IGLC1 (immunoglobulin lambda constant 1) - Rat Genome Database

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Gene: IGLC1 (immunoglobulin lambda constant 1) Homo sapiens
Analyze
Symbol: IGLC1
Name: immunoglobulin lambda constant 1
RGD ID: 1349723
HGNC Page HGNC:5855
Description: Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome.
Type: gene (Ensembl: IG_C_gene)
RefSeq Status: VALIDATED
Previously known as: IGLC; immunoglobulin lambda constant 1 (Mcg marker)
RGD Orthologs
Mouse
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
GRCh382222,895,375 - 22,895,694 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,895,375 - 22,895,834 (+)EnsemblGRCh38hg38GRCh38
GRCh372223,237,555 - 23,237,874 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,567,557 - 21,567,874NCBINCBI36Build 36hg18NCBI36
Celera227,052,136 - 7,052,455 (+)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef226,205,404 - 6,205,723 (+)NCBIHuRef
CHM1_12223,249,845 - 23,250,164 (+)NCBICHM1_1
T2T-CHM13v2.02223,318,284 - 23,318,603 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
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
Additional References at PubMed
PMID:814163   PMID:2115572   PMID:2515285   PMID:3122211   PMID:4215080   PMID:4415202   PMID:4814727   PMID:4883841   PMID:4909564   PMID:5549568   PMID:6273747   PMID:6404900  
PMID:7737190   PMID:9074928   PMID:9530559   PMID:11955599   PMID:12077254   PMID:12477932   PMID:15174051   PMID:16189514   PMID:16502470   PMID:16713569   PMID:20176268   PMID:21516116  
PMID:21873635   PMID:22516433   PMID:22664934   PMID:23303672   PMID:23376485   PMID:23533145   PMID:23580065   PMID:24711643   PMID:24981860   PMID:25416956   PMID:36215168   PMID:37120454  


Genomics

Comparative Map Data
IGLC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382222,895,375 - 22,895,694 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,895,375 - 22,895,834 (+)EnsemblGRCh38hg38GRCh38
GRCh372223,237,555 - 23,237,874 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,567,557 - 21,567,874NCBINCBI36Build 36hg18NCBI36
Celera227,052,136 - 7,052,455 (+)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef226,205,404 - 6,205,723 (+)NCBIHuRef
CHM1_12223,249,845 - 23,250,164 (+)NCBICHM1_1
T2T-CHM13v2.02223,318,284 - 23,318,603 (+)NCBIT2T-CHM13v2.0
Iglc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,880,502 - 18,880,821 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,880,368 - 18,880,821 (-)EnsemblGRCm39 Ensembl
GRCm381619,061,752 - 19,062,071 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1619,061,618 - 19,062,071 (-)EnsemblGRCm38mm10GRCm38
MGSCv371619,061,845 - 19,062,164 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,975,315 - 18,975,634 (-)NCBIMGSCv36mm8
Celera1619,635,804 - 19,636,123 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.8NCBI
Iglc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81195,452,233 - 95,454,185 (+)NCBIGRCr8
mRatBN7.21181,947,966 - 81,949,822 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,947,934 - 81,949,822 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01186,094,822 - 86,096,399 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,094,567 - 86,096,397 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,196,933 - 89,198,358 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,198,234 - 84,199,868 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1180,730,236 - 80,731,679 (+)NCBICelera
Cytogenetic Map11q23NCBI

Variants

.
Variants in IGLC1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 22q11.22-11.23(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 22q11.21-11.23(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(chr22:20726772-23135971)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(chr22:21386914-23305976)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
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 22q11.1-13.33(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 22q11.21-11.23(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 22q11.21-12.3(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(chr22:21207181-24247140)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(chr22:22655333-23310325)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
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 copy number gain See cases [RCV000240234] Chr22:22988879..24276233 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-23652512)x3 copy number gain See cases [RCV000449266] Chr22:22953514..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1 copy number loss See cases [RCV000454226] Chr22:22989304..23666474 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 copy number loss See cases [RCV000447184] Chr22:22997802..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 copy number loss See cases [RCV000448461] Chr22:22962196..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 copy number gain See cases [RCV000510372] Chr22:21804562..23781918 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649562)x1 copy number loss See cases [RCV000511560] Chr22:22997802..23649562 [GRCh37]
Chr22:22q11.22-11.23		 likely benign
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 copy number loss See cases [RCV000511441] Chr22:21798907..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 copy number loss See cases [RCV000511686] Chr22:22997802..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997803-23654064)x3 copy number gain See cases [RCV000510917] Chr22:22997803..23654064 [GRCh37]
Chr22:22q11.22-11.23		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001178126.2(IGLL5):c.445G>A (p.Ala149Thr) single nucleotide variant not specified [RCV004292411] Chr22:22895494 [GRCh38]
Chr22:23237674 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.610G>A (p.Val204Met) single nucleotide variant not specified [RCV004308145] Chr22:22895659 [GRCh38]
Chr22:23237839 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1 copy number loss not provided [RCV000684481] Chr22:22997802..23650873 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-23654007)x3 copy number gain not provided [RCV000684482] Chr22:22953514..23654007 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
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
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22980351-23652956)x1 copy number loss not provided [RCV000741810] Chr22:22980351..23652956 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22(chr22:23009692-23246214)x3 copy number gain not provided [RCV000741814] Chr22:23009692..23246214 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23027209-23247879)x3 copy number gain not provided [RCV000741816] Chr22:23027209..23247879 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23056493-23242210)x0 copy number loss not provided [RCV000741817] Chr22:23056493..23242210 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23071228-23247879)x3 copy number gain not provided [RCV000741818] Chr22:23071228..23247879 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23100539-23244065)x0 copy number loss not provided [RCV000741819] Chr22:23100539..23244065 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23100539-23247777)x0 copy number loss not provided [RCV000741820] Chr22:23100539..23247777 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:23111199-23259859)x0 copy number loss not provided [RCV000741821] Chr22:23111199..23259859 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22(chr22:22255329-23321856) copy number gain not provided [RCV000767632] Chr22:22255329..23321856 [GRCh37]
Chr22:22q11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) copy number gain not provided [RCV000767631] Chr22:21800032..23237674 [GRCh37]
Chr22:22q11.21-11.22		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788072] Chr22:22997928..23654007 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652512)x3 copy number gain not provided [RCV000848051] Chr22:22962195..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 copy number loss not provided [RCV000849290] Chr22:21798906..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23004886-23757078)x3 copy number gain not provided [RCV000848841] Chr22:23004886..23757078 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138) copy number loss Imperforate anus [RCV000986107] Chr22:22971867..23643138 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 copy number loss not provided [RCV000847701] Chr22:22962196..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 copy number loss not provided [RCV000848074] Chr22:22962196..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 copy number loss not provided [RCV000848333] Chr22:22997802..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 copy number loss not provided [RCV000847333] Chr22:22997802..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 copy number loss not provided [RCV000848992] Chr22:21922619..23654064 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 copy number loss not provided [RCV000847719] Chr22:22962196..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997928-23649052)x1 copy number loss not provided [RCV000848450] Chr22:22997928..23649052 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997928-23652512)x3 copy number gain not provided [RCV000848654] Chr22:22997928..23652512 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649907)x3 copy number gain not provided [RCV000846934] Chr22:22997802..23649907 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652562)x3 copy number gain not provided [RCV000847384] Chr22:22962195..23652562 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 copy number loss not provided [RCV000846748] Chr22:22962196..23652512 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119) copy number loss Schwannomatosis 1 [RCV003236733] Chr22:22893189..24177119 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3 copy number gain not provided [RCV001258775] Chr22:22898364..23653963 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1 copy number loss not provided [RCV001259986] Chr22:21798906..23805099 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3 copy number gain Generalized-onset seizure [RCV001801186] Chr22:23166334..24237343 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22(chr22:22953515-23410918)x3 copy number gain not provided [RCV001827711] Chr22:22953515..23410918 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3 copy number gain not provided [RCV001827799] Chr22:22953514..23489966 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3 copy number gain not provided [RCV001829171] Chr22:22962196..23653963 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997929-23650871)x1 copy number loss not provided [RCV002472510] Chr22:22997929..23650871 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 copy number gain not provided [RCV002473547] Chr22:22997929..24995256 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 copy number gain not provided [RCV002474578] Chr22:22953515..24995256 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
NM_001178126.2(IGLL5):c.494A>C (p.Lys165Thr) single nucleotide variant not specified [RCV004117313] Chr22:22895543 [GRCh38]
Chr22:23237723 [GRCh37]
Chr22:22q11.22		 likely benign
GRCh37/hg19 22q11.22-11.23(chr22:22988816-23657709)x1 copy number loss not provided [RCV002512214] Chr22:22988816..23657709 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
NM_001178126.2(IGLL5):c.548C>T (p.Thr183Met) single nucleotide variant not specified [RCV004247242] Chr22:22895597 [GRCh38]
Chr22:23237777 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.508A>C (p.Ser170Arg) single nucleotide variant not specified [RCV004143022] Chr22:22895557 [GRCh38]
Chr22:23237737 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.524C>T (p.Ala175Val) single nucleotide variant not specified [RCV004176881] Chr22:22895573 [GRCh38]
Chr22:23237753 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22989224-23657709)x1 copy number loss not provided [RCV003327105] Chr22:22989224..23657709 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3 copy number gain not provided [RCV003485239] Chr22:21798907..23652586 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1 copy number loss not provided [RCV003483391] Chr22:21916217..24060551 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 copy number gain not provided [RCV003457365] Chr22:22989453..25019883 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3 copy number gain not specified [RCV003986183] Chr22:22962196..23653963 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
NC_000022.10:g.(?_21797384)_(23630313_?)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003885333] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3 copy number gain not provided [RCV004442791] Chr22:21804597..24629406 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
NM_001178126.2(IGLL5):c.344C>T (p.Pro115Leu) single nucleotide variant not specified [RCV004402646] Chr22:22895393 [GRCh38]
Chr22:23237573 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.587A>G (p.Gln196Arg) single nucleotide variant not specified [RCV004402649] Chr22:22895636 [GRCh38]
Chr22:23237816 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.637T>C (p.Cys213Arg) single nucleotide variant not specified [RCV004402651] Chr22:22895686 [GRCh38]
Chr22:23237866 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.427C>T (p.Pro143Ser) single nucleotide variant not specified [RCV004402647] Chr22:22895476 [GRCh38]
Chr22:23237656 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001178126.2(IGLL5):c.469G>A (p.Val157Ile) single nucleotide variant not specified [RCV004402648] Chr22:22895518 [GRCh38]
Chr22:23237698 [GRCh37]
Chr22:22q11.22		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:349
Count of miRNA genes:309
Interacting mature miRNAs:342
Transcripts:ENST00000390321
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
G54039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,248,758 - 23,248,874UniSTSGRCh37
GRCh372223,243,402 - 23,243,518UniSTSGRCh37
Build 362221,573,402 - 21,573,518RGDNCBI36
Celera227,063,340 - 7,063,456UniSTS
Celera227,057,984 - 7,058,100RGD
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q11.22UniSTS
HuRef226,211,251 - 6,211,367UniSTS
HuRef226,216,618 - 6,216,734UniSTS
GDB:452623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,235,588 - 23,236,032UniSTSGRCh37
Build 362221,565,588 - 21,566,032RGDNCBI36
Celera227,050,169 - 7,050,613RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef226,203,437 - 6,203,881UniSTS
RH71286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,248,694 - 23,248,877UniSTSGRCh37
GRCh372223,243,338 - 23,243,521UniSTSGRCh37
Build 362221,573,338 - 21,573,521RGDNCBI36
Celera227,063,276 - 7,063,459UniSTS
Celera227,057,920 - 7,058,103RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef226,216,554 - 6,216,737UniSTS
HuRef226,211,187 - 6,211,370UniSTS
GeneMap99-GB4 RH Map2246.36UniSTS
RH71381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,237,803 - 23,237,950UniSTSGRCh37
Build 362221,567,803 - 21,567,950RGDNCBI36
Celera227,052,384 - 7,052,531RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef226,205,652 - 6,205,799UniSTS
GeneMap99-GB4 RH Map2263.63UniSTS
STS-X51755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,236,002 - 23,236,248UniSTSGRCh37
Build 362221,566,002 - 21,566,248RGDNCBI36
Celera227,050,583 - 7,050,829RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef226,203,851 - 6,204,097UniSTS
GeneMap99-GB4 RH Map2248.89UniSTS
D22S1243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,243,450 - 23,243,587UniSTSGRCh37
GRCh372223,248,806 - 23,248,943UniSTSGRCh37
Build 362221,573,450 - 21,573,587RGDNCBI36
Celera227,058,032 - 7,058,169RGD
Celera227,063,388 - 7,063,525UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q11.22UniSTS
HuRef226,211,299 - 6,211,436UniSTS
HuRef226,216,666 - 6,216,803UniSTS
TNG Radiation Hybrid Map222865.0UniSTS
Stanford-G3 RH Map22270.0UniSTS
GeneMap99-G3 RH Map22270.0UniSTS
RH71287  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q14UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
GeneMap99-GB4 RH Map2246.65UniSTS
RH71387  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q14UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
GeneMap99-GB4 RH Map2245.82UniSTS
D22S1543  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
D22S1040  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q14UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
Whitehead-YAC Contig Map22 UniSTS


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 370 70 63 114 351 6 1 2 6 9 160 114 15 5
Medium 652 1410 683 223 814 185 1085 165 399 55 503 794 38 736 569
Low 1051 1194 648 50 18 41 2368 1560 1798 47 590 271 9 406 1717
Below cutoff 121 224 25 467 335 1103 2 8 6 39 390

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390321   ⟹   ENSP00000374855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2222,895,375 - 22,895,834 (+)Ensembl
Protein Sequences
GenBank Protein AAA59106 (Get FASTA)   NCBI Sequence Viewer  
  AAH12159 (Get FASTA)   NCBI Sequence Viewer  
  BAA20024 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374855.2
GenBank Protein P0CG04 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: ENSP00000374855   ⟸   ENST00000390321
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0CG04-F1-model_v2 AlphaFold P0CG04 1-106 view protein structure

Promoters
RGD ID:6800026
Promoter ID:HG_KWN:41885
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321822
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,566,739 - 21,567,239 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5855 AgrOrtholog
COSMIC IGLC1 COSMIC
Ensembl Genes ENSG00000211675 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000390321.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000211675 GTEx
HGNC ID HGNC:5855 ENTREZGENE
Human Proteome Map IGLC1 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
NCBI Gene IGLC1 ENTREZGENE
OMIM 147220 OMIM
PANTHER IG-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC CLASS II-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29742 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 SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5H1ZRQ4_HUMAN UniProtKB/TrEMBL
  IGLC1_HUMAN UniProtKB/Swiss-Prot
  P01842
  P0CG04 ENTREZGENE
UniProt Secondary A0A075B6K8 UniProtKB/Swiss-Prot
  A0M8Q4 UniProtKB/Swiss-Prot
  P01842 UniProtKB/Swiss-Prot
  P80423 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 IGLC1  immunoglobulin lambda constant 1    immunoglobulin lambda constant 1 (Mcg marker)  Symbol and/or name change 5135510 APPROVED