ITFG1 (integrin alpha FG-GAP repeat containing 1) - Rat Genome Database

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Gene: ITFG1 (integrin alpha FG-GAP repeat containing 1) Homo sapiens
Analyze
Symbol: ITFG1
Name: integrin alpha FG-GAP repeat containing 1
RGD ID: 735534
HGNC Page HGNC:30697
Description: Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2310047C21Rik; CDA08; hypothetical protein cda08; integrin-alpha FG-GAP repeat-containing protein 1; LINKIN; LNKN-1; T cell immunomodulatory protein; T-cell immunomodulatory protein; TIP
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
GRCh381647,154,391 - 47,461,246 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1647,154,387 - 47,464,149 (-)EnsemblGRCh38hg38GRCh38
GRCh371647,188,302 - 47,495,157 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361645,746,798 - 46,052,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 341645,746,800 - 46,052,516NCBI
Celera1631,697,397 - 32,002,959 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1633,078,995 - 33,385,580 (-)NCBIHuRef
CHM1_11648,596,276 - 48,902,048 (-)NCBICHM1_1
T2T-CHM13v2.01652,951,220 - 53,258,064 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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:12477932   PMID:12598909   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17384681   PMID:20379614   PMID:21873635   PMID:21900206   PMID:22268729   PMID:23533145  
PMID:25437307   PMID:26186194   PMID:28341484   PMID:28514442   PMID:28611215   PMID:29180619   PMID:29987050   PMID:32409323   PMID:33961781   PMID:35337019   PMID:35696571   PMID:36215168  


Genomics

Comparative Map Data
ITFG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381647,154,391 - 47,461,246 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1647,154,387 - 47,464,149 (-)EnsemblGRCh38hg38GRCh38
GRCh371647,188,302 - 47,495,157 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361645,746,798 - 46,052,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 341645,746,800 - 46,052,516NCBI
Celera1631,697,397 - 32,002,959 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1633,078,995 - 33,385,580 (-)NCBIHuRef
CHM1_11648,596,276 - 48,902,048 (-)NCBICHM1_1
T2T-CHM13v2.01652,951,220 - 53,258,064 (-)NCBIT2T-CHM13v2.0
Itfg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39886,444,186 - 86,567,578 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl886,444,207 - 86,567,550 (-)EnsemblGRCm39 Ensembl
GRCm38885,717,557 - 85,840,949 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl885,717,578 - 85,840,921 (-)EnsemblGRCm38mm10GRCm38
MGSCv37888,241,456 - 88,364,848 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36888,608,645 - 88,730,877 (-)NCBIMGSCv36mm8
Celera890,013,580 - 90,138,207 (-)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.61NCBI
Itfg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81937,383,982 - 37,504,523 (+)NCBIGRCr8
mRatBN7.21921,210,697 - 21,331,285 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1921,210,733 - 21,331,279 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1922,893,548 - 23,013,694 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01928,088,070 - 28,208,221 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01931,050,875 - 31,171,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01922,281,906 - 22,403,548 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1922,281,906 - 22,403,542 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01933,289,326 - 33,410,847 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41922,561,637 - 22,682,885 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11922,547,513 - 22,687,705 (+)NCBI
Celera1921,075,489 - 21,195,835 (+)NCBICelera
Cytogenetic Map19p11NCBI
Itfg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554747,801,203 - 8,020,961 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554747,800,984 - 8,020,891 (+)NCBIChiLan1.0ChiLan1.0
ITFG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21856,611,915 - 56,914,293 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11662,515,848 - 62,819,104 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01627,416,955 - 27,720,197 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11646,305,573 - 46,611,710 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1646,305,573 - 46,613,463 (-)Ensemblpanpan1.1panPan2
ITFG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1267,475,847 - 67,767,674 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl267,476,650 - 67,766,475 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha264,051,187 - 64,342,814 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0268,033,832 - 68,325,598 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl268,034,718 - 68,325,595 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1264,847,097 - 65,138,117 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0265,870,369 - 66,161,938 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0267,009,404 - 67,153,010 (+)NCBIUU_Cfam_GSD_1.0
UU_Cfam_GSD_1.0266,759,872 - 66,934,582 (+)NCBIUU_Cfam_GSD_1.0
Itfg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934958,809,938 - 59,070,813 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936475518,237 - 779,214 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936475518,262 - 779,215 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITFG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl637,193,711 - 37,432,883 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1637,193,632 - 37,430,910 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2632,411,274 - 32,673,834 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITFG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1533,003,454 - 33,288,295 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl533,002,463 - 33,288,338 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604743,259,076 - 43,563,482 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itfg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624914720,601 - 1,013,739 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624914721,206 - 1,013,734 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ITFG1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|See cases [RCV000052404] Chr16:46466829..52314178 [GRCh38]
Chr16:46500741..52348090 [GRCh37]
Chr16:45058242..50905591 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 copy number loss See cases [RCV000053309] Chr16:46466829..51939304 [GRCh38]
Chr16:46500741..51973216 [GRCh37]
Chr16:45058242..50530717 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 copy number loss See cases [RCV000053310] Chr16:46466829..51673196 [GRCh38]
Chr16:46500741..51707107 [GRCh37]
Chr16:45058242..50264608 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 copy number loss See cases [RCV000053328] Chr16:46471520..52405956 [GRCh38]
Chr16:46505432..52439868 [GRCh37]
Chr16:45062933..50997369 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 copy number loss See cases [RCV000053329] Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2
pathogenic
NM_030790.4(ITFG1):c.1662-969C>A single nucleotide variant Lung cancer [RCV000099923] Chr16:47159959 [GRCh38]
Chr16:47193870 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.4(ITFG1):c.1331-2465A>G single nucleotide variant Lung cancer [RCV000099924] Chr16:47240473 [GRCh38]
Chr16:47274384 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.4(ITFG1):c.802+20292T>G single nucleotide variant Lung cancer [RCV000099925] Chr16:47345496 [GRCh38]
Chr16:47379407 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 copy number loss See cases [RCV000137306] Chr16:46466829..52422170 [GRCh38]
Chr16:46500741..52456082 [GRCh37]
Chr16:45058242..51013583 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 copy number gain See cases [RCV000137170] Chr16:46466829..52355793 [GRCh38]
Chr16:46500741..52389705 [GRCh37]
Chr16:45058242..50947206 [NCBI36]
Chr16:16q11.2-12.1
pathogenic
GRCh38/hg38 16q12.1(chr16:47193875-47612192)x1 copy number loss See cases [RCV000139179] Chr16:47193875..47612192 [GRCh38]
Chr16:47227786..47646103 [GRCh37]
Chr16:45785287..46203604 [NCBI36]
Chr16:16q12.1
uncertain significance
GRCh38/hg38 16q12.1(chr16:47224376-47628637)x1 copy number loss See cases [RCV000142259] Chr16:47224376..47628637 [GRCh38]
Chr16:47258287..47662548 [GRCh37]
Chr16:45815788..46220049 [NCBI36]
Chr16:16q12.1
likely benign
GRCh38/hg38 16q12.1(chr16:47320682-47525728)x1 copy number loss See cases [RCV000142586] Chr16:47320682..47525728 [GRCh38]
Chr16:47354593..47559639 [GRCh37]
Chr16:45912094..46117140 [NCBI36]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1 copy number loss Ductal breast carcinoma [RCV000207035] Chr16:46615804..47345238 [GRCh37]
Chr16:16q11.2-12.1
uncertain significance
GRCh37/hg19 16q12.1(chr16:47223033-47658719)x1 copy number loss See cases [RCV000511327] Chr16:47223033..47658719 [GRCh37]
Chr16:16q12.1
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1 copy number loss See cases [RCV000511950] Chr16:46737110..51838691 [GRCh37]
Chr16:16q11.2-12.1
pathogenic
NM_030790.5(ITFG1):c.1367A>T (p.Lys456Met) single nucleotide variant Inborn genetic diseases [RCV003295750] Chr16:47237972 [GRCh38]
Chr16:47271883 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q12.1(chr16:47178066-47194051)x4 copy number gain not provided [RCV000739139] Chr16:47178066..47194051 [GRCh37]
Chr16:16q12.1
benign
GRCh37/hg19 16q12.1(chr16:47116679-47424828)x1 copy number loss not provided [RCV000751667] Chr16:47116679..47424828 [GRCh37]
Chr16:16q12.1
benign
GRCh37/hg19 16q12.1(chr16:47177234-47194051)x3 copy number gain not provided [RCV000751670] Chr16:47177234..47194051 [GRCh37]
Chr16:16q12.1
benign
GRCh37/hg19 16q12.1(chr16:47177234-47224693)x1 copy number loss not provided [RCV000751671] Chr16:47177234..47224693 [GRCh37]
Chr16:16q12.1
benign
GRCh37/hg19 16q12.1(chr16:47177300-47194051)x4 copy number gain not provided [RCV000751673] Chr16:47177300..47194051 [GRCh37]
Chr16:16q12.1
benign
GRCh37/hg19 16q12.1(chr16:47258287-47662546)x1 copy number loss not provided [RCV000848813] Chr16:47258287..47662546 [GRCh37]
Chr16:16q12.1
pathogenic
GRCh37/hg19 16q12.1(chr16:47207534-47524705)x1 copy number loss not provided [RCV000847241] Chr16:47207534..47524705 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q12.1(chr16:47258287-47662548)x1 copy number loss not provided [RCV001006794] Chr16:47258287..47662548 [GRCh37]
Chr16:16q12.1
uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
GRCh37/hg19 16q11.2-12.1(chr16:46503968-47312075)x3 copy number gain not provided [RCV001259853] Chr16:46503968..47312075 [GRCh37]
Chr16:16q11.2-12.1
uncertain significance
GRCh37/hg19 16q12.1(chr16:47223034-47518273)x1 copy number loss not provided [RCV001833059] Chr16:47223034..47518273 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q12.1(chr16:47284586-47612680)x1 copy number loss not provided [RCV001829070] Chr16:47284586..47612680 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NC_000016.9:g.(?_46694384)_(48258199_?)dup duplication Glycogen storage disease IXb [RCV003110959] Chr16:46694384..48258199 [GRCh37]
Chr16:16q11.2-12.1
uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21
pathogenic
NM_030790.5(ITFG1):c.22C>T (p.Pro8Ser) single nucleotide variant Inborn genetic diseases [RCV003285897] Chr16:47461024 [GRCh38]
Chr16:47494935 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.193T>C (p.Phe65Leu) single nucleotide variant Inborn genetic diseases [RCV002901453] Chr16:47460853 [GRCh38]
Chr16:47494764 [GRCh37]
Chr16:16q12.1
uncertain significance
GRCh37/hg19 16q12.1(chr16:47046015-47249587)x3 copy number gain not provided [RCV002475855] Chr16:47046015..47249587 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.908T>C (p.Val303Ala) single nucleotide variant Inborn genetic diseases [RCV002864661] Chr16:47311402 [GRCh38]
Chr16:47345313 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1726G>A (p.Gly576Ser) single nucleotide variant Inborn genetic diseases [RCV002688846] Chr16:47158926 [GRCh38]
Chr16:47192837 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1028G>A (p.Gly343Asp) single nucleotide variant Inborn genetic diseases [RCV002879436] Chr16:47311282 [GRCh38]
Chr16:47345193 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1583T>C (p.Ile528Thr) single nucleotide variant Inborn genetic diseases [RCV002882519] Chr16:47161828 [GRCh38]
Chr16:47195739 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1649A>G (p.Asn550Ser) single nucleotide variant Inborn genetic diseases [RCV002849466] Chr16:47161762 [GRCh38]
Chr16:47195673 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.193T>G (p.Phe65Val) single nucleotide variant Inborn genetic diseases [RCV002848677] Chr16:47460853 [GRCh38]
Chr16:47494764 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.440T>A (p.Met147Lys) single nucleotide variant Inborn genetic diseases [RCV002997914] Chr16:47452778 [GRCh38]
Chr16:47486689 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.959T>C (p.Val320Ala) single nucleotide variant Inborn genetic diseases [RCV002694729] Chr16:47311351 [GRCh38]
Chr16:47345262 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.34G>C (p.Ala12Pro) single nucleotide variant Inborn genetic diseases [RCV003000665] Chr16:47461012 [GRCh38]
Chr16:47494923 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1132C>T (p.Arg378Cys) single nucleotide variant Inborn genetic diseases [RCV002892785] Chr16:47260634 [GRCh38]
Chr16:47294545 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.625T>C (p.Phe209Leu) single nucleotide variant Inborn genetic diseases [RCV002641223] Chr16:47428834 [GRCh38]
Chr16:47462745 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1109A>G (p.Asn370Ser) single nucleotide variant Inborn genetic diseases [RCV002939632] Chr16:47260657 [GRCh38]
Chr16:47294568 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1130C>T (p.Ala377Val) single nucleotide variant Inborn genetic diseases [RCV002748681] Chr16:47260636 [GRCh38]
Chr16:47294547 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.877G>C (p.Val293Leu) single nucleotide variant Inborn genetic diseases [RCV002677524] Chr16:47313749 [GRCh38]
Chr16:47347660 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1050A>G (p.Ile350Met) single nucleotide variant Inborn genetic diseases [RCV003190235] Chr16:47311260 [GRCh38]
Chr16:47345171 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.891G>A (p.Met297Ile) single nucleotide variant Inborn genetic diseases [RCV003215681] Chr16:47313735 [GRCh38]
Chr16:47347646 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.931G>A (p.Gly311Ser) single nucleotide variant Inborn genetic diseases [RCV003369451] Chr16:47311379 [GRCh38]
Chr16:47345290 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.8C>T (p.Ala3Val) single nucleotide variant Inborn genetic diseases [RCV003372460] Chr16:47461038 [GRCh38]
Chr16:47494949 [GRCh37]
Chr16:16q12.1
uncertain significance
NM_030790.5(ITFG1):c.1568C>A (p.Ser523Tyr) single nucleotide variant Inborn genetic diseases [RCV003355971] Chr16:47162550 [GRCh38]
Chr16:47196461 [GRCh37]
Chr16:16q12.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2120
Count of miRNA genes:1039
Interacting mature miRNAs:1270
Transcripts:ENST00000320640, ENST00000537184, ENST00000542691, ENST00000544001, ENST00000563350, ENST00000563730, ENST00000564825, ENST00000565262, ENST00000565940, ENST00000567957, ENST00000568047, ENST00000569551
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
D16S3044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,437,620 - 47,437,814UniSTSGRCh37
Build 361645,995,121 - 45,995,315RGDNCBI36
Celera1631,945,565 - 31,945,759RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,328,113 - 33,328,305UniSTS
Marshfield Genetic Map1658.46RGD
Marshfield Genetic Map1658.46UniSTS
Genethon Genetic Map1656.7UniSTS
TNG Radiation Hybrid Map1618650.0UniSTS
deCODE Assembly Map1657.88UniSTS
RH25769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,189,508 - 47,189,637UniSTSGRCh37
Build 361645,747,009 - 45,747,138RGDNCBI36
Celera1631,697,608 - 31,697,737RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,079,206 - 33,079,335UniSTS
RH65004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,189,403 - 47,189,530UniSTSGRCh37
Build 361645,746,904 - 45,747,031RGDNCBI36
Celera1631,697,503 - 31,697,630RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,079,101 - 33,079,228UniSTS
RH69896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,494,113 - 47,494,240UniSTSGRCh37
Build 361646,051,614 - 46,051,741RGDNCBI36
Celera1632,002,054 - 32,002,181RGD
Cytogenetic Map16q12-q13UniSTS
Cytogenetic Map16q12.1UniSTS
HuRef1633,384,675 - 33,384,802UniSTS
RH44367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,266,603 - 47,266,868UniSTSGRCh37
Build 361645,824,104 - 45,824,369RGDNCBI36
Celera1631,774,564 - 31,774,829RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,157,228 - 33,157,493UniSTS
RH94268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,483,928 - 47,484,047UniSTSGRCh37
Build 361646,041,429 - 46,041,548RGDNCBI36
Celera1631,991,868 - 31,991,987RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,374,490 - 33,374,609UniSTS
GeneMap99-GB4 RH Map16316.99UniSTS
RH66125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,481,135 - 47,481,214UniSTSGRCh37
Build 361646,038,636 - 46,038,715RGDNCBI36
Celera1631,989,075 - 31,989,154RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,371,697 - 33,371,776UniSTS
RH122795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,362,622 - 47,362,901UniSTSGRCh37
Build 361645,920,123 - 45,920,402RGDNCBI36
Celera1631,870,568 - 31,870,847RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,253,236 - 33,253,515UniSTS
TNG Radiation Hybrid Map1618682.0UniSTS
D16S2754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,428,821 - 47,429,117UniSTSGRCh37
Build 361645,986,322 - 45,986,618RGDNCBI36
Celera1631,936,766 - 31,937,062RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,319,433 - 33,319,729UniSTS
D16S2850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,244,643 - 47,244,746UniSTSGRCh37
Build 361645,802,144 - 45,802,247RGDNCBI36
Celera1631,752,603 - 31,752,706RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,135,267 - 33,135,370UniSTS
RH68894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,416,057 - 47,416,263UniSTSGRCh37
Build 361645,973,558 - 45,973,764RGDNCBI36
Celera1631,924,002 - 31,924,208RGD
Cytogenetic Map16q12.1UniSTS
HuRef1633,306,669 - 33,306,875UniSTS
GeneMap99-GB4 RH Map16313.72UniSTS
AB062962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371647,188,929 - 47,189,031UniSTSGRCh37
Build 361645,746,430 - 45,746,532RGDNCBI36
Celera1631,697,029 - 31,697,131RGD
HuRef1633,078,627 - 33,078,729UniSTS
RH45443  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q12.1UniSTS
HuRef1633,322,736 - 33,322,965UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2034 1852 1446 364 1009 234 3348 1150 2979 353 1329 1582 142 1130 1985 4
Low 404 1133 280 259 938 231 1008 1046 755 65 131 31 32 1 74 803 1 1
Below cutoff 5 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001305002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF503339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM680211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA285856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL948664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY177137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000320640   ⟹   ENSP00000319918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,154,391 - 47,461,063 (-)Ensembl
RefSeq Acc Id: ENST00000537184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,155,301 - 47,311,950 (-)Ensembl
RefSeq Acc Id: ENST00000542691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,155,557 - 47,396,220 (-)Ensembl
RefSeq Acc Id: ENST00000544001   ⟹   ENSP00000441062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,155,605 - 47,461,274 (-)Ensembl
RefSeq Acc Id: ENST00000563350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,425,784 - 47,459,169 (-)Ensembl
RefSeq Acc Id: ENST00000563730   ⟹   ENSP00000455630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,451,396 - 47,464,149 (-)Ensembl
RefSeq Acc Id: ENST00000564825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,260,660 - 47,263,014 (-)Ensembl
RefSeq Acc Id: ENST00000565262   ⟹   ENSP00000457665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,155,672 - 47,258,722 (-)Ensembl
RefSeq Acc Id: ENST00000565940   ⟹   ENSP00000459192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,448,098 - 47,459,130 (-)Ensembl
RefSeq Acc Id: ENST00000567957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,155,585 - 47,238,289 (-)Ensembl
RefSeq Acc Id: ENST00000568047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,154,387 - 47,312,275 (-)Ensembl
RefSeq Acc Id: ENST00000569551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1647,365,571 - 47,452,757 (-)Ensembl
RefSeq Acc Id: NM_001305002   ⟹   NP_001291931
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381647,154,391 - 47,461,246 (-)NCBI
CHM1_11648,595,277 - 48,902,215 (-)NCBI
T2T-CHM13v2.01652,951,220 - 53,258,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030790   ⟹   NP_110417
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381647,154,391 - 47,461,063 (-)NCBI
GRCh371647,188,302 - 47,495,018 (-)NCBI
Build 361645,746,798 - 46,052,519 (-)NCBI Archive
Celera1631,697,397 - 32,002,959 (-)RGD
HuRef1633,078,995 - 33,385,580 (-)ENTREZGENE
CHM1_11648,595,277 - 48,902,215 (-)NCBI
T2T-CHM13v2.01652,951,220 - 53,257,881 (-)NCBI
Sequence:
RefSeq Acc Id: NP_110417   ⟸   NM_030790
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BRE2 (UniProtKB/Swiss-Prot),   Q96SR4 (UniProtKB/Swiss-Prot),   Q9H2V9 (UniProtKB/Swiss-Prot),   Q8TB96 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291931   ⟸   NM_001305002
- Peptide Label: isoform 2
- UniProtKB: B4DXC2 (UniProtKB/TrEMBL),   F5GXC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000441062   ⟸   ENST00000544001
RefSeq Acc Id: ENSP00000319918   ⟸   ENST00000320640
RefSeq Acc Id: ENSP00000455630   ⟸   ENST00000563730
RefSeq Acc Id: ENSP00000457665   ⟸   ENST00000565262
RefSeq Acc Id: ENSP00000459192   ⟸   ENST00000565940

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TB96-F1-model_v2 AlphaFold Q8TB96 1-612 view protein structure

Promoters
RGD ID:6793366
Promoter ID:HG_KWN:23734
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_000293,   NM_001031835,   OTTHUMT00000256768
Position:
Human AssemblyChrPosition (strand)Source
Build 361646,052,531 - 46,053,031 (+)MPROMDB
RGD ID:7232147
Promoter ID:EPDNEW_H21819
Type:initiation region
Name:ITFG1_3
Description:integrin alpha FG-GAP repeat containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21820  EPDNEW_H21821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381647,459,175 - 47,459,235EPDNEW
RGD ID:7232149
Promoter ID:EPDNEW_H21820
Type:initiation region
Name:ITFG1_1
Description:integrin alpha FG-GAP repeat containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21819  EPDNEW_H21821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381647,461,056 - 47,461,116EPDNEW
RGD ID:7232151
Promoter ID:EPDNEW_H21821
Type:initiation region
Name:ITFG1_2
Description:integrin alpha FG-GAP repeat containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21819  EPDNEW_H21820  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381647,461,246 - 47,461,306EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30697 AgrOrtholog
COSMIC ITFG1 COSMIC
Ensembl Genes ENSG00000129636 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320640 ENTREZGENE
  ENST00000320640.11 UniProtKB/Swiss-Prot
  ENST00000544001 ENTREZGENE
  ENST00000544001.6 UniProtKB/TrEMBL
  ENST00000563730.1 UniProtKB/TrEMBL
  ENST00000565262.1 UniProtKB/TrEMBL
  ENST00000565940.6 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot
GTEx ENSG00000129636 GTEx
HGNC ID HGNC:30697 ENTREZGENE
Human Proteome Map ITFG1 Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tip UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81533 UniProtKB/Swiss-Prot
NCBI Gene 81533 ENTREZGENE
OMIM 611803 OMIM
PANTHER PTHR13412 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-CELL IMMUNOMODULATORY PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam VCBS UniProtKB/Swiss-Prot
PharmGKB PA143485506 PharmGKB
Superfamily-SCOP SSF69318 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DXC2 ENTREZGENE, UniProtKB/TrEMBL
  F5GXC5 ENTREZGENE, UniProtKB/TrEMBL
  H3BQ64_HUMAN UniProtKB/TrEMBL
  H3BUJ1_HUMAN UniProtKB/TrEMBL
  I3L1X7_HUMAN UniProtKB/TrEMBL
  Q8TB96 ENTREZGENE
  Q96SR4 ENTREZGENE
  Q9BRE2 ENTREZGENE
  Q9H2V9 ENTREZGENE
  TIP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96SR4 UniProtKB/Swiss-Prot
  Q9BRE2 UniProtKB/Swiss-Prot
  Q9H2V9 UniProtKB/Swiss-Prot