IGSF9 (immunoglobulin superfamily member 9) - Rat Genome Database

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Gene: IGSF9 (immunoglobulin superfamily member 9) Homo sapiens
Analyze
Symbol: IGSF9
Name: immunoglobulin superfamily member 9
RGD ID: 1312078
HGNC Page HGNC:18132
Description: Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to act upstream of or within dendrite development and regulation of synapse organization. Predicted to be located in dendrite; inhibitory synapse; and membrane. Predicted to be active in axon and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FP18798; IGSF9A; immunoglobulin superfamily member 9A; immunoglobulin superfamily, member 9; KIAA1355; Nrt1; protein turtle homolog A; turtle homolog A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381159,927,041 - 159,945,613 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1159,927,039 - 159,945,613 (-)EnsemblGRCh38hg38GRCh38
GRCh371159,896,831 - 159,915,403 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,163,455 - 158,182,010 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,709,904 - 156,728,459NCBI
Celera1132,965,270 - 132,983,825 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,253,542 - 131,272,097 (-)NCBIHuRef
CHM1_11161,292,158 - 161,310,711 (-)NCBICHM1_1
T2T-CHM13v2.01159,064,110 - 159,082,679 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8889548   PMID:10718198   PMID:11312296   PMID:11991715   PMID:12477932   PMID:12975309   PMID:14702039   PMID:16169070   PMID:21653829   PMID:21873635   PMID:28611215   PMID:29500156  
PMID:32296183   PMID:33961781   PMID:35013309   PMID:36088502   PMID:36639264  


Genomics

Comparative Map Data
IGSF9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381159,927,041 - 159,945,613 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1159,927,039 - 159,945,613 (-)EnsemblGRCh38hg38GRCh38
GRCh371159,896,831 - 159,915,403 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,163,455 - 158,182,010 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,709,904 - 156,728,459NCBI
Celera1132,965,270 - 132,983,825 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,253,542 - 131,272,097 (-)NCBIHuRef
CHM1_11161,292,158 - 161,310,711 (-)NCBICHM1_1
T2T-CHM13v2.01159,064,110 - 159,082,679 (-)NCBIT2T-CHM13v2.0
Igsf9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,307,616 - 172,326,444 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,309,355 - 172,326,445 (+)EnsemblGRCm39 Ensembl
GRCm381172,481,573 - 172,498,877 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,481,788 - 172,498,878 (+)EnsemblGRCm38mm10GRCm38
MGSCv371174,412,344 - 174,429,008 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,318,992 - 174,335,553 (+)NCBIMGSCv36mm8
Celera1175,335,711 - 175,352,367 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.86NCBI
Igsf9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81387,480,979 - 87,497,974 (+)NCBIGRCr8
mRatBN7.21384,948,643 - 84,965,616 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1384,948,619 - 84,965,607 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1387,452,351 - 87,468,970 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01388,852,624 - 88,869,243 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01386,037,362 - 86,053,983 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01390,809,459 - 90,832,300 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1390,815,562 - 90,832,469 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01395,388,686 - 95,405,645 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41388,487,239 - 88,503,824 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11388,678,088 - 88,692,606 (+)NCBI
Celera1384,558,646 - 84,575,230 (+)NCBICelera
Cytogenetic Map13q24NCBI
Igsf9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546811,722,442 - 11,740,932 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546811,722,716 - 11,741,622 (-)NCBIChiLan1.0ChiLan1.0
IGSF9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,904,982 - 89,927,130 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1189,644,985 - 89,667,147 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01135,278,902 - 135,297,887 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11139,199,466 - 139,218,482 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1139,199,466 - 139,218,482 (-)Ensemblpanpan1.1panPan2
IGSF9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13822,207,323 - 22,222,832 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3822,206,660 - 22,222,823 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3822,283,603 - 22,300,706 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03822,328,879 - 22,345,834 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3822,328,933 - 22,345,830 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.03822,628,568 - 22,645,630 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03823,039,987 - 23,056,085 (+)NCBIUU_Cfam_GSD_1.0
Igsf9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050586,066,386 - 6,086,075 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936740670,306 - 688,154 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936740669,101 - 688,124 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl490,544,238 - 90,564,165 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1490,543,766 - 90,564,174 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2498,551,648 - 98,564,864 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1204,004,936 - 4,023,451 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl204,007,086 - 4,023,444 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660383,062,719 - 3,081,717 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igsf9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247941,314,560 - 1,329,514 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247941,312,095 - 1,329,449 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGSF9
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
NM_001135050.1(IGSF9):c.248G>A (p.Gly83Glu) single nucleotide variant Malignant melanoma [RCV000064252] Chr1:159937838 [GRCh38]
Chr1:159907628 [GRCh37]
Chr1:158174252 [NCBI36]
Chr1:1q23.2		 not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001135050.2(IGSF9):c.2684C>A (p.Pro895His) single nucleotide variant not specified [RCV004298694] Chr1:159928704 [GRCh38]
Chr1:159898494 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1646G>A (p.Arg549His) single nucleotide variant not specified [RCV004318466] Chr1:159930859 [GRCh38]
Chr1:159900649 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q23.2(chr1:159912346-159983029)x3 copy number gain not provided [RCV000736718] Chr1:159912346..159983029 [GRCh37]
Chr1:1q23.2		 benign
NM_001135050.2(IGSF9):c.1109C>T (p.Pro370Leu) single nucleotide variant not provided [RCV000905473] Chr1:159932648 [GRCh38]
Chr1:159902438 [GRCh37]
Chr1:1q23.2		 likely benign
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 copy number gain not provided [RCV000846649] Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_001135050.2(IGSF9):c.62G>A (p.Arg21Gln) single nucleotide variant not specified [RCV004320764] Chr1:159943148 [GRCh38]
Chr1:159912938 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2878C>T (p.Arg960Cys) single nucleotide variant not specified [RCV004298366] Chr1:159928510 [GRCh38]
Chr1:159898300 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.747T>C (p.His249=) single nucleotide variant not provided [RCV001659214] Chr1:159934749 [GRCh38]
Chr1:159904539 [GRCh37]
Chr1:1q23.2		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q23.2(chr1:159875152-159930959)x1 copy number loss not provided [RCV001832955] Chr1:159875152..159930959 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 copy number gain not provided [RCV002474924] Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_001135050.2(IGSF9):c.2162A>G (p.Tyr721Cys) single nucleotide variant not specified [RCV004170052] Chr1:159929802 [GRCh38]
Chr1:159899592 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.370A>G (p.Asn124Asp) single nucleotide variant not specified [RCV004216004] Chr1:159937716 [GRCh38]
Chr1:159907506 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2944C>T (p.Pro982Ser) single nucleotide variant not specified [RCV004198212] Chr1:159928444 [GRCh38]
Chr1:159898234 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.427C>T (p.Pro143Ser) single nucleotide variant not specified [RCV004237842] Chr1:159936882 [GRCh38]
Chr1:159906672 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.149C>T (p.Pro50Leu) single nucleotide variant not specified [RCV004193244] Chr1:159943061 [GRCh38]
Chr1:159912851 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2705A>T (p.Asp902Val) single nucleotide variant not specified [RCV004135211] Chr1:159928683 [GRCh38]
Chr1:159898473 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1750G>C (p.Val584Leu) single nucleotide variant not specified [RCV004101572] Chr1:159930755 [GRCh38]
Chr1:159900545 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2269G>A (p.Gly757Ser) single nucleotide variant not specified [RCV004177192] Chr1:159929695 [GRCh38]
Chr1:159899485 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3328C>T (p.Arg1110Trp) single nucleotide variant not specified [RCV004241162] Chr1:159927790 [GRCh38]
Chr1:159897580 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1012A>G (p.Met338Val) single nucleotide variant not specified [RCV004195223] Chr1:159934282 [GRCh38]
Chr1:159904072 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2404G>T (p.Ala802Ser) single nucleotide variant not specified [RCV004199459] Chr1:159928984 [GRCh38]
Chr1:159898774 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2485C>A (p.Pro829Thr) single nucleotide variant not specified [RCV004156298] Chr1:159928903 [GRCh38]
Chr1:159898693 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1655G>A (p.Arg552Gln) single nucleotide variant not specified [RCV004119348] Chr1:159930850 [GRCh38]
Chr1:159900640 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1301G>A (p.Arg434Gln) single nucleotide variant not specified [RCV004121823] Chr1:159931873 [GRCh38]
Chr1:159901663 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.328G>C (p.Val110Leu) single nucleotide variant not specified [RCV004158753] Chr1:159937758 [GRCh38]
Chr1:159907548 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3208C>T (p.His1070Tyr) single nucleotide variant not specified [RCV004178266] Chr1:159928180 [GRCh38]
Chr1:159897970 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1804G>C (p.Ala602Pro) single nucleotide variant not specified [RCV004171600] Chr1:159930701 [GRCh38]
Chr1:159900491 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.155T>C (p.Leu52Pro) single nucleotide variant not specified [RCV004148594] Chr1:159943055 [GRCh38]
Chr1:159912845 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.982A>G (p.Met328Val) single nucleotide variant not specified [RCV004230278] Chr1:159934312 [GRCh38]
Chr1:159904102 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2927C>A (p.Ser976Tyr) single nucleotide variant not specified [RCV004185115] Chr1:159928461 [GRCh38]
Chr1:159898251 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2488C>G (p.His830Asp) single nucleotide variant not specified [RCV004174649] Chr1:159928900 [GRCh38]
Chr1:159898690 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1370G>A (p.Arg457Gln) single nucleotide variant not specified [RCV004228184] Chr1:159931596 [GRCh38]
Chr1:159901386 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.158A>C (p.His53Pro) single nucleotide variant not specified [RCV004126219] Chr1:159943052 [GRCh38]
Chr1:159912842 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.859C>T (p.Arg287Trp) single nucleotide variant not specified [RCV004225526] Chr1:159934527 [GRCh38]
Chr1:159904317 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.139G>A (p.Ala47Thr) single nucleotide variant not specified [RCV004094750] Chr1:159943071 [GRCh38]
Chr1:159912861 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.349A>G (p.Ile117Val) single nucleotide variant not specified [RCV004232952] Chr1:159937737 [GRCh38]
Chr1:159907527 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1324G>T (p.Ala442Ser) single nucleotide variant not specified [RCV004157883] Chr1:159931850 [GRCh38]
Chr1:159901640 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.29T>G (p.Leu10Arg) single nucleotide variant not specified [RCV004135566] Chr1:159943426 [GRCh38]
Chr1:159913216 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1285T>G (p.Phe429Val) single nucleotide variant not specified [RCV004124797] Chr1:159931889 [GRCh38]
Chr1:159901679 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3419C>T (p.Ala1140Val) single nucleotide variant not specified [RCV004155253] Chr1:159927466 [GRCh38]
Chr1:159897256 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1874C>T (p.Ser625Phe) single nucleotide variant not specified [RCV004173324] Chr1:159930379 [GRCh38]
Chr1:159900169 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1690G>A (p.Val564Met) single nucleotide variant not specified [RCV004090496] Chr1:159930815 [GRCh38]
Chr1:159900605 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.149C>G (p.Pro50Arg) single nucleotide variant not specified [RCV004208103] Chr1:159943061 [GRCh38]
Chr1:159912851 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2099C>T (p.Ala700Val) single nucleotide variant not specified [RCV004147906] Chr1:159929941 [GRCh38]
Chr1:159899731 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2551G>A (p.Gly851Arg) single nucleotide variant not specified [RCV004221405] Chr1:159928837 [GRCh38]
Chr1:159898627 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2461G>A (p.Gly821Arg) single nucleotide variant not specified [RCV004176332] Chr1:159928927 [GRCh38]
Chr1:159898717 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1210G>A (p.Ala404Thr) single nucleotide variant not specified [RCV004153637] Chr1:159932547 [GRCh38]
Chr1:159902337 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2270G>C (p.Gly757Ala) single nucleotide variant not specified [RCV004329394] Chr1:159929694 [GRCh38]
Chr1:159899484 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.1715C>G (p.Pro572Arg) single nucleotide variant not specified [RCV004252668] Chr1:159930790 [GRCh38]
Chr1:159900580 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2641G>A (p.Ala881Thr) single nucleotide variant not specified [RCV004279441] Chr1:159928747 [GRCh38]
Chr1:159898537 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2183C>T (p.Pro728Leu) single nucleotide variant not specified [RCV004251061] Chr1:159929781 [GRCh38]
Chr1:159899571 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2089G>A (p.Val697Met) single nucleotide variant not specified [RCV004250229] Chr1:159929951 [GRCh38]
Chr1:159899741 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1039C>T (p.Arg347Cys) single nucleotide variant not specified [RCV004249463] Chr1:159934255 [GRCh38]
Chr1:159904045 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1743G>C (p.Gln581His) single nucleotide variant not specified [RCV004255175] Chr1:159930762 [GRCh38]
Chr1:159900552 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3395C>T (p.Thr1132Ile) single nucleotide variant not specified [RCV004316007] Chr1:159927490 [GRCh38]
Chr1:159897280 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.149C>A (p.Pro50His) single nucleotide variant not specified [RCV004252587] Chr1:159943061 [GRCh38]
Chr1:159912851 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1909C>T (p.Arg637Trp) single nucleotide variant not specified [RCV004266675] Chr1:159930344 [GRCh38]
Chr1:159900134 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2876G>A (p.Arg959Gln) single nucleotide variant not specified [RCV004349587] Chr1:159928512 [GRCh38]
Chr1:159898302 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3310C>G (p.Leu1104Val) single nucleotide variant not specified [RCV004345263] Chr1:159927808 [GRCh38]
Chr1:159897598 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1268G>A (p.Arg423Gln) single nucleotide variant not specified [RCV004341054] Chr1:159931906 [GRCh38]
Chr1:159901696 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.227G>A (p.Arg76Gln) single nucleotide variant not specified [RCV004353823] Chr1:159942983 [GRCh38]
Chr1:159912773 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1246G>C (p.Ala416Pro) single nucleotide variant not specified [RCV004341454] Chr1:159931928 [GRCh38]
Chr1:159901718 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.83C>T (p.Ser28Leu) single nucleotide variant not specified [RCV004343959] Chr1:159943127 [GRCh38]
Chr1:159912917 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_001135050.2(IGSF9):c.1212C>T (p.Ala404=) single nucleotide variant not provided [RCV003409183] Chr1:159932545 [GRCh38]
Chr1:159902335 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.291T>C (p.Gly97=) single nucleotide variant not provided [RCV003409184] Chr1:159937795 [GRCh38]
Chr1:159907585 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.1290A>C (p.Gln430His) single nucleotide variant not specified [RCV004402831] Chr1:159931884 [GRCh38]
Chr1:159901674 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1342C>T (p.Pro448Ser) single nucleotide variant not specified [RCV004402834] Chr1:159931832 [GRCh38]
Chr1:159901622 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1847C>T (p.Pro616Leu) single nucleotide variant not specified [RCV004402838] Chr1:159930406 [GRCh38]
Chr1:159900196 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1948C>A (p.Pro650Thr) single nucleotide variant not specified [RCV004402839] Chr1:159930305 [GRCh38]
Chr1:159900095 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2015C>G (p.Pro672Arg) single nucleotide variant not specified [RCV004402840] Chr1:159930238 [GRCh38]
Chr1:159900028 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.133C>T (p.Pro45Ser) single nucleotide variant not specified [RCV004402833] Chr1:159943077 [GRCh38]
Chr1:159912867 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1546G>C (p.Val516Leu) single nucleotide variant not specified [RCV004402835] Chr1:159931229 [GRCh38]
Chr1:159901019 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.1702C>T (p.His568Tyr) single nucleotide variant not specified [RCV004402837] Chr1:159930803 [GRCh38]
Chr1:159900593 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2126A>G (p.Asn709Ser) single nucleotide variant not specified [RCV004402841] Chr1:159929914 [GRCh38]
Chr1:159899704 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2594G>A (p.Arg865Lys) single nucleotide variant not specified [RCV004402846] Chr1:159928794 [GRCh38]
Chr1:159898584 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.2909C>T (p.Pro970Leu) single nucleotide variant not specified [RCV004402851] Chr1:159928479 [GRCh38]
Chr1:159898269 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001135050.2(IGSF9):c.569C>T (p.Thr190Met) single nucleotide variant not specified [RCV004402853] Chr1:159936503 [GRCh38]
Chr1:159906293 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2339T>C (p.Ile780Thr) single nucleotide variant not specified [RCV004402843] Chr1:159929381 [GRCh38]
Chr1:159899171 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2399G>C (p.Ser800Thr) single nucleotide variant not specified [RCV004402844] Chr1:159928989 [GRCh38]
Chr1:159898779 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2516C>G (p.Pro839Arg) single nucleotide variant not specified [RCV004402845] Chr1:159928872 [GRCh38]
Chr1:159898662 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2683C>A (p.Pro895Thr) single nucleotide variant not specified [RCV004402847] Chr1:159928705 [GRCh38]
Chr1:159898495 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2728C>T (p.Pro910Ser) single nucleotide variant not specified [RCV004402848] Chr1:159928660 [GRCh38]
Chr1:159898450 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2762G>A (p.Gly921Glu) single nucleotide variant not specified [RCV004402849] Chr1:159928626 [GRCh38]
Chr1:159898416 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2774A>G (p.Gln925Arg) single nucleotide variant not specified [RCV004402850] Chr1:159928614 [GRCh38]
Chr1:159898404 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.3467G>A (p.Arg1156Gln) single nucleotide variant not specified [RCV004402852] Chr1:159927418 [GRCh38]
Chr1:159897208 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.677C>T (p.Pro226Leu) single nucleotide variant not specified [RCV004402854] Chr1:159934819 [GRCh38]
Chr1:159904609 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001135050.2(IGSF9):c.2072T>C (p.Leu691Pro) single nucleotide variant not specified [RCV004346726] Chr1:159929968 [GRCh38]
Chr1:159899758 [GRCh37]
Chr1:1q23.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:672
Count of miRNA genes:264
Interacting mature miRNAs:279
Transcripts:ENST00000361509, ENST00000368094, ENST00000476102, ENST00000493195, ENST00000496645
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.


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 427 7 178 212 74 172 1388 12 46 45 678 166 49 135 641
Low 586 280 1194 376 367 258 219 46 769 119 632 1177 121 358 106 3
Below cutoff 1402 2620 331 27 1071 27 2616 2037 2883 201 130 249 702 1958 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000361509   ⟹   ENSP00000355049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,039 - 159,945,596 (-)Ensembl
RefSeq Acc Id: ENST00000368094   ⟹   ENSP00000357073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,041 - 159,945,613 (-)Ensembl
RefSeq Acc Id: ENST00000476102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,039 - 159,945,593 (-)Ensembl
RefSeq Acc Id: ENST00000493195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,039 - 159,933,934 (-)Ensembl
RefSeq Acc Id: ENST00000496645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,039 - 159,932,469 (-)Ensembl
RefSeq Acc Id: ENST00000611023   ⟹   ENSP00000483854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,927,042 - 159,945,604 (-)Ensembl
RefSeq Acc Id: NM_001135050   ⟹   NP_001128522
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381159,927,041 - 159,945,613 (-)NCBI
GRCh371159,896,829 - 159,915,386 (-)RGD
Celera1132,965,270 - 132,983,825 (-)RGD
HuRef1131,253,542 - 131,272,097 (-)ENTREZGENE
CHM1_11161,292,158 - 161,310,711 (-)NCBI
T2T-CHM13v2.01159,064,110 - 159,082,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020789   ⟹   NP_065840
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381159,927,041 - 159,945,613 (-)NCBI
GRCh371159,896,829 - 159,915,386 (-)RGD
Build 361158,163,455 - 158,182,010 (-)NCBI Archive
Celera1132,965,270 - 132,983,825 (-)RGD
HuRef1131,253,542 - 131,272,097 (-)ENTREZGENE
CHM1_11161,292,158 - 161,310,711 (-)NCBI
T2T-CHM13v2.01159,064,110 - 159,082,679 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001128522   ⟸   NM_001135050
- Peptide Label: isoform a precursor
- UniProtKB: Q9P2J2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065840   ⟸   NM_020789
- Peptide Label: isoform b precursor
- UniProtKB: Q9P2J2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000355049   ⟸   ENST00000361509
RefSeq Acc Id: ENSP00000483854   ⟸   ENST00000611023
RefSeq Acc Id: ENSP00000357073   ⟸   ENST00000368094
Protein Domains
Fibronectin type-III   Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2J2-F1-model_v2 AlphaFold Q9P2J2 1-1179 view protein structure

Promoters
RGD ID:6809578
Promoter ID:HG_ACW:4411
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:IGSF9.FAPR07,   IGSF9.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361158,165,996 - 158,166,496 (-)MPROMDB
RGD ID:6785773
Promoter ID:HG_KWN:5720
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:NM_001135050,   NM_020789,   OTTHUMT00000059118
Position:
Human AssemblyChrPosition (strand)Source
Build 361158,181,971 - 158,182,471 (-)MPROMDB
RGD ID:6857748
Promoter ID:EPDNEW_H2039
Type:initiation region
Name:IGSF9_1
Description:immunoglobulin superfamily member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2040  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381159,945,613 - 159,945,673EPDNEW
RGD ID:6857750
Promoter ID:EPDNEW_H2040
Type:initiation region
Name:IGSF9_2
Description:immunoglobulin superfamily member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2039  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381159,946,020 - 159,946,080EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18132 AgrOrtholog
COSMIC IGSF9 COSMIC
Ensembl Genes ENSG00000085552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361509 ENTREZGENE
  ENST00000361509.7 UniProtKB/Swiss-Prot
  ENST00000368094 ENTREZGENE
  ENST00000368094.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000085552 GTEx
HGNC ID HGNC:18132 ENTREZGENE
Human Proteome Map IGSF9 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
KEGG Report hsa:57549 UniProtKB/Swiss-Prot
NCBI Gene 57549 ENTREZGENE
OMIM 609738 OMIM
PANTHER PROTEIN SIDEKICK UniProtKB/Swiss-Prot
  PROTEIN TURTLE HOMOLOG A UniProtKB/Swiss-Prot
Pfam fn3 UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
PharmGKB PA38508 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt Q9P2J2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF9  immunoglobulin superfamily member 9    immunoglobulin superfamily, member 9  Symbol and/or name change 5135510 APPROVED