IGLJ7 (immunoglobulin lambda joining 7) - Rat Genome Database

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Gene: IGLJ7 (immunoglobulin lambda joining 7) Homo sapiens
Analyze
Symbol: IGLJ7
Name: immunoglobulin lambda joining 7
RGD ID: 1354222
HGNC Page HGNC:5869
Description: ASSOCIATED WITH Schizophrenia; schizophrenia
Type: gene (Ensembl: IG_J_gene)
RefSeq Status: VALIDATED
Previously known as: J7
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382222,921,398 - 22,921,435 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,921,390 - 22,921,435 (+)EnsemblGRCh38hg38GRCh38
GRCh372223,263,570 - 23,263,607 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,593,570 - 21,593,607NCBINCBI36Build 36hg18NCBI36
Celera227,078,151 - 7,078,188 (+)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef226,231,344 - 6,231,381 (+)NCBIHuRef
CHM1_12223,275,868 - 23,275,905 (+)NCBICHM1_1
T2T-CHM13v2.02223,344,308 - 23,344,345 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:2115572   PMID:9074928  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3 copy number gain See cases [RCV000135338] Chr22:22669543..23300977 [GRCh38]
Chr22:23012013..23643164 [GRCh37]
Chr22:21342013..21973164 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3 copy number gain See cases [RCV000136533] Chr22:22669543..23301036 [GRCh38]
Chr22:23012013..23643223 [GRCh37]
Chr22:21342013..21973223 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1 copy number loss See cases [RCV000139467] Chr22:22669599..23312050 [GRCh38]
Chr22:23012069..23654237 [GRCh37]
Chr22:21342069..21984237 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1 copy number loss See cases [RCV000142309] Chr22:22655458..23308687 [GRCh38]
Chr22:22997928..23650874 [GRCh37]
Chr22:21327928..21980874 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-23306603)x1 copy number loss See cases [RCV000142985] Chr22:22660239..23306603 [GRCh38]
Chr22:23002709..23648790 [GRCh37]
Chr22:21332709..21978790 [NCBI36]
Chr22:22q11.22-11.23		 likely benign
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1 copy number loss See cases [RCV000142654] Chr22:22669543..23301036 [GRCh38]
Chr22:23012013..23643223 [GRCh37]
Chr22:21342013..21973223 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3 copy number gain See cases [RCV000143347] Chr22:22660239..23312035 [GRCh38]
Chr22:23002709..23654222 [GRCh37]
Chr22:21332709..21984222 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1 copy number loss See cases [RCV000143461] Chr22:22655333..23310325 [GRCh38]
Chr22:22997803..23652512 [GRCh37]
Chr22:21327803..21982512 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1 copy number loss See cases [RCV000053109] Chr22:22651209..23299955 [GRCh38]
Chr22:22993679..23642142 [GRCh37]
Chr22:21323679..21972142 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1 copy number loss See cases [RCV000053110] Chr22:22660238..23305976 [GRCh38]
Chr22:23002708..23648163 [GRCh37]
Chr22:21332708..21978163 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1 copy number loss See cases [RCV000053112] Chr22:22686122..23315617 [GRCh38]
Chr22:23028586..23657804 [GRCh37]
Chr22:21358586..21987804 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1 copy number loss See cases [RCV000053113] Chr22:22703701..23285204 [GRCh38]
Chr22:23046186..23627391 [GRCh37]
Chr22:21376186..21957391 [NCBI36]
Chr22:22q11.22-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23		 likely pathogenic
NC_000022.11:g.(?_22638171)_(23320336_?)del deletion Schizophrenia [RCV000754257] Chr22:22638171..23320336 [GRCh38]
Chr22:22q11.22-11.23		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:208
Count of miRNA genes:195
Interacting mature miRNAs:199
Transcripts:ENST00000390330
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
High 1 1
Medium 45 6 9 18 122 1 3 20 18 1
Low 497 264 131 134 539 29 82 17 36 17 83 314 105 67 43
Below cutoff 2 9 9 6 10 5 1 1 1 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390330   ⟹   ENSP00000419233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2222,921,390 - 22,921,435 (+)Ensembl
Protein Sequences
GenBank Protein BAA20900 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000419233.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000419233   ⟸   ENST00000390330

Promoters
RGD ID:6800030
Promoter ID:HG_KWN:41894
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321636
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,593,726 - 21,594,226 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
COSMIC IGLJ7 COSMIC
Ensembl Genes ENSG00000211684 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000390330.2 UniProtKB/TrEMBL
GTEx ENSG00000211684 GTEx
HGNC ID HGNC:5869 ENTREZGENE
Human Proteome Map IGLJ7 Human Proteome Map
NCBI Gene IGLJ7 ENTREZGENE
PharmGKB PA29755 PharmGKB
UniProt A0A0A0MT92_HUMAN UniProtKB/TrEMBL