ISLR (immunoglobulin superfamily containing leucine rich repeat) - Rat Genome Database

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Gene: ISLR (immunoglobulin superfamily containing leucine rich repeat) Homo sapiens
Analyze
Symbol: ISLR
Name: immunoglobulin superfamily containing leucine rich repeat
RGD ID: 1602010
HGNC Page HGNC:6133
Description: Predicted to be involved in cell adhesion. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HsT17563; immunoglobulin superfamily containing leucine-rich repeat; Meflin; mesenchymal stromal cell- and fibroblast-expressing Linx paralogue; MGC102816
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
GRCh381574,173,710 - 74,176,871 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,173,710 - 74,176,872 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,466,051 - 74,469,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,253,140 - 72,256,265 (+)NCBINCBI36Build 36hg18NCBI36
Celera1551,413,268 - 51,416,393 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,259,758 - 51,262,883 (+)NCBIHuRef
CHM1_11574,584,282 - 74,587,407 (+)NCBICHM1_1
T2T-CHM13v2.01572,039,630 - 72,042,791 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9325048   PMID:10512678   PMID:12477932   PMID:12975309   PMID:22046132   PMID:23376485   PMID:23533145   PMID:26167880   PMID:26186194   PMID:26924503   PMID:28514442  
PMID:31221024   PMID:31439548   PMID:32060987   PMID:32128839   PMID:33197448   PMID:33961781   PMID:34713300   PMID:37796386  


Genomics

Comparative Map Data
ISLR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,173,710 - 74,176,871 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,173,710 - 74,176,872 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,466,051 - 74,469,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,253,140 - 72,256,265 (+)NCBINCBI36Build 36hg18NCBI36
Celera1551,413,268 - 51,416,393 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,259,758 - 51,262,883 (+)NCBIHuRef
CHM1_11574,584,282 - 74,587,407 (+)NCBICHM1_1
T2T-CHM13v2.01572,039,630 - 72,042,791 (+)NCBIT2T-CHM13v2.0
Islr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39958,063,547 - 58,066,563 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl958,063,551 - 58,111,589 (-)EnsemblGRCm39 Ensembl
GRCm38958,156,246 - 58,159,236 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,156,268 - 58,204,306 (-)EnsemblGRCm38mm10GRCm38
MGSCv37958,004,076 - 58,006,949 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36957,954,406 - 57,957,279 (-)NCBIMGSCv36mm8
Celera955,390,484 - 55,393,393 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.63NCBI
Islr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8867,467,013 - 67,469,989 (-)NCBIGRCr8
mRatBN7.2858,571,155 - 58,574,128 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl858,570,777 - 58,574,130 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx864,101,715 - 64,103,960 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0862,379,274 - 62,381,519 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0860,243,841 - 60,246,086 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0862,946,732 - 62,949,675 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl862,946,732 - 62,948,720 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0862,722,822 - 62,725,747 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera858,035,013 - 58,037,258 (-)NCBICelera
Cytogenetic Map8q24NCBI
Islr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554503,604,116 - 3,607,126 (-)NCBIChiLan1.0ChiLan1.0
ISLR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21663,397,405 - 63,400,652 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11567,561,067 - 67,564,247 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01553,112,206 - 53,115,367 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11572,735,143 - 72,738,344 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1572,736,331 - 72,737,617 (+)Ensemblpanpan1.1panPan2
ISLR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,326,212 - 37,329,352 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,327,228 - 37,328,616 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,261,848 - 37,264,976 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03037,533,286 - 37,536,414 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3037,533,319 - 37,536,409 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13037,485,414 - 37,488,542 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03037,511,327 - 37,514,455 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03037,766,892 - 37,770,020 (+)NCBIUU_Cfam_GSD_1.0
Islr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640115,370,510 - 115,373,763 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647133,218,805 - 33,221,785 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647133,218,841 - 33,221,826 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ISLR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,349,675 - 59,352,839 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,349,674 - 59,352,936 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2763,967,908 - 63,971,170 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ISLR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,313,819 - 9,316,785 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl269,314,572 - 9,315,858 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048132,306,221 - 132,309,434 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Islr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624781414,918 - 417,947 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISLR
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
NM_005545.3(ISLR):c.917C>T (p.Ala306Val) single nucleotide variant Malignant melanoma [RCV000070883] Chr15:74175775 [GRCh38]
Chr15:74468116 [GRCh37]
Chr15:72255169 [NCBI36]
Chr15:15q24.1		 not provided
NM_005545.3(ISLR):c.564C>T (p.Ile188=) single nucleotide variant Malignant melanoma [RCV000062922] Chr15:74175422 [GRCh38]
Chr15:74467763 [GRCh37]
Chr15:72254816 [NCBI36]
Chr15:15q24.1		 not provided
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2		 likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_005545.4(ISLR):c.167G>A (p.Ser56Asn) single nucleotide variant Inborn genetic diseases [RCV003292821] Chr15:74175025 [GRCh38]
Chr15:74467366 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.908G>A (p.Arg303His) single nucleotide variant Inborn genetic diseases [RCV003284765] Chr15:74175766 [GRCh38]
Chr15:74468107 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.446G>A (p.Arg149His) single nucleotide variant Inborn genetic diseases [RCV003242705] Chr15:74175304 [GRCh38]
Chr15:74467645 [GRCh37]
Chr15:15q24.1		 uncertain significance
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.1(chr15:74408834-74622533)x3 copy number gain not provided [RCV000683706] Chr15:74408834..74622533 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3 copy number gain not provided [RCV000683705] Chr15:74315568..74654641 [GRCh37]
Chr15:15q24.1		 uncertain significance
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2		 likely pathogenic
GRCh37/hg19 15q24.1(chr15:74431715-74494621)x3 copy number gain not provided [RCV000738821] Chr15:74431715..74494621 [GRCh37]
Chr15:15q24.1		 benign
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3		 likely pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_005545.4(ISLR):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV000970718] Chr15:74174903 [GRCh38]
Chr15:74467244 [GRCh37]
Chr15:15q24.1		 benign
NM_005545.4(ISLR):c.121C>G (p.Leu41Val) single nucleotide variant Inborn genetic diseases [RCV003266436] Chr15:74174979 [GRCh38]
Chr15:74467320 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_005545.4(ISLR):c.534C>T (p.Asn178=) single nucleotide variant not provided [RCV000962530] Chr15:74175392 [GRCh38]
Chr15:74467733 [GRCh37]
Chr15:15q24.1		 benign
NM_005545.4(ISLR):c.129C>T (p.Ser43=) single nucleotide variant not provided [RCV000960869] Chr15:74174987 [GRCh38]
Chr15:74467328 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) copy number loss Hearing impairment [RCV002280767] Chr15:74398068..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.250A>T (p.Asn84Tyr) single nucleotide variant Inborn genetic diseases [RCV003258415] Chr15:74175108 [GRCh38]
Chr15:74467449 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 copy number loss not provided [RCV002474580] Chr15:74353736..77884397 [GRCh37]
Chr15:15q24.1-24.3		 pathogenic
NM_005545.4(ISLR):c.103G>A (p.Asp35Asn) single nucleotide variant Inborn genetic diseases [RCV002779306] Chr15:74174961 [GRCh38]
Chr15:74467302 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.565G>A (p.Val189Met) single nucleotide variant Inborn genetic diseases [RCV002683356] Chr15:74175423 [GRCh38]
Chr15:74467764 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.593C>T (p.Thr198Met) single nucleotide variant Inborn genetic diseases [RCV002883781] Chr15:74175451 [GRCh38]
Chr15:74467792 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.804C>G (p.His268Gln) single nucleotide variant Inborn genetic diseases [RCV002992833] Chr15:74175662 [GRCh38]
Chr15:74468003 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.1112C>T (p.Thr371Met) single nucleotide variant Inborn genetic diseases [RCV002732209] Chr15:74175970 [GRCh38]
Chr15:74468311 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.625G>A (p.Ala209Thr) single nucleotide variant Inborn genetic diseases [RCV002749409] Chr15:74175483 [GRCh38]
Chr15:74467824 [GRCh37]
Chr15:15q24.1		 likely benign
NM_005545.4(ISLR):c.1018G>A (p.Val340Met) single nucleotide variant Inborn genetic diseases [RCV002869993] Chr15:74175876 [GRCh38]
Chr15:74468217 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.670C>G (p.Leu224Val) single nucleotide variant Inborn genetic diseases [RCV002924996] Chr15:74175528 [GRCh38]
Chr15:74467869 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.512C>T (p.Ala171Val) single nucleotide variant Inborn genetic diseases [RCV002694582] Chr15:74175370 [GRCh38]
Chr15:74467711 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.877C>A (p.Pro293Thr) single nucleotide variant Inborn genetic diseases [RCV002925285] Chr15:74175735 [GRCh38]
Chr15:74468076 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.1037C>T (p.Thr346Met) single nucleotide variant Inborn genetic diseases [RCV002956172] Chr15:74175895 [GRCh38]
Chr15:74468236 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.853G>A (p.Val285Met) single nucleotide variant Inborn genetic diseases [RCV003004001] Chr15:74175711 [GRCh38]
Chr15:74468052 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.743G>A (p.Arg248Gln) single nucleotide variant Inborn genetic diseases [RCV002981908] Chr15:74175601 [GRCh38]
Chr15:74467942 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.1141C>T (p.Pro381Ser) single nucleotide variant Inborn genetic diseases [RCV002764178] Chr15:74175999 [GRCh38]
Chr15:74468340 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.742C>T (p.Arg248Trp) single nucleotide variant Inborn genetic diseases [RCV002874827] Chr15:74175600 [GRCh38]
Chr15:74467941 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.559G>A (p.Gly187Ser) single nucleotide variant Inborn genetic diseases [RCV002893026] Chr15:74175417 [GRCh38]
Chr15:74467758 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005545.4(ISLR):c.1039C>A (p.Pro347Thr) single nucleotide variant Inborn genetic diseases [RCV002808410] Chr15:74175897 [GRCh38]
Chr15:74468238 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1405
Count of miRNA genes:638
Interacting mature miRNAs:709
Transcripts:ENST00000249842, ENST00000395118, ENST00000559510, ENST00000560862
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
STS-Z38345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,469,057 - 74,469,148UniSTSGRCh37
Build 361572,256,110 - 72,256,201RGDNCBI36
Celera1551,416,238 - 51,416,329RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,262,728 - 51,262,819UniSTS
GeneMap99-GB4 RH Map15255.26UniSTS
Bdy23b10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,468,844 - 74,468,977UniSTSGRCh37
Build 361572,255,897 - 72,256,030RGDNCBI36
Celera1551,416,025 - 51,416,158RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,262,515 - 51,262,648UniSTS
GeneMap99-GB4 RH Map15258.61UniSTS


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 1
Medium 2085 1994 1275 240 506 85 3614 1475 1278 187 1296 1372 155 1200 2325 1
Low 235 314 397 343 234 336 681 692 2388 173 76 93 10 4 463 2
Below cutoff 17 645 29 23 865 24 26 18 42 33 28 80 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB024536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB024537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BR001380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000249842   ⟹   ENSP00000249842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,173,710 - 74,176,871 (+)Ensembl
RefSeq Acc Id: ENST00000395118   ⟹   ENSP00000378550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,174,501 - 74,176,872 (+)Ensembl
RefSeq Acc Id: ENST00000559510   ⟹   ENSP00000453884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,174,130 - 74,175,299 (+)Ensembl
RefSeq Acc Id: ENST00000560862   ⟹   ENSP00000453105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,174,403 - 74,175,409 (+)Ensembl
RefSeq Acc Id: NM_005545   ⟹   NP_005536
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,173,710 - 74,176,871 (+)NCBI
GRCh371574,466,087 - 74,469,212 (+)RGD
Build 361572,253,140 - 72,256,265 (+)NCBI Archive
Celera1551,413,268 - 51,416,393 (+)RGD
HuRef1551,259,758 - 51,262,883 (+)RGD
CHM1_11574,584,282 - 74,587,407 (+)NCBI
T2T-CHM13v2.01572,039,630 - 72,042,791 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201526   ⟹   NP_958934
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,174,547 - 74,176,871 (+)NCBI
GRCh371574,466,087 - 74,469,212 (+)RGD
Build 361572,253,958 - 72,256,265 (+)NCBI Archive
Celera1551,413,268 - 51,416,393 (+)RGD
HuRef1551,259,758 - 51,262,883 (+)RGD
CHM1_11574,585,100 - 74,587,407 (+)NCBI
T2T-CHM13v2.01572,040,467 - 72,042,791 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005536   ⟸   NM_005545
- Peptide Label: precursor
- UniProtKB: O14498 (UniProtKB/Swiss-Prot),   A0A146E5L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_958934   ⟸   NM_201526
- Peptide Label: precursor
- UniProtKB: O14498 (UniProtKB/Swiss-Prot),   A0A146E5L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453884   ⟸   ENST00000559510
RefSeq Acc Id: ENSP00000453105   ⟸   ENST00000560862
RefSeq Acc Id: ENSP00000249842   ⟸   ENST00000249842
RefSeq Acc Id: ENSP00000378550   ⟸   ENST00000395118
Protein Domains
Ig-like   LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14498-F1-model_v2 AlphaFold O14498 1-428 view protein structure

Promoters
RGD ID:7230069
Promoter ID:EPDNEW_H20780
Type:initiation region
Name:ISLR_2
Description:immunoglobulin superfamily containing leucine rich repeat
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20781  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,173,742 - 74,173,802EPDNEW
RGD ID:7230071
Promoter ID:EPDNEW_H20781
Type:initiation region
Name:ISLR_1
Description:immunoglobulin superfamily containing leucine rich repeat
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20780  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,174,547 - 74,174,607EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6133 AgrOrtholog
COSMIC ISLR COSMIC
Ensembl Genes ENSG00000129009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288508 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000249842 ENTREZGENE
  ENST00000249842.8 UniProtKB/Swiss-Prot
  ENST00000395118 ENTREZGENE
  ENST00000395118.1 UniProtKB/Swiss-Prot
  ENST00000559510.1 UniProtKB/TrEMBL
  ENST00000560862.1 UniProtKB/TrEMBL
  ENST00000671810.1 UniProtKB/Swiss-Prot
  ENST00000672683.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129009 GTEx
  ENSG00000288508 GTEx
HGNC ID HGNC:6133 ENTREZGENE
Human Proteome Map ISLR Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3671 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3671 ENTREZGENE
OMIM 602059 OMIM
PANTHER IG(IMMUNOGLOBULIN) AND LRR(LEUCINE RICH REPEAT) DOMAINS UniProtKB/TrEMBL
  IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT PROTEIN UniProtKB/TrEMBL
  KEKKON 5, ISOFORM A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIT RELATED LEUCINE-RICH REPEAT NEURONAL PROTEIN UniProtKB/TrEMBL
  SYNAPTIC ADHESION-LIKE MOLECULE SALM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSUKUSHI UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29933 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A146E5L3 ENTREZGENE, UniProtKB/TrEMBL
  H0YL90_HUMAN UniProtKB/TrEMBL
  H0YN67_HUMAN UniProtKB/TrEMBL
  ISLR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 ISLR  immunoglobulin superfamily containing leucine rich repeat    immunoglobulin superfamily containing leucine-rich repeat  Symbol and/or name change 5135510 APPROVED