ECSIT (ECSIT signaling integrator) - Rat Genome Database

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Gene: ECSIT (ECSIT signaling integrator) Homo sapiens
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Symbol: ECSIT
Name: ECSIT signaling integrator
RGD ID: 1602709
HGNC Page HGNC:29548
Description: Enables molecular adaptor activity. Involved in regulation of oxidoreductase activity; regulation of protein complex stability; and toll-like receptor 4 signaling pathway. Located in cytosol; mitochondrion; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ECSIT homolog; ECSIT signalling integrator; evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial; likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved; signaling intermediate in Toll pathway evolutionarily conserved ortholog; signaling intermediate in Toll pathway, evolutionarily conserved; SITPEC
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
GRCh381911,505,929 - 11,529,134 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,505,929 - 11,529,172 (-)EnsemblGRCh38hg38GRCh38
GRCh371911,616,744 - 11,639,949 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,477,744 - 11,500,930 (-)NCBINCBI36Build 36hg18NCBI36
Celera1911,511,487 - 11,534,729 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,191,504 - 11,214,699 (-)NCBIHuRef
CHM1_11911,616,796 - 11,640,052 (-)NCBICHM1_1
T2T-CHM13v2.01911,633,432 - 11,656,636 (-)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
cytoplasm  (IC,IDA,IEA)
cytosol  (IDA)
mitochondrial inner membrane  (NAS,TAS)
mitochondrion  (HTP,IBA,IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
transcription regulator complex  (ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10465784   PMID:12477932   PMID:14633973   PMID:15761153   PMID:16169070   PMID:17344420   PMID:18029348   PMID:20816094   PMID:20877624   PMID:21150319   PMID:21163940   PMID:21873635  
PMID:22588174   PMID:22939629   PMID:22982022   PMID:24344204   PMID:25228397   PMID:25241761   PMID:25355951   PMID:25371197   PMID:25449573   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:27173435   PMID:28330616   PMID:28380382   PMID:28514442   PMID:28986522   PMID:29229926   PMID:29291352   PMID:29507755   PMID:29509794   PMID:29929436   PMID:30572598   PMID:30833792  
PMID:31056398   PMID:31073040   PMID:31091453   PMID:31281713   PMID:31617661   PMID:31620128   PMID:31871319   PMID:32296183   PMID:32320651   PMID:32457219   PMID:32628020   PMID:32707033  
PMID:32877691   PMID:32994395   PMID:33001583   PMID:33054138   PMID:33060197   PMID:33753518   PMID:33957083   PMID:33961781   PMID:34032637   PMID:34079125   PMID:34800366   PMID:35256949  
PMID:36215168   PMID:37409430   PMID:38326554  


Genomics

Comparative Map Data
ECSIT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381911,505,929 - 11,529,134 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,505,929 - 11,529,172 (-)EnsemblGRCh38hg38GRCh38
GRCh371911,616,744 - 11,639,949 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,477,744 - 11,500,930 (-)NCBINCBI36Build 36hg18NCBI36
Celera1911,511,487 - 11,534,729 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,191,504 - 11,214,699 (-)NCBIHuRef
CHM1_11911,616,796 - 11,640,052 (-)NCBICHM1_1
T2T-CHM13v2.01911,633,432 - 11,656,636 (-)NCBIT2T-CHM13v2.0
Ecsit
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,982,731 - 21,997,648 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,983,542 - 21,996,734 (-)EnsemblGRCm39 Ensembl
GRCm38922,071,435 - 22,086,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl922,072,246 - 22,085,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv37921,876,690 - 21,889,826 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36921,822,648 - 21,835,784 (-)NCBIMGSCv36mm8
Celera919,341,179 - 19,354,315 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map98.23NCBI
Ecsit
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8828,881,594 - 28,894,443 (-)NCBIGRCr8
mRatBN7.2820,605,583 - 20,618,453 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl820,605,583 - 20,618,390 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx824,634,492 - 24,647,259 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0822,931,630 - 22,944,397 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0820,835,127 - 20,847,897 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0823,085,598 - 23,099,064 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl823,085,590 - 23,099,042 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0823,140,382 - 23,153,833 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4821,180,813 - 21,188,450 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1821,180,812 - 21,188,448 (-)NCBI
Celera821,995,925 - 22,008,609 (-)NCBICelera
Cytogenetic Map8q13NCBI
Ecsit
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,375,602 - 2,382,035 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,375,992 - 2,385,962 (-)NCBIChiLan1.0ChiLan1.0
ECSIT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22016,418,589 - 16,442,123 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11915,417,615 - 15,441,163 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01911,052,057 - 11,075,308 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11911,763,701 - 11,786,743 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1911,763,701 - 11,786,743 (-)Ensemblpanpan1.1panPan2
ECSIT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,848,848 - 49,867,075 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,848,912 - 49,867,066 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,719,951 - 49,738,199 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02050,367,125 - 50,385,358 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2050,367,198 - 50,385,334 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,577,450 - 49,595,682 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,003,598 - 50,021,824 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02050,246,771 - 50,265,009 (+)NCBIUU_Cfam_GSD_1.0
Ecsit
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,791,168 - 208,804,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,549,581 - 1,563,574 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,550,192 - 1,563,534 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ECSIT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,154,843 - 70,170,744 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,154,861 - 70,170,762 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2270,507,984 - 70,523,830 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ECSIT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1610,430,333 - 10,440,047 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl610,430,446 - 10,439,830 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660749,441,423 - 9,456,186 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ecsit
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248283,264,149 - 3,269,030 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248283,264,054 - 3,276,270 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ECSIT
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3 copy number gain See cases [RCV000054109] Chr19:11138895..11549951 [GRCh38]
Chr19:11249571..11660766 [GRCh37]
Chr19:11110571..11521766 [NCBI36]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NM_016581.5(ECSIT):c.251G>A (p.Arg84Gln) single nucleotide variant not specified [RCV004288448] Chr19:11514067 [GRCh38]
Chr19:11624882 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3 copy number gain not provided [RCV001007032] Chr19:11445773..12160664 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1 copy number loss See cases [RCV001263055] Chr19:10957601..11672041 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.277G>T (p.Val93Leu) single nucleotide variant not specified [RCV004245864] Chr19:11514041 [GRCh38]
Chr19:11624856 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.352C>T (p.Arg118Trp) single nucleotide variant not specified [RCV004100648] Chr19:11513966 [GRCh38]
Chr19:11624781 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.445C>T (p.Arg149Cys) single nucleotide variant not specified [RCV004167763] Chr19:11513873 [GRCh38]
Chr19:11624688 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.236C>T (p.Ala79Val) single nucleotide variant not specified [RCV004180066] Chr19:11514082 [GRCh38]
Chr19:11624897 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.185G>A (p.Arg62Gln) single nucleotide variant not specified [RCV004095358] Chr19:11514133 [GRCh38]
Chr19:11624948 [GRCh37]
Chr19:19p13.2		 likely benign
NM_016581.5(ECSIT):c.485T>C (p.Ile162Thr) single nucleotide variant not specified [RCV004103307] Chr19:11513833 [GRCh38]
Chr19:11624648 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.650G>A (p.Arg217Gln) single nucleotide variant not specified [RCV004224548] Chr19:11513144 [GRCh38]
Chr19:11623959 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.758C>T (p.Ser253Leu) single nucleotide variant not specified [RCV004274061] Chr19:11508029 [GRCh38]
Chr19:11618844 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.301G>A (p.Val101Met) single nucleotide variant not specified [RCV004297575] Chr19:11514017 [GRCh38]
Chr19:11624832 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.738+6C>T single nucleotide variant not provided [RCV003423344] Chr19:11513050 [GRCh38]
Chr19:11623865 [GRCh37]
Chr19:19p13.2		 likely benign
NM_016581.5(ECSIT):c.104G>A (p.Arg35His) single nucleotide variant not specified [RCV004346153] Chr19:11514214 [GRCh38]
Chr19:11625029 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.1275A>C (p.Arg425=) single nucleotide variant not provided [RCV003423343] Chr19:11506205 [GRCh38]
Chr19:11617020 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_016581.5(ECSIT):c.134C>T (p.Ala45Val) single nucleotide variant not specified [RCV004384450] Chr19:11514184 [GRCh38]
Chr19:11624999 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.610T>G (p.Phe204Val) single nucleotide variant not specified [RCV004384453] Chr19:11513184 [GRCh38]
Chr19:11623999 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.993G>A (p.Gln331=) single nucleotide variant not specified [RCV004384456] Chr19:11507515 [GRCh38]
Chr19:11618330 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.106C>T (p.Arg36Trp) single nucleotide variant not specified [RCV004384449] Chr19:11514212 [GRCh38]
Chr19:11625027 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.578C>T (p.Pro193Leu) single nucleotide variant not specified [RCV004384452] Chr19:11513216 [GRCh38]
Chr19:11624031 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.946G>A (p.Glu316Lys) single nucleotide variant not specified [RCV004384455] Chr19:11507562 [GRCh38]
Chr19:11618377 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.747G>C (p.Leu249Phe) single nucleotide variant not specified [RCV004384454] Chr19:11508040 [GRCh38]
Chr19:11618855 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.151G>A (p.Glu51Lys) single nucleotide variant not specified [RCV004384451] Chr19:11514167 [GRCh38]
Chr19:11624982 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.424C>G (p.Arg142Gly) single nucleotide variant not specified [RCV004617569] Chr19:11513894 [GRCh38]
Chr19:11624709 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.64G>A (p.Gly22Arg) single nucleotide variant not specified [RCV004617567] Chr19:11519107 [GRCh38]
Chr19:11629922 [GRCh37]
Chr19:19p13.2		 likely benign
NM_016581.5(ECSIT):c.362G>A (p.Gly121Asp) single nucleotide variant not specified [RCV004617573] Chr19:11513956 [GRCh38]
Chr19:11624771 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.370C>T (p.Arg124Trp) single nucleotide variant not specified [RCV004617565] Chr19:11513948 [GRCh38]
Chr19:11624763 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.310C>T (p.Arg104Trp) single nucleotide variant not specified [RCV004617568] Chr19:11514008 [GRCh38]
Chr19:11624823 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.40T>G (p.Cys14Gly) single nucleotide variant not specified [RCV004617571] Chr19:11519131 [GRCh38]
Chr19:11629946 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.689G>A (p.Gly230Asp) single nucleotide variant not specified [RCV004617572] Chr19:11513105 [GRCh38]
Chr19:11623920 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_016581.5(ECSIT):c.553C>G (p.Gln185Glu) single nucleotide variant not specified [RCV004617570] Chr19:11513241 [GRCh38]
Chr19:11624056 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4410
Count of miRNA genes:918
Interacting mature miRNAs:1130
Transcripts:ENST00000252440, ENST00000270517, ENST00000417981, ENST00000585318, ENST00000585898, ENST00000586149, ENST00000588998, ENST00000590480, ENST00000591104, ENST00000591352, ENST00000592312, ENST00000592571, ENST00000592665, ENST00000593231
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
406958492GWAS607468_Hprotein measurement QTL GWAS607468 (human)4e-44protein measurement191151016411510165Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH98319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,616,765 - 11,616,913UniSTSGRCh37
Build 361911,477,765 - 11,477,913RGDNCBI36
Celera1911,511,508 - 11,511,656RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,191,538 - 11,191,686UniSTS
GeneMap99-GB4 RH Map1973.2UniSTS
D19S665E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,616,761 - 11,616,877UniSTSGRCh37
Build 361911,477,761 - 11,477,877RGDNCBI36
Celera1911,511,504 - 11,511,620RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,191,534 - 11,191,650UniSTS
STS-AA027810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,621,800 - 11,621,963UniSTSGRCh37
Build 361911,482,800 - 11,482,963RGDNCBI36
Celera1911,516,543 - 11,516,706RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,196,360 - 11,196,523UniSTS
GeneMap99-GB4 RH Map1968.84UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF243044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI336311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI743680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE791936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU186092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R46579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252440   ⟹   ENSP00000252440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,929 - 11,529,137 (-)Ensembl
Ensembl Acc Id: ENST00000270517   ⟹   ENSP00000270517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,929 - 11,529,134 (-)Ensembl
Ensembl Acc Id: ENST00000417981   ⟹   ENSP00000412712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,506,002 - 11,529,172 (-)Ensembl
Ensembl Acc Id: ENST00000585318   ⟹   ENSP00000462957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,945 - 11,529,132 (-)Ensembl
Ensembl Acc Id: ENST00000585898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,506,075 - 11,507,709 (-)Ensembl
Ensembl Acc Id: ENST00000586149   ⟹   ENSP00000466415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,519,097 - 11,529,099 (-)Ensembl
Ensembl Acc Id: ENST00000588998   ⟹   ENSP00000468783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,929 - 11,529,096 (-)Ensembl
Ensembl Acc Id: ENST00000590480   ⟹   ENSP00000467436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,513,111 - 11,529,130 (-)Ensembl
Ensembl Acc Id: ENST00000591104   ⟹   ENSP00000466559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,506,184 - 11,528,865 (-)Ensembl
Ensembl Acc Id: ENST00000591352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,507,772 - 11,513,858 (-)Ensembl
Ensembl Acc Id: ENST00000592312   ⟹   ENSP00000466762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,506,301 - 11,529,124 (-)Ensembl
Ensembl Acc Id: ENST00000592571   ⟹   ENSP00000465162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,958 - 11,513,168 (-)Ensembl
Ensembl Acc Id: ENST00000592665   ⟹   ENSP00000465181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,513,139 - 11,528,827 (-)Ensembl
Ensembl Acc Id: ENST00000593231   ⟹   ENSP00000464783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,507,700 - 11,513,970 (-)Ensembl
Ensembl Acc Id: ENST00000686541   ⟹   ENSP00000510386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,945 - 11,529,122 (-)Ensembl
Ensembl Acc Id: ENST00000688351   ⟹   ENSP00000508502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,945 - 11,529,087 (-)Ensembl
Ensembl Acc Id: ENST00000690346   ⟹   ENSP00000510792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,945 - 11,529,154 (-)Ensembl
Ensembl Acc Id: ENST00000691430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,945 - 11,519,948 (-)Ensembl
Ensembl Acc Id: ENST00000691750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,510,950 - 11,529,147 (-)Ensembl
Ensembl Acc Id: ENST00000693263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,505,949 - 11,514,769 (-)Ensembl
RefSeq Acc Id: NM_001142464   ⟹   NP_001135936
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,505,929 - 11,529,134 (-)NCBI
GRCh371911,616,731 - 11,639,987 (-)NCBI
Celera1911,511,487 - 11,534,729 (-)RGD
HuRef1911,191,504 - 11,214,699 (-)NCBI
CHM1_11911,616,796 - 11,640,052 (-)NCBI
T2T-CHM13v2.01911,633,432 - 11,656,636 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142465   ⟹   NP_001135937
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,505,929 - 11,529,134 (-)NCBI
GRCh371911,616,731 - 11,639,987 (-)NCBI
Celera1911,511,487 - 11,534,729 (-)RGD
HuRef1911,191,504 - 11,214,699 (-)NCBI
CHM1_11911,616,796 - 11,640,052 (-)NCBI
T2T-CHM13v2.01911,633,432 - 11,656,636 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243204   ⟹   NP_001230133
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,505,929 - 11,528,865 (-)NCBI
GRCh371911,616,731 - 11,639,987 (-)NCBI
HuRef1911,191,504 - 11,214,699 (-)NCBI
CHM1_11911,616,796 - 11,639,745 (-)NCBI
T2T-CHM13v2.01911,633,432 - 11,656,367 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016581   ⟹   NP_057665
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,505,929 - 11,529,134 (-)NCBI
GRCh371911,616,731 - 11,639,987 (-)NCBI
Build 361911,477,744 - 11,500,930 (-)NCBI Archive
Celera1911,511,487 - 11,534,729 (-)RGD
HuRef1911,191,504 - 11,214,699 (-)NCBI
CHM1_11911,616,796 - 11,640,052 (-)NCBI
T2T-CHM13v2.01911,633,432 - 11,656,636 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001135937   ⟸   NM_001142465
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9BQ95 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135936   ⟸   NM_001142464
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BQ95 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057665   ⟸   NM_016581
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96HQ7 (UniProtKB/Swiss-Prot),   K7EMM0 (UniProtKB/Swiss-Prot),   E9PAN9 (UniProtKB/Swiss-Prot),   Q9NYI1 (UniProtKB/Swiss-Prot),   Q9BQ95 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230133   ⟸   NM_001243204
- Peptide Label: isoform 4 precursor
- UniProtKB: Q9BQ95 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000252440   ⟸   ENST00000252440
Ensembl Acc Id: ENSP00000462957   ⟸   ENST00000585318
Ensembl Acc Id: ENSP00000466415   ⟸   ENST00000586149
Ensembl Acc Id: ENSP00000270517   ⟸   ENST00000270517
Ensembl Acc Id: ENSP00000412712   ⟸   ENST00000417981
Ensembl Acc Id: ENSP00000468783   ⟸   ENST00000588998
Ensembl Acc Id: ENSP00000467436   ⟸   ENST00000590480
Ensembl Acc Id: ENSP00000466559   ⟸   ENST00000591104
Ensembl Acc Id: ENSP00000465181   ⟸   ENST00000592665
Ensembl Acc Id: ENSP00000465162   ⟸   ENST00000592571
Ensembl Acc Id: ENSP00000466762   ⟸   ENST00000592312
Ensembl Acc Id: ENSP00000464783   ⟸   ENST00000593231
Ensembl Acc Id: ENSP00000508502   ⟸   ENST00000688351
Ensembl Acc Id: ENSP00000510792   ⟸   ENST00000690346
Ensembl Acc Id: ENSP00000510386   ⟸   ENST00000686541
Protein Domains
ECSIT C-terminal   ECSIT N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQ95-F1-model_v2 AlphaFold Q9BQ95 1-431 view protein structure

Promoters
RGD ID:6795367
Promoter ID:HG_KWN:28929
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142465,   UC002MSB.1,   UC010DYC.1,   UC010DYD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,500,649 - 11,501,149 (-)MPROMDB
RGD ID:7238617
Promoter ID:EPDNEW_H25055
Type:initiation region
Name:ECSIT_1
Description:ECSIT signalling integrator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,529,134 - 11,529,194EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29548 AgrOrtholog
COSMIC ECSIT COSMIC
Ensembl Genes ENSG00000130159 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252440 ENTREZGENE
  ENST00000252440.11 UniProtKB/Swiss-Prot
  ENST00000270517 ENTREZGENE
  ENST00000270517.12 UniProtKB/Swiss-Prot
  ENST00000417981 ENTREZGENE
  ENST00000417981.6 UniProtKB/Swiss-Prot
  ENST00000585318.6 UniProtKB/TrEMBL
  ENST00000586149.1 UniProtKB/TrEMBL
  ENST00000588998.5 UniProtKB/TrEMBL
  ENST00000590480.1 UniProtKB/TrEMBL
  ENST00000591104 ENTREZGENE
  ENST00000591104.5 UniProtKB/Swiss-Prot
  ENST00000592312.5 UniProtKB/TrEMBL
  ENST00000592571.1 UniProtKB/TrEMBL
  ENST00000592665.1 UniProtKB/TrEMBL
  ENST00000593231.1 UniProtKB/TrEMBL
  ENST00000686541.1 UniProtKB/TrEMBL
  ENST00000688351.1 UniProtKB/Swiss-Prot
  ENST00000690346.1 UniProtKB/Swiss-Prot
GTEx ENSG00000130159 GTEx
HGNC ID HGNC:29548 ENTREZGENE
Human Proteome Map ECSIT Human Proteome Map
InterPro ECIST_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECSIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECSIT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51295 UniProtKB/Swiss-Prot
NCBI Gene 51295 ENTREZGENE
OMIM 608388 OMIM
PANTHER EVOLUTIONARILY CONSERVED SIGNALING INTERMEDIATE IN TOLL PATHWAY, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ECSIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECSIT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA147358104 PharmGKB
SMART ECSIT_Cterm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KR62_HUMAN UniProtKB/TrEMBL
  E9PAN9 ENTREZGENE
  ECSIT_HUMAN UniProtKB/Swiss-Prot
  J3KTF5_HUMAN UniProtKB/TrEMBL
  K7EIK2_HUMAN UniProtKB/TrEMBL
  K7EJG5_HUMAN UniProtKB/TrEMBL
  K7EJI1_HUMAN UniProtKB/TrEMBL
  K7EM98_HUMAN UniProtKB/TrEMBL
  K7EMM0 ENTREZGENE
  K7EN32_HUMAN UniProtKB/TrEMBL
  K7EPL5_HUMAN UniProtKB/TrEMBL
  K7ESM8_HUMAN UniProtKB/TrEMBL
  Q96HQ7 ENTREZGENE
  Q9BQ95 ENTREZGENE
  Q9NYI1 ENTREZGENE
UniProt Secondary E9PAN9 UniProtKB/Swiss-Prot
  K7EMM0 UniProtKB/Swiss-Prot
  Q96HQ7 UniProtKB/Swiss-Prot
  Q9NYI1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-12 ECSIT  ECSIT signaling integrator  ECSIT  ECSIT signalling integrator  Symbol and/or name change 5135510 APPROVED
2013-06-04 ECSIT  ECSIT signalling integrator    ECSIT homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED