IGHJ4 (immunoglobulin heavy joining 4) - Rat Genome Database

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Gene: IGHJ4 (immunoglobulin heavy joining 4) Homo sapiens
Analyze
Symbol: IGHJ4
Name: immunoglobulin heavy joining 4
RGD ID: 1345182
HGNC Page HGNC:5538
Description:
Type: gene (Ensembl: IG_J_gene)
RefSeq Status: VALIDATED
Previously known as: JH4b
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
GRCh3814105,864,213 - 105,864,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,864,215 - 105,864,260 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,330,423 - 106,330,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,401,468 - 105,401,517 (-)NCBINCBI36Build 36hg18NCBI36
Celera1486,261,078 - 86,261,127 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1486,463,300 - 86,463,349 (-)NCBIHuRef
CHM1_114106,201,169 - 106,201,218 (-)NCBICHM1_1
T2T-CHM13v2.014100,135,769 - 100,135,818 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

References

References - curated
# Reference Title Reference Citation
1. 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:6101209   PMID:6795593  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 14q32.33(chr14:105817508-106855263)x1 copy number loss See cases [RCV000135642] Chr14:105817508..106855263 [GRCh38]
Chr14:106283841..107263478 [GRCh37]
Chr14:105354886..106334523 [NCBI36]
Chr14:14q32.33		 likely benign
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 14q32.33(chr14:105786368-106879501)x1 copy number loss See cases [RCV000139075] Chr14:105786368..106879501 [GRCh38]
Chr14:106252705..107287708 [GRCh37]
Chr14:105238511..106358753 [NCBI36]
Chr14:14q32.33		 benign
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
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(chr14:97938637-106855263)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 14q32.2-32.33(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(chr14:100808300-106855263)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 14q31.2-32.33(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 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 14q32.12-32.33(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 14q32.13-32.33(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
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
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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:345
Count of miRNA genes:322
Interacting mature miRNAs:339
Transcripts:ENST00000461719
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.


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 pharyngeal arch
High 285 52 37 77 335 4 2 2 3 89 77 7 4
Medium 671 1308 571 248 1270 174 763 107 266 63 410 860 74 677 351
Low 1039 1184 843 150 86 141 2492 1409 1802 109 606 371 9 472 1756 2
Below cutoff 6 63 4 1 1 29 76 124 2 5 2 26

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000461719   ⟹   ENSP00000419074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,864,215 - 105,864,260 (-)Ensembl
Protein Sequences
GenBank Protein AAB59414 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000419074.1
  ENSP00000487646.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000419074   ⟸   ENST00000461719


Additional Information

Database Acc Id Source(s)
COSMIC IGHJ4 COSMIC
Ensembl Genes ENSG00000240041 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000282065 UniProtKB/TrEMBL
Ensembl Transcript ENST00000461719.1 UniProtKB/TrEMBL
  ENST00000631521.1 UniProtKB/TrEMBL
GTEx ENSG00000240041 GTEx
  ENSG00000282065 GTEx
HGNC ID HGNC:5538 ENTREZGENE
Human Proteome Map IGHJ4 Human Proteome Map
InterPro Ig-like_dom_sf UniProtKB/TrEMBL
NCBI Gene IGHJ4 ENTREZGENE
PharmGKB PA29727 PharmGKB
Superfamily-SCOP SSF48726 UniProtKB/TrEMBL
UniProt A0A0C4DH66_HUMAN UniProtKB/TrEMBL
  A0A0J9YVS3_HUMAN UniProtKB/TrEMBL