LYAR (Ly1 antibody reactive) - Rat Genome Database

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Gene: LYAR (Ly1 antibody reactive) Homo sapiens
Analyze
Symbol: LYAR
Name: Ly1 antibody reactive
RGD ID: 1604346
HGNC Page HGNC:26021
Description: Enables several functions, including DNA-binding transcription factor binding activity; identical protein binding activity; and transcription regulator inhibitor activity. Involved in several processes, including erythrocyte development; negative regulation of innate immune response; and regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell growth-regulating nucleolar protein; FLJ20425; Ly1 antibody reactive homolog; ZC2HC2; ZLYAR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LYARP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3844,267,701 - 4,290,154 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl44,267,701 - 4,290,154 (-)EnsemblGRCh38hg38GRCh38
GRCh3744,269,428 - 4,291,881 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3644,320,337 - 4,342,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera44,167,051 - 4,189,521 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef44,205,115 - 4,227,579 (-)NCBIHuRef
CHM1_144,267,309 - 4,289,782 (-)NCBICHM1_1
T2T-CHM13v2.044,237,159 - 4,259,618 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dioxygen  (EXP,ISO)
diuron  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
menadione  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
cytoplasm  (IEA)
nucleolus  (IBA,IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
photoreceptor outer segment  (IEA,ISS)

Molecular Function

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:8491376   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11790298   PMID:12429849   PMID:12477932   PMID:12777385   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16083285  
PMID:16169070   PMID:16381901   PMID:17353931   PMID:19710015   PMID:21044950   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21386990   PMID:21516116   PMID:21873635   PMID:21903422  
PMID:21907836   PMID:21988832   PMID:22658674   PMID:22681889   PMID:22720776   PMID:22952844   PMID:22990118   PMID:23383273   PMID:24366813   PMID:24457600   PMID:24495227   PMID:24613305  
PMID:24981860   PMID:24990247   PMID:25092918   PMID:25315684   PMID:25416956   PMID:25437307   PMID:25665578   PMID:25693804   PMID:26186194   PMID:26203195   PMID:26344197   PMID:26413750  
PMID:26496610   PMID:26949251   PMID:27049334   PMID:27142060   PMID:27195665   PMID:27248496   PMID:27634302   PMID:27976729   PMID:28077445   PMID:28276505   PMID:28514442   PMID:28515276  
PMID:28686580   PMID:28718761   PMID:28846114   PMID:28977666   PMID:29229926   PMID:29298432   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30021884   PMID:30177828  
PMID:30209976   PMID:30463901   PMID:30471916   PMID:30804502   PMID:30824926   PMID:30833792   PMID:30948266   PMID:30979931   PMID:30997501   PMID:31048545   PMID:31059266   PMID:31091453  
PMID:31180492   PMID:31391550   PMID:31413131   PMID:31504794   PMID:31515488   PMID:31527615   PMID:31540324   PMID:31586073   PMID:31665637   PMID:31751430   PMID:31753913   PMID:31822558  
PMID:31980649   PMID:32129710   PMID:32160526   PMID:32203420   PMID:32269044   PMID:32296183   PMID:32416067   PMID:32680882   PMID:32707033   PMID:32711345   PMID:32780723   PMID:32807901  
PMID:32994395   PMID:33022573   PMID:33024031   PMID:33301849   PMID:33306668   PMID:33462405   PMID:33644029   PMID:33658012   PMID:33731348   PMID:33742100   PMID:33961781   PMID:34029587  
PMID:34039624   PMID:34079125   PMID:34091597   PMID:34133714   PMID:34578187   PMID:34650049   PMID:34696677   PMID:34732716   PMID:34890041   PMID:35013218   PMID:35152003   PMID:35256949  
PMID:35271311   PMID:35446349   PMID:35563538   PMID:35568845   PMID:35819319   PMID:35821088   PMID:35831314   PMID:35850772   PMID:35944360   PMID:36089195   PMID:36180891   PMID:36215168  
PMID:36217029   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36574265   PMID:36614221   PMID:36912080   PMID:36964488   PMID:37616343   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
LYAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3844,267,701 - 4,290,154 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl44,267,701 - 4,290,154 (-)EnsemblGRCh38hg38GRCh38
GRCh3744,269,428 - 4,291,881 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3644,320,337 - 4,342,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera44,167,051 - 4,189,521 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef44,205,115 - 4,227,579 (-)NCBIHuRef
CHM1_144,267,309 - 4,289,782 (-)NCBICHM1_1
T2T-CHM13v2.044,237,159 - 4,259,618 (-)NCBIT2T-CHM13v2.0
Lyar
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39538,377,815 - 38,391,650 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl538,377,814 - 38,391,650 (+)EnsemblGRCm39 Ensembl
GRCm38538,220,471 - 38,234,306 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl538,220,470 - 38,234,306 (+)EnsemblGRCm38mm10GRCm38
MGSCv37538,611,721 - 38,625,545 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36538,508,799 - 38,522,546 (+)NCBIMGSCv36mm8
Celera535,670,252 - 35,684,076 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.29NCBI
Lyar
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81476,789,193 - 76,802,973 (-)NCBIGRCr8
mRatBN7.21472,576,878 - 72,590,854 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1472,576,879 - 72,590,612 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1477,018,568 - 77,032,136 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01478,259,442 - 78,273,010 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01474,699,518 - 74,713,086 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01477,308,211 - 77,321,931 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1477,308,204 - 77,321,977 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01477,290,073 - 77,303,793 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41477,859,637 - 77,873,205 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11477,862,030 - 77,875,596 (-)NCBI
Celera1471,527,386 - 71,540,966 (-)NCBICelera
Cytogenetic Map14q21NCBI
Lyar
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555145,358,843 - 5,376,112 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555145,358,843 - 5,375,990 (+)NCBIChiLan1.0ChiLan1.0
LYAR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v234,534,513 - 4,557,030 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan144,467,357 - 4,489,984 (-)NCBINHGRI_mPanPan1
PanPan1.144,348,263 - 4,370,716 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl44,348,263 - 4,364,347 (-)Ensemblpanpan1.1panPan2
LYAR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1369,710,735 - 69,724,175 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl369,710,735 - 69,724,177 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,262,732 - 72,281,663 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0370,467,687 - 70,486,622 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl370,467,692 - 70,486,574 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1369,741,785 - 69,760,718 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0369,906,935 - 69,925,842 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0370,288,339 - 70,307,278 (-)NCBIUU_Cfam_GSD_1.0
Lyar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528563,232,715 - 63,257,046 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647716,934,401 - 16,958,722 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LYAR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl86,081,368 - 6,099,857 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.186,081,332 - 6,099,861 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.285,776,295 - 5,794,805 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LYAR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12740,410,849 - 40,433,942 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604787,211,025 - 87,233,986 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lyar
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475521,434,144 - 21,450,124 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LYAR
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3 copy number gain See cases [RCV000051565] Chr4:4207414..5514441 [GRCh38]
Chr4:4209141..5516168 [GRCh37]
Chr4:4260042..5567069 [NCBI36]
Chr4:4p16.3-16.2		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 copy number loss See cases [RCV000239959] Chr4:3776784..7361544 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:4175522-4852658)x3 copy number gain See cases [RCV000446278] Chr4:4175522..4852658 [GRCh37]
Chr4:4p16.3-16.2		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:4238689-4765212)x3 copy number gain See cases [RCV000511057] Chr4:4238689..4765212 [GRCh37]
Chr4:4p16.3-16.2		 uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_017816.3(LYAR):c.725A>T (p.Asn242Ile) single nucleotide variant not specified [RCV004281778] Chr4:4274474 [GRCh38]
Chr4:4276201 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.1103T>G (p.Phe368Cys) single nucleotide variant not specified [RCV004295282] Chr4:4267926 [GRCh38]
Chr4:4269653 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.265A>T (p.Asn89Tyr) single nucleotide variant not specified [RCV004295192] Chr4:4279722 [GRCh38]
Chr4:4281449 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.207A>T (p.Lys69Asn) single nucleotide variant not specified [RCV004284405] Chr4:4281813 [GRCh38]
Chr4:4283540 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_017816.3(LYAR):c.173A>T (p.Tyr58Phe) single nucleotide variant not specified [RCV004281646] Chr4:4281847 [GRCh38]
Chr4:4283574 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_017816.3(LYAR):c.297G>C (p.Glu99Asp) single nucleotide variant not specified [RCV004078564] Chr4:4279690 [GRCh38]
Chr4:4281417 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.208G>C (p.Gly70Arg) single nucleotide variant not specified [RCV004146282] Chr4:4281812 [GRCh38]
Chr4:4283539 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.436G>A (p.Val146Ile) single nucleotide variant not specified [RCV004200710] Chr4:4274763 [GRCh38]
Chr4:4276490 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.901G>A (p.Asp301Asn) single nucleotide variant not specified [RCV004188066] Chr4:4273601 [GRCh38]
Chr4:4275328 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.62A>G (p.His21Arg) single nucleotide variant not specified [RCV004097071] Chr4:4283681 [GRCh38]
Chr4:4285408 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.457C>T (p.Arg153Trp) single nucleotide variant not specified [RCV004227602] Chr4:4274742 [GRCh38]
Chr4:4276469 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.32A>G (p.Glu11Gly) single nucleotide variant not specified [RCV004143194] Chr4:4283711 [GRCh38]
Chr4:4285438 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.827C>T (p.Ser276Leu) single nucleotide variant not specified [RCV004206493] Chr4:4274372 [GRCh38]
Chr4:4276099 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.907G>C (p.Ala303Pro) single nucleotide variant not specified [RCV004075362] Chr4:4273595 [GRCh38]
Chr4:4275322 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.370G>C (p.Val124Leu) single nucleotide variant not specified [RCV004267797] Chr4:4279506 [GRCh38]
Chr4:4281233 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_017816.3(LYAR):c.1091A>G (p.Lys364Arg) single nucleotide variant not specified [RCV004341986] Chr4:4267938 [GRCh38]
Chr4:4269665 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.563A>T (p.Lys188Ile) single nucleotide variant not specified [RCV004351465] Chr4:4274636 [GRCh38]
Chr4:4276363 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_017816.3(LYAR):c.1097C>G (p.Pro366Arg) single nucleotide variant not specified [RCV004410983] Chr4:4267932 [GRCh38]
Chr4:4269659 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.318C>A (p.Asn106Lys) single nucleotide variant not specified [RCV004410984] Chr4:4279669 [GRCh38]
Chr4:4281396 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.395A>G (p.Gln132Arg) single nucleotide variant not specified [RCV004410985] Chr4:4279481 [GRCh38]
Chr4:4281208 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.550G>T (p.Val184Leu) single nucleotide variant not specified [RCV004410986] Chr4:4274649 [GRCh38]
Chr4:4276376 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.609G>T (p.Lys203Asn) single nucleotide variant not specified [RCV004410987] Chr4:4274590 [GRCh38]
Chr4:4276317 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_017816.3(LYAR):c.757A>C (p.Lys253Gln) single nucleotide variant not specified [RCV004410989] Chr4:4274442 [GRCh38]
Chr4:4276169 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:290
Count of miRNA genes:212
Interacting mature miRNAs:219
Transcripts:ENST00000343470, ENST00000452476, ENST00000502917, ENST00000513174
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-67674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,269,569 - 4,269,721UniSTSGRCh37
Build 3644,320,470 - 4,320,622RGDNCBI36
Celera44,167,192 - 4,167,344RGD
Cytogenetic Map4p16.3UniSTS
HuRef44,205,256 - 4,205,408UniSTS
GeneMap99-GB4 RH Map434.92UniSTS
G34214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,292,633 - 4,292,811UniSTSGRCh37
Build 3644,343,534 - 4,343,712RGDNCBI36
Celera44,190,258 - 4,190,436RGD
Cytogenetic Map4p16.3UniSTS
HuRef44,228,317 - 4,228,495UniSTS
D4S1359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,292,744 - 4,292,879UniSTSGRCh37
Build 3644,343,645 - 4,343,780RGDNCBI36
Celera44,190,369 - 4,190,504RGD
Cytogenetic Map4p16.3UniSTS
HuRef44,228,428 - 4,228,563UniSTS
TNG Radiation Hybrid Map42481.0UniSTS
LYAR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,281,195 - 4,281,441UniSTSGRCh37
Celera44,178,820 - 4,179,066UniSTS
HuRef44,216,888 - 4,217,134UniSTS


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 1673 1865 869 177 1404 142 3281 1265 1060 205 1314 1329 49 1153 2041 3
Low 759 1118 854 445 544 322 1074 927 2648 213 135 279 122 51 747 1
Below cutoff 1 1 1 1 1 2 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI418609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343470   ⟹   ENSP00000345917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl44,267,701 - 4,290,154 (-)Ensembl
RefSeq Acc Id: ENST00000452476   ⟹   ENSP00000397367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl44,267,704 - 4,290,021 (-)Ensembl
RefSeq Acc Id: ENST00000502917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl44,267,701 - 4,268,932 (-)Ensembl
RefSeq Acc Id: ENST00000513174   ⟹   ENSP00000420902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl44,281,783 - 4,290,038 (-)Ensembl
RefSeq Acc Id: NM_001145725   ⟹   NP_001139197
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,267,701 - 4,290,021 (-)NCBI
GRCh3744,269,428 - 4,291,896 (-)RGD
Celera44,167,051 - 4,189,521 (-)RGD
HuRef44,205,115 - 4,227,579 (-)RGD
CHM1_144,267,309 - 4,289,634 (-)NCBI
T2T-CHM13v2.044,237,159 - 4,259,485 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017816   ⟹   NP_060286
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,267,701 - 4,290,154 (-)NCBI
GRCh3744,269,428 - 4,291,896 (-)RGD
Build 3644,320,337 - 4,342,744 (-)NCBI Archive
Celera44,167,051 - 4,189,521 (-)RGD
HuRef44,205,115 - 4,227,579 (-)RGD
CHM1_144,267,309 - 4,289,782 (-)NCBI
T2T-CHM13v2.044,237,159 - 4,259,618 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513505   ⟹   XP_011511807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,267,701 - 4,290,154 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513506   ⟹   XP_011511808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,267,701 - 4,290,154 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054350460   ⟹   XP_054206435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.044,237,159 - 4,259,613 (-)NCBI
RefSeq Acc Id: XM_054350461   ⟹   XP_054206436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.044,237,159 - 4,259,618 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060286   ⟸   NM_017816
- UniProtKB: Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot),   Q9NX58 (UniProtKB/Swiss-Prot),   A8K3Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139197   ⟸   NM_001145725
- UniProtKB: Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot),   Q9NX58 (UniProtKB/Swiss-Prot),   A8K3Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511808   ⟸   XM_011513506
- Peptide Label: isoform X1
- UniProtKB: Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot),   Q9NX58 (UniProtKB/Swiss-Prot),   A8K3Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511807   ⟸   XM_011513505
- Peptide Label: isoform X1
- UniProtKB: Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot),   Q9NX58 (UniProtKB/Swiss-Prot),   A8K3Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000397367   ⟸   ENST00000452476
RefSeq Acc Id: ENSP00000420902   ⟸   ENST00000513174
RefSeq Acc Id: ENSP00000345917   ⟸   ENST00000343470
RefSeq Acc Id: XP_054206436   ⟸   XM_054350461
- Peptide Label: isoform X1
- UniProtKB: Q9NX58 (UniProtKB/Swiss-Prot),   Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206435   ⟸   XM_054350460
- Peptide Label: isoform X1
- UniProtKB: Q9NX58 (UniProtKB/Swiss-Prot),   Q6FI78 (UniProtKB/Swiss-Prot),   D3DVS4 (UniProtKB/Swiss-Prot),   Q9NYS1 (UniProtKB/Swiss-Prot)
Protein Domains
Acetyl-coA carboxylase zinc finger   Zinc finger C2H2 LYAR-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NX58-F1-model_v2 AlphaFold Q9NX58 1-379 view protein structure

Promoters
RGD ID:6866938
Promoter ID:EPDNEW_H6634
Type:initiation region
Name:LYAR_1
Description:Ly1 antibody reactive
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
GRCh3844,290,146 - 4,290,206EPDNEW
RGD ID:6802001
Promoter ID:HG_KWN:47761
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355834,   NM_001145725,   OTTHUMT00000206688,   OTTHUMT00000246800,   UC003GHV.1,   UC010ICY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3644,341,811 - 4,343,467 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26021 AgrOrtholog
COSMIC LYAR COSMIC
Ensembl Genes ENSG00000145220 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343470 ENTREZGENE
  ENST00000343470.9 UniProtKB/Swiss-Prot
  ENST00000452476 ENTREZGENE
  ENST00000452476.5 UniProtKB/Swiss-Prot
  ENST00000513174.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.2100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1490.490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145220 GTEx
HGNC ID HGNC:26021 ENTREZGENE
Human Proteome Map LYAR Human Proteome Map
InterPro LYAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf-ACC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_LYAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55646 UniProtKB/Swiss-Prot
NCBI Gene 55646 ENTREZGENE
OMIM 617684 OMIM
PANTHER CELL GROWTH-REGULATING NUCLEOLAR PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-ACC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-LYAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394697 PharmGKB
PROSITE ZF_C2HC_LYAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K3Y5 ENTREZGENE, UniProtKB/TrEMBL
  D3DVS4 ENTREZGENE
  D6RDJ1_HUMAN UniProtKB/TrEMBL
  LYAR_HUMAN UniProtKB/Swiss-Prot
  Q6FI78 ENTREZGENE
  Q9NX58 ENTREZGENE
  Q9NYS1 ENTREZGENE
UniProt Secondary D3DVS4 UniProtKB/Swiss-Prot
  Q6FI78 UniProtKB/Swiss-Prot
  Q9NYS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 LYAR  Ly1 antibody reactive    Ly1 antibody reactive homolog (mouse)  Symbol and/or name change 5135510 APPROVED