IGHG3 (immunoglobulin heavy constant gamma 3 (G3m marker)) - Rat Genome Database

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Gene: IGHG3 (immunoglobulin heavy constant gamma 3 (G3m marker)) Homo sapiens
Analyze
Symbol: IGHG3
Name: immunoglobulin heavy constant gamma 3 (G3m marker)
RGD ID: 1344522
HGNC Page HGNC:5527
Description: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome.
Type: gene (Ensembl: IG_C_gene)
RefSeq Status: VALIDATED
Previously known as: IgG3
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814105,765,914 - 105,771,405 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,764,503 - 105,771,405 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,232,251 - 106,237,742 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,303,296 - 105,308,787 (-)NCBINCBI36Build 36hg18NCBI36
Celera1486,162,566 - 86,168,057 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1486,364,823 - 86,370,301 (-)NCBIHuRef
CHM1_114106,107,639 - 106,108,359 (-)NCBICHM1_1
T2T-CHM13v2.014100,037,379 - 100,042,856 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:402363   PMID:823945   PMID:3081877   PMID:3141902   PMID:6774747   PMID:6808505   PMID:8395549   PMID:9126488   PMID:12477932   PMID:14702039   PMID:17933503   PMID:19542624  
PMID:20176268   PMID:21873635   PMID:21988832   PMID:22516433   PMID:22664934   PMID:23225573   PMID:23533145   PMID:23580065   PMID:23956138   PMID:24619312   PMID:25963833   PMID:26186194  
PMID:26232328   PMID:26496610   PMID:28514442   PMID:29945307   PMID:30104633   PMID:30116249   PMID:31180492   PMID:32623342   PMID:33194618   PMID:33573068   PMID:33813392   PMID:33961781  
PMID:34428256   PMID:34728620   PMID:35676659  


Genomics

Comparative Map Data
IGHG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814105,765,914 - 105,771,405 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,764,503 - 105,771,405 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,232,251 - 106,237,742 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,303,296 - 105,308,787 (-)NCBINCBI36Build 36hg18NCBI36
Celera1486,162,566 - 86,168,057 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1486,364,823 - 86,370,301 (-)NCBIHuRef
CHM1_114106,107,639 - 106,108,359 (-)NCBICHM1_1
T2T-CHM13v2.014100,037,379 - 100,042,856 (-)NCBIT2T-CHM13v2.0
Ighg3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912113,321,062 - 113,324,852 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12113,319,844 - 113,324,852 (-)EnsemblGRCm39 Ensembl
GRCm3812113,357,442 - 113,361,232 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12113,356,224 - 113,361,232 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712114,595,653 - 114,599,443 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612113,807,383 - 113,809,043 (-)NCBIMGSCv36mm8
Celera12114,545,281 - 114,771,577 (-)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1262.1NCBI

Variants

.
Variants in IGHG3
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1 copy number loss See cases [RCV000051204] Chr14:105141364..106855263 [GRCh38]
Chr14:105607701..107263478 [GRCh37]
Chr14:104678746..106334523 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|See cases [RCV000052102] Chr14:105141364..105987610 [GRCh38]
Chr14:105607701..106453697 [GRCh37]
Chr14:104678746..105524742 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1 copy number loss See cases [RCV000135387] Chr14:104953508..106873666 [GRCh38]
Chr14:105419845..107281875 [GRCh37]
Chr14:104490890..106352920 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 copy number loss See cases [RCV000135781] Chr14:104622881..106678844 [GRCh38]
Chr14:105017236..107134861 [GRCh37]
Chr14:104088281..106205906 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1 copy number loss See cases [RCV000135897] Chr14:105023396..106850750 [GRCh38]
Chr14:105489733..107258965 [GRCh37]
Chr14:104560778..106330010 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105573256-106855263)x3 copy number gain See cases [RCV000137104] Chr14:105573256..106855263 [GRCh38]
Chr14:106252705..107263478 [GRCh37]
Chr14:105080340..106334523 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1 copy number loss See cases [RCV000138844] Chr14:105105705..106879501 [GRCh38]
Chr14:105572042..107287708 [GRCh37]
Chr14:104643087..106358753 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6 copy number gain See cases [RCV000142058] Chr14:105224887..106877229 [GRCh38]
Chr14:105691224..107285437 [GRCh37]
Chr14:104762269..106356482 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1 copy number loss See cases [RCV000142111] Chr14:105138612..106877229 [GRCh38]
Chr14:105604949..107285437 [GRCh37]
Chr14:104675994..106356482 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1 copy number loss See cases [RCV000142956] Chr14:105453295..106879298 [GRCh38]
Chr14:106252705..107287505 [GRCh37]
Chr14:104990677..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic|uncertain significance
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
Single allele duplication Gestational diabetes mellitus uncontrolled [RCV000161750] Chr14:105951611..107287663 [GRCh37]
Chr14:14q32.33		 not provided
Single allele duplication Normal pregnancy [RCV000161751] Chr14:105998544..107287663 [GRCh37]
Chr14:14q32.33		 not provided
GRCh37/hg19 14q32.3(chr14:106252705-106538480)x1 copy number loss See cases [RCV000051222] Chr14:106252705..106538480 [GRCh37]
Chr14:105143707..105609525 [NCBI36]
Chr14:14q32.3		 benign
GRCh37/hg19 14q32.33(chr14:106124720-106949307)x3 copy number gain Premature ovarian failure [RCV000225198] Chr14:106124720..106949307 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105814886-107285437)x1 copy number loss See cases [RCV000511369] Chr14:105814886..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1 copy number loss See cases [RCV000511076] Chr14:104915608..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105587643-106560949)x3 copy number gain See cases [RCV000512193] Chr14:105587643..106560949 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:106020225-107285437)x1 copy number loss not provided [RCV000683620] Chr14:106020225..107285437 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105436222-107287663)x3 copy number gain not provided [RCV000751145] Chr14:105436222..107287663 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105871769-106327640)x3 copy number gain not provided [RCV000751148] Chr14:105871769..106327640 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1 copy number loss not provided [RCV000848291] Chr14:105067651..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1 copy number loss not provided [RCV001006659] Chr14:104764078..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1 copy number loss not provided [RCV001006660] Chr14:105303584..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3 copy number gain not provided [RCV003485055] Chr14:105122914..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3 copy number gain See cases [RCV004442767] Chr14:105516659..107284437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:369
Count of miRNA genes:339
Interacting mature miRNAs:364
Transcripts:ENST00000390551
Prediction methods:Miranda, Rnahybrid
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
406966865GWAS615841_Hserum IgG measurement QTL GWAS615841 (human)8e-16serum IgG measurementserum immunoglobulin G level (CMO:0002102)14105766248105766249Human
407142821GWAS791797_Hcarcinoembryonic antigen-related cell adhesion molecule 1 measurement QTL GWAS791797 (human)1e-215carcinoembryonic antigen-related cell adhesion molecule 1 measurement14105766248105766249Human
407142293GWAS791269_Htriglycerides in small LDL measurement QTL GWAS791269 (human)2e-21triglycerides in small LDL measurement 14105766769105766770Human
407075909GWAS724885_Hphospholipids:total lipids ratio QTL GWAS724885 (human)9e-10phospholipids:total lipids ratio14105768907105768908Human
407144477GWAS793453_HRING finger protein 165 measurement QTL GWAS793453 (human)3e-104RING finger protein 165 measurement14105769430105769431Human
407138266GWAS787242_Htriglycerides in medium LDL measurement QTL GWAS787242 (human)4e-16triglycerides in medium LDL measurement 14105766769105766770Human
407084733GWAS733709_Hlow density lipoprotein particle size measurement QTL GWAS733709 (human)3e-30low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)14105767411105767412Human
407142570GWAS791546_Hapoptosis-inducing factor 1, mitochondrial measurement QTL GWAS791546 (human)6e-53apoptosis-inducing factor 1, mitochondrial measurement14105770121105770122Human
407085804GWAS734780_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS734780 (human)6e-11triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)14105766769105766770Human

Markers in Region
PMC151015P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714106,207,831 - 106,208,447UniSTSGRCh37
GRCh3714106,134,604 - 106,135,217UniSTSGRCh37
Build 3614105,205,649 - 105,206,262RGDNCBI36
Celera1486,146,880 - 86,147,496RGD
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q32.33UniSTS
HuRef1486,340,136 - 86,340,752UniSTS
RH71306  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.33UniSTS
GeneMap99-GB4 RH Map14283.81UniSTS
RH44825  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.33UniSTS
GeneMap99-GB4 RH Map14279.78UniSTS
NCBI RH Map141118.3UniSTS
D14S1342  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.33UniSTS
GeneMap99-G3 RH Map144372.0UniSTS
A010A33  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.33UniSTS
GeneMap99-GB4 RH Map14279.78UniSTS
NCBI RH Map141118.3UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1200 2301 2691 2191 4278 1676 2111 2 592 1880 430 1959 6927 6296 6 3339 777 1614 1414 163

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_001019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK097307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M87789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000390551   ⟹   ENSP00000374993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,769,102 - 105,771,405 (-)Ensembl
Ensembl Acc Id: ENST00000641136   ⟹   ENSP00000492969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,764,503 - 105,771,405 (-)Ensembl
Ensembl Acc Id: ENSP00000374993   ⟸   ENST00000390551
Ensembl Acc Id: ENSP00000492969   ⟸   ENST00000641136
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01860-F1-model_v2 AlphaFold P01860 1-377 view protein structure

Promoters
RGD ID:6791696
Promoter ID:HG_KWN:20461
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000390550,   ENST00000390552,   ENST00000390553,   ENST00000390554,   ENST00000390555,   OTTHUMT00000326654,   OTTHUMT00000326655,   UC001YSH.1,   UC001YSI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614105,310,666 - 105,311,166 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5527 AgrOrtholog
COSMIC IGHG3 COSMIC
Ensembl Genes ENSG00000211897 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000282184 UniProtKB/TrEMBL
Ensembl Transcript ENST00000390551.6 UniProtKB/TrEMBL
  ENST00000632774.1 UniProtKB/TrEMBL
  ENST00000641136.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000211897 GTEx
  ENSG00000282184 GTEx
HGNC ID HGNC:5527 ENTREZGENE
Human Proteome Map IGHG3 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig/MHC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immune_Resp_Modulators UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene IGHG3 ENTREZGENE
OMIM 147120 OMIM
PANTHER IMMUNOGLOBULIN HEAVY CONSTANT GAMMA 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAPASIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29718 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_MHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Immunoglobulin UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A9H3ZR93_HUMAN UniProtKB/TrEMBL
  A0A9H4DHQ2_HUMAN UniProtKB/TrEMBL
  IGHG3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A075B6N8 UniProtKB/Swiss-Prot
  A0A286YES1 UniProtKB/Swiss-Prot
  A0A4W9A917 UniProtKB/Swiss-Prot
  A2NU35 UniProtKB/Swiss-Prot