38 Xp21.1(chrX:37581547-37703226)x2 copy number gain See cases [RCV000138242] ChrX:37581547..37703226 [GRCh38]
ChrX:37325721..37447418 [NCBI36]
ChrX:Xp21.1		 uncertain significance
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 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 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4		 uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp21.1(chrX:37379580-37619860)x3 copy number gain See cases [RCV000141621] ChrX:37379580..37619860 [GRCh38]
ChrX:37123754..37364034 [NCBI36]
ChrX:Xp21.1		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4		 uncertain significance
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
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
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 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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
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 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
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
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
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 Xp21.1(chrX:37222966-37524396)x2 copy number gain See cases [RCV000454147] ChrX:37222966..37524396 [GRCh37]
ChrX:Xp21.1		 uncertain significance
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 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 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
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3		 pathogenic
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1		 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
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
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 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001170331.2(LANCL3):c.41A>T (p.Tyr14Phe) single nucleotide variant Inborn genetic diseases [RCV003280138] ChrX:37571911 [GRCh38]
ChrX:37431164 [GRCh37]
ChrX:Xp21.1		 uncertain significance
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
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3		 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
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp21.1(chrX:37228137-37536958)x2 copy number gain not provided [RCV000684318] ChrX:37228137..37536958 [GRCh37]
ChrX:Xp21.1		 likely benign|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
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp21.1(chrX:37253679-37534533)x2 copy number gain not provided [RCV000753512] ChrX:37253679..37534533 [GRCh37]
ChrX:Xp21.1		 benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
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: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)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 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_001170331.2(LANCL3):c.1103+925A>G single nucleotide variant not provided [RCV001573586] ChrX:37668414 [GRCh38]
ChrX:37527667 [GRCh37]
ChrX:Xp21.1		 likely benign
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
NM_001170331.2(LANCL3):c.867G>A (p.Glu289=) single nucleotide variant not provided [RCV000962898] ChrX:37659631 [GRCh38]
ChrX:37518884 [GRCh37]
ChrX:Xp21.1		 benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
GRCh37/hg19 Xp21.1(chrX:37448237-37568108)x3 copy number gain not provided [RCV000849168] ChrX:37448237..37568108 [GRCh37]
ChrX:Xp21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1(chrX:37448237-37563710)x2 copy number gain not provided [RCV000846285] ChrX:37448237..37563710 [GRCh37]
ChrX:Xp21.1		 uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4		 pathogenic
NM_001170331.2(LANCL3):c.944A>G (p.Gln315Arg) single nucleotide variant Inborn genetic diseases [RCV003253482] ChrX:37667330 [GRCh38]
ChrX:37526583 [GRCh37]
ChrX:Xp21.1		 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
GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2 copy number gain not provided [RCV001007295] ChrX:37472900..37879310 [GRCh37]
ChrX:Xp21.1-11.4		 uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4		 pathogenic
Single allele deletion Retinitis pigmentosa 3 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4		 pathogenic
GRCh37/hg19 Xp21.1(chrX:37221175-37549799)x3 copy number gain not provided [RCV001258966] ChrX:37221175..37549799 [GRCh37]
ChrX:Xp21.1		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3 copy number gain not provided [RCV001258967] ChrX:37487291..38568933 [GRCh37]
ChrX:Xp21.1-11.4		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3 copy number gain not provided [RCV001825261] ChrX:37526649..37554684 [GRCh37]
ChrX:Xp21.1		 not provided
GRCh37/hg19 Xp21.1-11.4(chrX:37434962-37882707)x3 copy number gain not provided [RCV001827967] ChrX:37434962..37882707 [GRCh37]
ChrX:Xp21.1-11.4		 uncertain significance
GRCh37/hg19 Xp21.1(chrX:37221176-37532828)x2 copy number gain not provided [RCV001834232] ChrX:37221176..37532828 [GRCh37]
ChrX:Xp21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1 copy number loss not provided [RCV002473810] ChrX:32419533..37487291 [GRCh37]
ChrX:Xp21.1		 pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37472901-38023139)x2 copy number gain not provided [RCV002473495] ChrX:37472901..38023139 [GRCh37]
ChrX:Xp21.1-11.4		 uncertain significance
NM_001170331.2(LANCL3):c.1208T>C (p.Ile403Thr) single nucleotide variant Inborn genetic diseases [RCV002681997] ChrX:37675758 [GRCh38]
ChrX:37535011 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.490G>C (p.Glu164Gln) single nucleotide variant Inborn genetic diseases [RCV002734554] ChrX:37572360 [GRCh38]
ChrX:37431613 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.172G>C (p.Ala58Pro) single nucleotide variant Inborn genetic diseases [RCV002841252] ChrX:37572042 [GRCh38]
ChrX:37431295 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.1075A>G (p.Asn359Asp) single nucleotide variant Inborn genetic diseases [RCV002688943] ChrX:37667461 [GRCh38]
ChrX:37526714 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.347C>T (p.Thr116Ile) single nucleotide variant Inborn genetic diseases [RCV002911025] ChrX:37572217 [GRCh38]
ChrX:37431470 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.841G>A (p.Gly281Ser) single nucleotide variant Inborn genetic diseases [RCV002694449] ChrX:37659605 [GRCh38]
ChrX:37518858 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.454G>A (p.Ala152Thr) single nucleotide variant Inborn genetic diseases [RCV002666352] ChrX:37572324 [GRCh38]
ChrX:37431577 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.187G>T (p.Gly63Trp) single nucleotide variant Inborn genetic diseases [RCV002983726] ChrX:37572057 [GRCh38]
ChrX:37431310 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.935A>T (p.Lys312Met) single nucleotide variant Inborn genetic diseases [RCV002897694] ChrX:37667321 [GRCh38]
ChrX:37526574 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.131C>A (p.Pro44Gln) single nucleotide variant Inborn genetic diseases [RCV002935452] ChrX:37572001 [GRCh38]
ChrX:37431254 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.640A>G (p.Ile214Val) single nucleotide variant Inborn genetic diseases [RCV002769716] ChrX:37655754 [GRCh38]
ChrX:37515007 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.268G>C (p.Glu90Gln) single nucleotide variant Inborn genetic diseases [RCV002678162] ChrX:37572138 [GRCh38]
ChrX:37431391 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.400G>A (p.Val134Ile) single nucleotide variant Inborn genetic diseases [RCV003277291] ChrX:37572270 [GRCh38]
ChrX:37431523 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.334C>G (p.Pro112Ala) single nucleotide variant Inborn genetic diseases [RCV003300700] ChrX:37572204 [GRCh38]
ChrX:37431457 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.680A>G (p.Tyr227Cys) single nucleotide variant Inborn genetic diseases [RCV003203825] ChrX:37655794 [GRCh38]
ChrX:37515047 [GRCh37]
ChrX:Xp21.1		 uncertain significance
NM_001170331.2(LANCL3):c.1104G>C (p.Arg368Ser) single nucleotide variant Inborn genetic diseases [RCV003361290] ChrX:37675654 [GRCh38]
ChrX:37534907 [GRCh37]
ChrX:Xp21.1		 uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1 copy number loss not provided [RCV003483418] ChrX:24633854..44236178 [GRCh37]
ChrX:Xp22.11-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_001170331.2(LANCL3):c.342C>T (p.Ala114=) single nucleotide variant not provided [RCV003438054] ChrX:37572212 [GRCh38]
ChrX:37431465 [GRCh37]
ChrX:Xp21.1		 likely benign
NM_001170331.2(LANCL3):c.504C>T (p.Asp168=) single nucleotide variant not provided [RCV003438055] ChrX:37572374 [GRCh38]
ChrX:37431627 [GRCh37]
ChrX:Xp21.1		 likely benign
NM_001170331.2(LANCL3):c.698-4A>G single nucleotide variant not provided [RCV003438056] ChrX:37659458 [GRCh38]
ChrX:37518711 [GRCh37]
ChrX:Xp21.1		 likely benign
NM_001170331.2(LANCL3):c.942G>A (p.Pro314=) single nucleotide variant not provided [RCV003438058] ChrX:37667328 [GRCh38]
ChrX:37526581 [GRCh37]
ChrX:Xp21.1		 likely benign
NM_001170331.2(LANCL3):c.1103+918G>C single nucleotide variant not provided [RCV003438059] ChrX:37668407 [GRCh38]
ChrX:37527660 [GRCh37]
ChrX:Xp21.1		 likely benign
NM_001170331.2(LANCL3):c.888C>T (p.Gly296=) single nucleotide variant not provided [RCV003438057] ChrX:37659652 [GRCh38]
ChrX:37518905 [GRCh37]
ChrX:Xp21.1		 likely benign
GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641) copy number loss not specified [RCV003986212] ChrX:33027159..39840641 [GRCh37]
ChrX:Xp21.1-11.4		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7408
Count of miRNA genes:1462
Interacting mature miRNAs:2001
Transcripts:ENST00000378619, ENST00000378621
Prediction methods:Microtar, Miranda, Pita, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 3 3
Low 1460 996 225 66 118 19 1505 465 1350 53 288 382 53 79 1070
Below cutoff 947 1963 1277 350 1327 238 2809 1697 2348 282 1107 1129 118 1124 1718 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI989993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG944288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378619   ⟹   ENSP00000367882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX37,571,661 - 37,684,463 (+)Ensembl
RefSeq Acc Id: ENST00000378621   ⟹   ENSP00000367885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX37,571,569 - 37,684,463 (+)Ensembl
RefSeq Acc Id: ENST00000614025   ⟹   ENSP00000479231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX37,571,569 - 37,668,431 (+)Ensembl
RefSeq Acc Id: NM_001170331   ⟹   NP_001163802
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,571,661 - 37,684,463 (+)NCBI
GRCh37X37,430,822 - 37,536,750 (+)RGD
CeleraX41,568,483 - 41,674,412 (+)RGD
HuRefX35,177,392 - 35,283,210 (+)ENTREZGENE
CHM1_1X37,461,942 - 37,567,881 (+)NCBI
T2T-CHM13v2.0X36,975,217 - 37,088,020 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198511   ⟹   NP_940913
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,571,661 - 37,684,463 (+)NCBI
GRCh37X37,430,822 - 37,536,750 (+)RGD
Build 36X37,315,741 - 37,421,668 (+)NCBI Archive
CeleraX41,568,483 - 41,674,412 (+)RGD
HuRefX35,177,392 - 35,283,210 (+)ENTREZGENE
CHM1_1X37,461,942 - 37,567,881 (+)NCBI
T2T-CHM13v2.0X36,975,217 - 37,088,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543904   ⟹   XP_011542206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,572,505 - 37,684,463 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054326995   ⟹   XP_054182970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X36,976,061 - 37,088,020 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_940913   ⟸   NM_198511
- Peptide Label: isoform 1
- UniProtKB: Q6ZV70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001163802   ⟸   NM_001170331
- Peptide Label: isoform 2
- UniProtKB: A6NHE3 (UniProtKB/Swiss-Prot),   Q6ZV70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542206   ⟸   XM_011543904
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000367882   ⟸   ENST00000378619
RefSeq Acc Id: ENSP00000367885   ⟸   ENST00000378621
RefSeq Acc Id: ENSP00000479231   ⟸   ENST00000614025
RefSeq Acc Id: XP_054182970   ⟸   XM_054326995
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZV70-F1-model_v2 AlphaFold Q6ZV70 1-420 view protein structure

Promoters
RGD ID:13605012
Promoter ID:EPDNEW_H28690
Type:initiation region
Name:LANCL3_2
Description:LanC like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28691  EPDNEW_H28692  EPDNEW_H28693  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,571,537 - 37,571,597EPDNEW
RGD ID:13605014
Promoter ID:EPDNEW_H28691
Type:initiation region
Name:LANCL3_1
Description:LanC like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28690  EPDNEW_H28692  EPDNEW_H28693  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,571,661 - 37,571,721EPDNEW
RGD ID:13605016
Promoter ID:EPDNEW_H28692
Type:initiation region
Name:LANCL3_3
Description:LanC like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28690  EPDNEW_H28691  EPDNEW_H28693  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,572,401 - 37,572,461EPDNEW
RGD ID:13605018
Promoter ID:EPDNEW_H28693
Type:initiation region
Name:LANCL3_4
Description:LanC like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28690  EPDNEW_H28691  EPDNEW_H28692  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,684,112 - 37,684,172EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24767 AgrOrtholog
COSMIC LANCL3 COSMIC
Ensembl Genes ENSG00000147036 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378619 ENTREZGENE
  ENST00000378619.4 UniProtKB/Swiss-Prot
  ENST00000378621 ENTREZGENE
  ENST00000378621.7 UniProtKB/Swiss-Prot
  ENST00000614025.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000147036 GTEx
HGNC ID HGNC:24767 ENTREZGENE
Human Proteome Map LANCL3 Human Proteome Map
InterPro 6hp_glycosidase-like_sf UniProtKB/Swiss-Prot
  LANC-like UniProtKB/Swiss-Prot
  LanC-like_prot_euk UniProtKB/Swiss-Prot
KEGG Report hsa:347404 UniProtKB/Swiss-Prot
NCBI Gene 347404 ENTREZGENE
PANTHER LANC-LIKE PROTEIN UniProtKB/Swiss-Prot
  LANC-LIKE PROTEIN 3 UniProtKB/Swiss-Prot
Pfam LANC_like UniProtKB/Swiss-Prot
PharmGKB PA134879796 PharmGKB
PRINTS LANCEUKARYTE UniProtKB/Swiss-Prot
  LANCSUPER UniProtKB/Swiss-Prot
SMART LANC_like UniProtKB/Swiss-Prot
Superfamily-SCOP LanC-like UniProtKB/Swiss-Prot
UniProt A6NHE3 ENTREZGENE
  LANC3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NHE3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-20 LANCL3  LanC like family member 3  LANCL3  LanC like 3  Symbol and/or name change 19259463 PROVISIONAL
2016-01-12 LANCL3  LanC like 3    LanC lantibiotic synthetase component C-like 3 (bacterial)  Symbol and/or name change 5135510 APPROVED