LY6H (lymphocyte antigen 6 family member H) - Rat Genome Database

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Gene: LY6H (lymphocyte antigen 6 family member H) Homo sapiens
Analyze
Symbol: LY6H
Name: lymphocyte antigen 6 family member H
RGD ID: 1323593
HGNC Page HGNC:6728
Description: Predicted to enable acetylcholine receptor binding activity and acetylcholine receptor inhibitor activity. Predicted to be involved in acetylcholine receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ly-6H; lymphocyte antigen 6 complex, locus H; lymphocyte antigen 6H; NMLY6
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
GRCh388143,157,916 - 143,160,654 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,157,914 - 143,160,711 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,239,333 - 144,242,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,310,706 - 144,313,116 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,310,706 - 144,313,116NCBI
Celera8140,549,466 - 140,552,209 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,492,661 - 139,495,085 (-)NCBIHuRef
CHM1_18144,280,092 - 144,282,809 (-)NCBICHM1_1
T2T-CHM13v2.08144,302,246 - 144,304,984 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3028776   PMID:9799603   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16169070   PMID:20237496   PMID:21873635   PMID:25416956   PMID:33961781   PMID:34446574  


Genomics

Comparative Map Data
LY6H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,157,916 - 143,160,654 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,157,914 - 143,160,711 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,239,333 - 144,242,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,310,706 - 144,313,116 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,310,706 - 144,313,116NCBI
Celera8140,549,466 - 140,552,209 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,492,661 - 139,495,085 (-)NCBIHuRef
CHM1_18144,280,092 - 144,282,809 (-)NCBICHM1_1
T2T-CHM13v2.08144,302,246 - 144,304,984 (-)NCBIT2T-CHM13v2.0
Ly6h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,436,594 - 75,439,114 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1575,424,894 - 75,439,104 (-)EnsemblGRCm39 Ensembl
GRCm381575,564,745 - 75,569,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,551,268 - 75,567,255 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,395,175 - 75,397,612 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361575,392,333 - 75,394,069 (-)NCBIMGSCv36mm8
Celera1577,065,191 - 77,067,531 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.52NCBI
Ly6h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,139,527 - 109,142,108 (-)NCBIGRCr8
mRatBN7.27107,258,779 - 107,261,270 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7107,258,779 - 107,261,454 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7108,993,776 - 108,995,628 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07111,217,437 - 111,219,289 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,163,372 - 111,165,224 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07116,605,556 - 116,608,072 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7116,605,558 - 116,607,674 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07116,499,353 - 116,501,882 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,510,429 - 113,512,281 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17113,544,660 - 113,547,107 (-)NCBI
Celera7103,622,192 - 103,624,045 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ly6h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,900,521 - 1,902,883 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,900,316 - 1,902,907 (-)NCBIChiLan1.0ChiLan1.0
LY6H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,635,214 - 160,637,955 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,152,077 - 136,154,818 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08139,904,883 - 139,907,583 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18142,928,511 - 142,930,633 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,928,511 - 142,930,464 (-)Ensemblpanpan1.1panPan2
LY6H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,984,864 - 36,987,176 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1336,984,853 - 36,987,118 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,937,622 - 36,939,458 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01337,456,602 - 37,458,444 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1337,456,589 - 37,459,132 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,129,173 - 37,131,006 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01337,247,636 - 37,249,472 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01337,724,481 - 37,726,323 (-)NCBIUU_Cfam_GSD_1.0
Ly6h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,408,425 - 1,410,394 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,834,899 - 8,837,886 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364708,834,904 - 8,836,493 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LY6H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,269,466 - 1,271,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,268,671 - 1,271,896 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,359,465 - 1,361,929 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LY6H
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,388,806 - 137,391,547 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8137,388,732 - 137,391,212 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660392,549,867 - 2,552,652 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ly6h
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473513,544,831 - 13,549,285 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473513,544,842 - 13,547,519 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LY6H
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_001135655.2(LY6H):c.374G>A (p.Cys125Tyr) single nucleotide variant Inborn genetic diseases [RCV003273474] Chr8:143158362 [GRCh38]
Chr8:144239779 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144097119-144359147)x3 copy number gain not provided [RCV000747923] Chr8:144097119..144359147 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_001135655.2(LY6H):c.122C>T (p.Ser41Leu) single nucleotide variant Inborn genetic diseases [RCV003245116] Chr8:143159590 [GRCh38]
Chr8:144241007 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144111911-144384136)x3 copy number gain not provided [RCV001259509] Chr8:144111911..144384136 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 copy number gain not provided [RCV002472598] Chr8:143895666..144568446 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001135655.2(LY6H):c.50G>C (p.Arg17Thr) single nucleotide variant Inborn genetic diseases [RCV002733951] Chr8:143159662 [GRCh38]
Chr8:144241079 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001135655.2(LY6H):c.64A>G (p.Met22Val) single nucleotide variant Inborn genetic diseases [RCV002782154] Chr8:143159648 [GRCh38]
Chr8:144241065 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001135655.2(LY6H):c.401C>T (p.Ala134Val) single nucleotide variant Inborn genetic diseases [RCV002830578] Chr8:143158335 [GRCh38]
Chr8:144239752 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001135655.2(LY6H):c.440G>A (p.Gly147Glu) single nucleotide variant Inborn genetic diseases [RCV002677983] Chr8:143158296 [GRCh38]
Chr8:144239713 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001135655.2(LY6H):c.131C>T (p.Ala44Val) single nucleotide variant Inborn genetic diseases [RCV003350578] Chr8:143158922 [GRCh38]
Chr8:144240339 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3 copy number gain not provided [RCV003484754] Chr8:143689344..144448860 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1680
Count of miRNA genes:521
Interacting mature miRNAs:615
Transcripts:ENST00000342752, ENST00000414417, ENST00000430474, ENST00000479685
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2
Medium 901 21 279 1 37 1 17 277 2411 6 201 35 1 25 14
Low 1297 501 630 79 273 60 1250 705 745 159 812 1027 20 1 831 590
Below cutoff 145 1758 625 353 672 242 2613 935 463 170 327 366 113 327 1853 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI914261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP347868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB471677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB502453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342752   ⟹   ENSP00000342711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,157,916 - 143,160,321 (-)Ensembl
RefSeq Acc Id: ENST00000414417   ⟹   ENSP00000399485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,157,914 - 143,160,711 (-)Ensembl
RefSeq Acc Id: ENST00000430474   ⟹   ENSP00000409899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,157,914 - 143,160,040 (-)Ensembl
RefSeq Acc Id: ENST00000479685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,157,914 - 143,160,309 (-)Ensembl
RefSeq Acc Id: ENST00000615409   ⟹   ENSP00000480084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,157,915 - 143,160,636 (-)Ensembl
RefSeq Acc Id: NM_001130478   ⟹   NP_001123950
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,157,916 - 143,160,654 (-)NCBI
GRCh378144,239,331 - 144,242,053 (-)RGD
Celera8140,549,466 - 140,552,209 (-)RGD
HuRef8139,492,661 - 139,495,085 (-)ENTREZGENE
CHM1_18144,280,092 - 144,282,809 (-)NCBI
T2T-CHM13v2.08144,302,246 - 144,304,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135655   ⟹   NP_001129127
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,157,916 - 143,160,321 (-)NCBI
GRCh378144,239,331 - 144,242,053 (-)RGD
Celera8140,549,466 - 140,552,209 (-)RGD
HuRef8139,492,661 - 139,495,085 (-)ENTREZGENE
CHM1_18144,280,092 - 144,282,516 (-)NCBI
T2T-CHM13v2.08144,302,246 - 144,304,651 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002347   ⟹   NP_002338
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,157,916 - 143,160,004 (-)NCBI
GRCh378144,239,331 - 144,242,053 (-)RGD
Build 368144,310,706 - 144,313,116 (-)NCBI Archive
Celera8140,549,466 - 140,552,209 (-)RGD
HuRef8139,492,661 - 139,495,085 (-)ENTREZGENE
CHM1_18144,280,092 - 144,282,218 (-)NCBI
T2T-CHM13v2.08144,302,246 - 144,304,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013413   ⟹   XP_016868902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,157,916 - 143,160,004 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421782   ⟹   XP_047277738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,157,916 - 143,160,654 (-)NCBI
RefSeq Acc Id: XM_054360475   ⟹   XP_054216450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,302,246 - 144,304,216 (-)NCBI
RefSeq Acc Id: XM_054360476   ⟹   XP_054216451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,302,246 - 144,304,984 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001129127   ⟸   NM_001135655
- Peptide Label: isoform b precursor
- UniProtKB: O94772 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123950   ⟸   NM_001130478
- Peptide Label: isoform b precursor
- UniProtKB: O94772 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002338   ⟸   NM_002347
- Peptide Label: isoform a precursor
- UniProtKB: J3KQI0 (UniProtKB/Swiss-Prot),   B2RAD2 (UniProtKB/Swiss-Prot),   Q6IAX0 (UniProtKB/Swiss-Prot),   O94772 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868902   ⟸   XM_017013413
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000399485   ⟸   ENST00000414417
RefSeq Acc Id: ENSP00000480084   ⟸   ENST00000615409
RefSeq Acc Id: ENSP00000409899   ⟸   ENST00000430474
RefSeq Acc Id: ENSP00000342711   ⟸   ENST00000342752
RefSeq Acc Id: XP_047277738   ⟸   XM_047421782
- Peptide Label: isoform X2
- UniProtKB: O94772 (UniProtKB/Swiss-Prot),   J3KQI0 (UniProtKB/Swiss-Prot),   B2RAD2 (UniProtKB/Swiss-Prot),   Q6IAX0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216451   ⟸   XM_054360476
- Peptide Label: isoform X2
- UniProtKB: O94772 (UniProtKB/Swiss-Prot),   J3KQI0 (UniProtKB/Swiss-Prot),   B2RAD2 (UniProtKB/Swiss-Prot),   Q6IAX0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216450   ⟸   XM_054360475
- Peptide Label: isoform X1
Protein Domains
UPAR/Ly6

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94772-F1-model_v2 AlphaFold O94772 1-140 view protein structure

Promoters
RGD ID:7214323
Promoter ID:EPDNEW_H12908
Type:initiation region
Name:LY6H_3
Description:lymphocyte antigen 6 family member H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12909  EPDNEW_H12910  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,160,004 - 143,160,064EPDNEW
RGD ID:7214325
Promoter ID:EPDNEW_H12909
Type:initiation region
Name:LY6H_1
Description:lymphocyte antigen 6 family member H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12908  EPDNEW_H12910  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,160,299 - 143,160,359EPDNEW
RGD ID:7214329
Promoter ID:EPDNEW_H12910
Type:initiation region
Name:LY6H_2
Description:lymphocyte antigen 6 family member H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12908  EPDNEW_H12909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,160,646 - 143,160,706EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6728 AgrOrtholog
COSMIC LY6H COSMIC
Ensembl Genes ENSG00000176956 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000274488 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342752 ENTREZGENE
  ENST00000342752.9 UniProtKB/Swiss-Prot
  ENST00000414417 ENTREZGENE
  ENST00000414417.6 UniProtKB/Swiss-Prot
  ENST00000430474 ENTREZGENE
  ENST00000430474.6 UniProtKB/Swiss-Prot
  ENST00000610554.2 UniProtKB/Swiss-Prot
  ENST00000615409 ENTREZGENE
  ENST00000615409.1 UniProtKB/Swiss-Prot
  ENST00000615434.4 UniProtKB/Swiss-Prot
  ENST00000631670.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot
GTEx ENSG00000176956 GTEx
  ENSG00000274488 GTEx
HGNC ID HGNC:6728 ENTREZGENE
Human Proteome Map LY6H Human Proteome Map
InterPro LY6_UPA_recep-like UniProtKB/Swiss-Prot
  Snake_toxin-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4062 UniProtKB/Swiss-Prot
NCBI Gene 4062 ENTREZGENE
OMIM 603625 OMIM
PANTHER LYMPHOCYTE ANTIGEN 6H UniProtKB/Swiss-Prot
  LYMPHOCYTE ANTIGEN 6H UniProtKB/Swiss-Prot
Pfam UPAR_LY6 UniProtKB/Swiss-Prot
PharmGKB PA30492 PharmGKB
SMART SM00134 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57302 UniProtKB/Swiss-Prot
UniProt B2RAD2 ENTREZGENE
  J3KQI0 ENTREZGENE
  LY6H_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IAX0 ENTREZGENE
UniProt Secondary B2RAD2 UniProtKB/Swiss-Prot
  J3KQI0 UniProtKB/Swiss-Prot
  Q6IAX0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-31 LY6H  lymphocyte antigen 6 family member H    lymphocyte antigen 6 complex, locus H  Symbol and/or name change 5135510 APPROVED