IGHG4 (immunoglobulin heavy constant gamma 4 (G4m marker)) - Rat Genome Database

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Gene: IGHG4 (immunoglobulin heavy constant gamma 4 (G4m marker)) Homo sapiens
Analyze
Symbol: IGHG4
Name: immunoglobulin heavy constant gamma 4 (G4m marker)
RGD ID: 1346926
HGNC Page HGNC:5528
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
RGD Orthologs
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
GRCh3814105,624,476 - 105,626,065 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,620,506 - 105,626,066 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,090,813 - 106,092,402 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,161,752 - 105,163,447 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map14q32.33NCBI
CHM1_114106,087,113 - 106,088,702 (-)NCBICHM1_1
T2T-CHM13v2.01499,896,471 - 99,898,060 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. 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:4192699   PMID:6299662   PMID:6327276   PMID:6407005   PMID:6421489   PMID:6804948   PMID:11257305   PMID:12477932   PMID:20176268   PMID:21873635   PMID:22516433   PMID:22664934  
PMID:23533145   PMID:23580065   PMID:25963833   PMID:26186194   PMID:27173435   PMID:28514442   PMID:28902428   PMID:31180492   PMID:31405213   PMID:33060197   PMID:33961781   PMID:34428256  
PMID:35013218   PMID:36147463  


Genomics

Comparative Map Data
IGHG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814105,624,476 - 105,626,065 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,620,506 - 105,626,066 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,090,813 - 106,092,402 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,161,752 - 105,163,447 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map14q32.33NCBI
CHM1_114106,087,113 - 106,088,702 (-)NCBICHM1_1
T2T-CHM13v2.01499,896,471 - 99,898,060 (-)NCBIT2T-CHM13v2.0
IgG-2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
RGSC_v3.46138,346,448 - 138,452,787 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16138,352,639 - 139,081,445 (-)NCBI
Cytogenetic Map6q32NCBI


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
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
NCBI36/hg18 14q32.33(chr14:105143707-105280567)x1 copy number loss See cases [RCV000136963] Chr14:105143707..105280567 [NCBI36]
Chr14:14q32.33		 benign
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 14q32.2-32.33(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(chr14:105771428-106188230)x1 copy number loss not provided [RCV000751146] Chr14:105771428..106188230 [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(chr14:105943679-106190145)x1 copy number loss not provided [RCV000751150] Chr14:105943679..106190145 [GRCh37]
Chr14:14q32.33		 benign
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
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(chr14:105067651-107285437)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 14q32.33(chr14:105770143-106207205)x3 copy number gain not provided [RCV000848064] Chr14:105770143..106207205 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1 copy number loss not provided [RCV001006659] Chr14:104764078..107285437 [GRCh37]
Chr14:14q32.33		 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 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1 copy number loss not provided [RCV001006660] Chr14:105303584..107285437 [GRCh37]
Chr14:14q32.33		 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(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [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 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 14q32.32-32.33(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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:384
Count of miRNA genes:350
Interacting mature miRNAs:379
Transcripts:ENST00000390543
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.

Markers in Region
RH71306  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.33UniSTS
GeneMap99-GB4 RH Map14283.81UniSTS
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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 21 9 39 3 112 3 5 2 6 19 63 5 2
Medium 611 470 717 344 883 282 217 29 67 132 305 873 63 405 97
Low 1049 1183 676 217 722 130 1366 697 1175 158 888 452 87 475 868 1
Below cutoff 605 1126 242 28 116 17 2017 1194 2124 58 146 72 11 282 1425 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390543   ⟹   ENSP00000374985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,624,341 - 105,626,066 (-)Ensembl
RefSeq Acc Id: ENST00000641978   ⟹   ENSP00000493388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,620,506 - 105,626,066 (-)Ensembl
Protein Sequences
GenBank Protein CAC20457 (Get FASTA)   NCBI Sequence Viewer  
  CAE45900 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374985.2
  ENSP00000483393.2
  ENSP00000493388.1
GenBank Protein P01861 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: ENSP00000374985   ⟸   ENST00000390543
RefSeq Acc Id: ENSP00000493388   ⟸   ENST00000641978
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01861-F1-model_v2 AlphaFold P01861 1-327 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5528 AgrOrtholog
COSMIC IGHG4 COSMIC
Ensembl Genes ENSG00000211892 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000277016 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390543.3 UniProtKB/Swiss-Prot
  ENST00000618981.2 UniProtKB/Swiss-Prot
  ENST00000641978.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211892 GTEx
  ENSG00000277016 GTEx
HGNC ID HGNC:5528 ENTREZGENE
Human Proteome Map IGHG4 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig/MHC_CS UniProtKB/Swiss-Prot
  Ig_C1-set UniProtKB/Swiss-Prot
NCBI Gene IGHG4 ENTREZGENE
OMIM 147130 OMIM
PANTHER IMMUNOGLOBULIN HEAVY CONSTANT GAMMA 1-RELATED UniProtKB/Swiss-Prot
  TAPASIN UniProtKB/Swiss-Prot
Pfam C1-set UniProtKB/Swiss-Prot
PharmGKB PA29719 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
  IG_MHC UniProtKB/Swiss-Prot
SMART IGc1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt IGHG4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A286YFJ8 UniProtKB/Swiss-Prot