IL4I1 (interleukin 4 induced 1) - Rat Genome Database

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Gene: IL4I1 (interleukin 4 induced 1) Homo sapiens
Analyze
Symbol: IL4I1
Name: interleukin 4 induced 1
RGD ID: 1312498
HGNC Page HGNC:19094
Description: Enables L-amino-acid oxidase activity. Involved in aromatic amino acid family catabolic process; negative regulation of T cell mediated immune response to tumor cell; and regulation of T cell activation. Located in several cellular components, including acrosomal vesicle; immunological synapse; and sperm midpiece.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Fig-1 protein; FIG1; hFIG1; hIL4I1; IL4-induced protein 1; interleukin four induced 1; L-amino-acid oxidase; LAAO; LAO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh381949,889,654 - 49,929,504 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,889,654 - 49,929,539 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,392,911 - 50,432,761 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,084,723 - 55,124,574 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,084,722 - 55,124,574NCBI
Celera1947,262,414 - 47,302,277 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,769,248 - 46,809,051 (-)NCBIHuRef
CHM1_11950,394,747 - 50,434,624 (-)NCBICHM1_1
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12031486   PMID:12446450   PMID:12477932   PMID:12975309   PMID:15340161   PMID:15489334   PMID:16029492   PMID:17356132   PMID:18029348   PMID:19436310   PMID:20683900   PMID:20878154  
PMID:21873635   PMID:23355881   PMID:24307243   PMID:25446972   PMID:25767141   PMID:25778793   PMID:26673964   PMID:26760575   PMID:28891065   PMID:28951444   PMID:29206151   PMID:30021884  
PMID:30048651   PMID:31379854   PMID:31391242   PMID:32513696   PMID:32814053   PMID:32818467   PMID:32866000   PMID:33692337   PMID:34026337   PMID:34134578   PMID:34717685   PMID:35952516  
PMID:36056935   PMID:36131918   PMID:36834576   PMID:36913096   PMID:37196768   PMID:38250074  


Genomics

Comparative Map Data
IL4I1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,889,654 - 49,929,504 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,889,654 - 49,929,539 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,392,911 - 50,432,761 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,084,723 - 55,124,574 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,084,722 - 55,124,574NCBI
Celera1947,262,414 - 47,302,277 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,769,248 - 46,809,051 (-)NCBIHuRef
CHM1_11950,394,747 - 50,434,624 (-)NCBICHM1_1
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBIT2T-CHM13v2.0
Il4i1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,485,712 - 44,490,233 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,465,811 - 44,490,233 (+)EnsemblGRCm39 Ensembl
GRCm38744,836,288 - 44,840,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,816,387 - 44,840,809 (+)EnsemblGRCm38mm10GRCm38
MGSCv37752,091,658 - 52,096,179 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,704,331 - 44,708,851 (+)NCBIMGSCv36mm8
Celera740,286,481 - 40,291,002 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.93NCBI
Il4i1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,435,540 - 104,461,049 (+)NCBIGRCr8
mRatBN7.2195,299,457 - 95,324,564 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,295,601 - 95,324,562 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01100,811,727 - 100,836,901 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,830,064 - 100,836,677 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,876,161 - 101,901,569 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,308,752 - 95,313,418 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera189,576,933 - 89,586,418 (+)NCBICelera
Cytogenetic Map1q22NCBI
Il4i1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,034,917 - 1,047,034 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,012,634 - 1,047,051 (+)NCBIChiLan1.0ChiLan1.0
IL4I1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22056,004,316 - 56,044,128 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,925,198 - 57,965,639 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,902,656 - 46,942,213 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,819,075 - 55,858,389 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,819,080 - 55,858,389 (-)Ensemblpanpan1.1panPan2
IL4I1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,636,282 - 106,673,438 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,657,477 - 106,673,422 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,219,730 - 106,256,886 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,157,695 - 107,194,884 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,157,643 - 107,194,884 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,829,854 - 106,866,989 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,472,010 - 106,509,177 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,312,300 - 107,349,450 (+)NCBIUU_Cfam_GSD_1.0
Il4i1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,056,422 - 22,064,145 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,675,805 - 3,686,262 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,674,612 - 3,715,036 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL4I1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,906,406 - 54,916,081 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,906,401 - 54,945,840 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,635,545 - 50,645,336 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL4I1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,046,357 - 43,061,295 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl643,046,379 - 43,057,851 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607323,021,650 - 23,036,612 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il4i1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,431,903 - 4,444,651 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248324,404,818 - 4,444,551 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL4I1
177 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787922]|NUP62-related disorder [RCV003975031]|not provided [RCV001514104]|not specified [RCV000117866] Chr19:49908960 [GRCh38]
Chr19:50412217 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_001193646.1(ATF5):c.440C>T (p.Ser147Phe) single nucleotide variant Malignant melanoma [RCV000063600] Chr19:49932683 [GRCh38]
Chr19:50435940 [GRCh37]
Chr19:55127752 [NCBI36]
Chr19:19q13.33		 not provided
NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro) single nucleotide variant Infantile bilateral striatal necrosis [RCV000005018] Chr19:49908636 [GRCh38]
Chr19:50411893 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001193646.1(ATF5):c.807C>T (p.Ile269=) single nucleotide variant Malignant melanoma [RCV000063601] Chr19:49933050 [GRCh38]
Chr19:50436307 [GRCh37]
Chr19:55128119 [NCBI36]
Chr19:19q13.33		 not provided
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787920]|not provided [RCV001519351]|not specified [RCV000117863] Chr19:49908485 [GRCh38]
Chr19:50411742 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.549G>A (p.Thr183=) single nucleotide variant NUP62-related disorder [RCV003915156]|not provided [RCV001521717]|not specified [RCV000117864] Chr19:49909259 [GRCh38]
Chr19:50412516 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.648C>T (p.Ser216=) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787921]|not provided [RCV001519352]|not specified [RCV000117865] Chr19:49909160 [GRCh38]
Chr19:50412417 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.700A>G (p.Thr234Ala) single nucleotide variant Infantile bilateral striatal necrosis [RCV001333016]|not provided [RCV001871845] Chr19:49909108 [GRCh38]
Chr19:50412365 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.413C>G (p.Thr138Ser) single nucleotide variant not provided [RCV003730445]|not specified [RCV004255948] Chr19:49909395 [GRCh38]
Chr19:50412652 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.192C>T (p.Thr64=) single nucleotide variant NUP62-related disorder [RCV003937703]|not provided [RCV000955042]|not specified [RCV000194217] Chr19:49909616 [GRCh38]
Chr19:50412873 [GRCh37]
Chr19:19q13.33		 benign|likely benign|uncertain significance
NM_016553.5(NUP62):c.337G>A (p.Gly113Ser) single nucleotide variant not provided [RCV001854924]|not specified [RCV000239227] Chr19:49909471 [GRCh38]
Chr19:50412728 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q13.33(chr19:50391979-50665993)x3 copy number gain See cases [RCV000446903] Chr19:50391979..50665993 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.560C>T (p.Thr187Met) single nucleotide variant not provided [RCV000428843] Chr19:49909248 [GRCh38]
Chr19:50412505 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_152899.2(IL4I1):c.79G>C (p.Glu27Gln) single nucleotide variant not specified [RCV004328694] Chr19:49895988 [GRCh38]
Chr19:50399245 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_016553.5(NUP62):c.1444A>T (p.Met482Leu) single nucleotide variant not specified [RCV004312173] Chr19:49908364 [GRCh38]
Chr19:50411621 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_016553.5(NUP62):c.582G>A (p.Thr194=) single nucleotide variant NUP62-related disorder [RCV003912877]|not provided [RCV000901825] Chr19:49909226 [GRCh38]
Chr19:50412483 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.1209G>A (p.Leu403=) single nucleotide variant not provided [RCV000915448] Chr19:49908599 [GRCh38]
Chr19:50411856 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1338C>T (p.Arg446=) single nucleotide variant NUP62-related disorder [RCV003922973]|not provided [RCV000901316] Chr19:49908470 [GRCh38]
Chr19:50411727 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.1483C>T (p.Leu495=) single nucleotide variant not provided [RCV000904821] Chr19:49908325 [GRCh38]
Chr19:50411582 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.835G>A (p.Ala279Thr) single nucleotide variant not provided [RCV000903463] Chr19:49908973 [GRCh38]
Chr19:50412230 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.848GCA[5] (p.Ser286_Thr287insSer) microsatellite not provided [RCV000879188] Chr19:49908948..49908949 [GRCh38]
Chr19:50412205..50412206 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.1482G>C (p.Leu494=) single nucleotide variant not provided [RCV000894493] Chr19:49908326 [GRCh38]
Chr19:50411583 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.494C>T (p.Thr165Met) single nucleotide variant NUP62-related disorder [RCV003950504]|not provided [RCV000897986] Chr19:49909314 [GRCh38]
Chr19:50412571 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.548C>T (p.Thr183Met) single nucleotide variant Infantile bilateral striatal necrosis [RCV000984939]|not provided [RCV002549633] Chr19:49909260 [GRCh38]
Chr19:50412517 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1518C>T (p.Cys506=) single nucleotide variant not provided [RCV000893169] Chr19:49908290 [GRCh38]
Chr19:50411547 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.102C>T (p.Phe34=) single nucleotide variant not provided [RCV000914091] Chr19:49909706 [GRCh38]
Chr19:50412963 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.796G>A (p.Gly266Ser) single nucleotide variant not provided [RCV002559221]|not specified [RCV001193313] Chr19:49909012 [GRCh38]
Chr19:50412269 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.933C>T (p.Thr311=) single nucleotide variant not provided [RCV003121702] Chr19:49908875 [GRCh38]
Chr19:50412132 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.59C>T (p.Thr20Ile) single nucleotide variant not specified [RCV004306429] Chr19:49909749 [GRCh38]
Chr19:50413006 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1048C>T (p.His350Tyr) single nucleotide variant not specified [RCV004322885] Chr19:49908760 [GRCh38]
Chr19:50412017 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.795C>T (p.Ser265=) single nucleotide variant not provided [RCV000927193] Chr19:49909013 [GRCh38]
Chr19:50412270 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.663C>G (p.Leu221=) single nucleotide variant not provided [RCV000885752] Chr19:49909145 [GRCh38]
Chr19:50412402 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.171C>T (p.Thr57=) single nucleotide variant not provided [RCV000915449] Chr19:49909637 [GRCh38]
Chr19:50412894 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.990C>T (p.Tyr330=) single nucleotide variant not provided [RCV000907432] Chr19:49908818 [GRCh38]
Chr19:50412075 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.894G>A (p.Ala298=) single nucleotide variant not provided [RCV000909640] Chr19:49908914 [GRCh38]
Chr19:50412171 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_016553.5(NUP62):c.811A>T (p.Thr271Ser) single nucleotide variant not specified [RCV001193314] Chr19:49908997 [GRCh38]
Chr19:50412254 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1383C>T (p.Ser461=) single nucleotide variant not provided [RCV000891305] Chr19:49908425 [GRCh38]
Chr19:50411682 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.900C>T (p.Ala300=) single nucleotide variant not provided [RCV000934477] Chr19:49908908 [GRCh38]
Chr19:50412165 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.277G>A (p.Gly93Ser) single nucleotide variant not provided [RCV000891069] Chr19:49909531 [GRCh38]
Chr19:50412788 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_016553.5(NUP62):c.175C>G (p.Leu59Val) single nucleotide variant not provided [RCV001317849] Chr19:49909633 [GRCh38]
Chr19:50412890 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1089C>T (p.Arg363=) single nucleotide variant not provided [RCV003112579] Chr19:49908719 [GRCh38]
Chr19:50411976 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.581C>T (p.Thr194Met) single nucleotide variant not provided [RCV001874414] Chr19:49909227 [GRCh38]
Chr19:50412484 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1045C>T (p.Arg349Trp) single nucleotide variant not provided [RCV002030185] Chr19:49908763 [GRCh38]
Chr19:50412020 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.595A>G (p.Thr199Ala) single nucleotide variant not provided [RCV002001469] Chr19:49909213 [GRCh38]
Chr19:50412470 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.822_830del (p.Ala275_Ala277del) deletion not provided [RCV002014254] Chr19:49908978..49908986 [GRCh38]
Chr19:50412235..50412243 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_016553.5(NUP62):c.455C>G (p.Ala152Gly) single nucleotide variant not provided [RCV002023793]|not specified [RCV004046851] Chr19:49909353 [GRCh38]
Chr19:50412610 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.385G>A (p.Val129Ile) single nucleotide variant not provided [RCV002028429] Chr19:49909423 [GRCh38]
Chr19:50412680 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.823GCCACC[2] (p.275AT[2]) microsatellite not provided [RCV002033200] Chr19:49908968..49908973 [GRCh38]
Chr19:50412225..50412230 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1279G>A (p.Asp427Asn) single nucleotide variant not provided [RCV002048441]|not specified [RCV004046826] Chr19:49908529 [GRCh38]
Chr19:50411786 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.124T>C (p.Phe42Leu) single nucleotide variant not provided [RCV002022352] Chr19:49909684 [GRCh38]
Chr19:50412941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.841A>G (p.Thr281Ala) single nucleotide variant NUP62-related disorder [RCV003948880]|not provided [RCV002036902] Chr19:49908967 [GRCh38]
Chr19:50412224 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
GRCh37/hg19 19q13.33(chr19:50355646-50552140) copy number gain not specified [RCV002052690] Chr19:50355646..50552140 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.626C>T (p.Thr209Ile) single nucleotide variant not provided [RCV002044757] Chr19:49909182 [GRCh38]
Chr19:50412439 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.622C>G (p.Pro208Ala) single nucleotide variant not provided [RCV001913205]|not specified [RCV004042525] Chr19:49909186 [GRCh38]
Chr19:50412443 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.249G>A (p.Ser83=) single nucleotide variant not provided [RCV001979049] Chr19:49909559 [GRCh38]
Chr19:50412816 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_016553.5(NUP62):c.305C>T (p.Thr102Ile) single nucleotide variant not provided [RCV001953381] Chr19:49909503 [GRCh38]
Chr19:50412760 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.77C>T (p.Thr26Ile) single nucleotide variant not provided [RCV001949172] Chr19:49909731 [GRCh38]
Chr19:50412988 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.935C>T (p.Ala312Val) single nucleotide variant not provided [RCV001897164] Chr19:49908873 [GRCh38]
Chr19:50412130 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.395G>A (p.Ser132Asn) single nucleotide variant not provided [RCV001897679] Chr19:49909413 [GRCh38]
Chr19:50412670 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.425T>C (p.Phe142Ser) single nucleotide variant not provided [RCV001958475]|not specified [RCV004043764] Chr19:49909383 [GRCh38]
Chr19:50412640 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_50411496)_(50413064_?)dup duplication not provided [RCV004579787] Chr19:50411496..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1088G>A (p.Arg363His) single nucleotide variant not provided [RCV001986034] Chr19:49908720 [GRCh38]
Chr19:50411977 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.373A>T (p.Ile125Leu) single nucleotide variant not provided [RCV001881042] Chr19:49909435 [GRCh38]
Chr19:50412692 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.665T>C (p.Phe222Ser) single nucleotide variant not provided [RCV001981835]|not specified [RCV004042018] Chr19:49909143 [GRCh38]
Chr19:50412400 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.322A>G (p.Met108Val) single nucleotide variant not provided [RCV001928615] Chr19:49909486 [GRCh38]
Chr19:50412743 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV001974619]|not specified [RCV004042937] Chr19:49908817 [GRCh38]
Chr19:50412074 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.823GCCACC[4] (p.Thr280_Thr281insAlaThr) microsatellite not provided [RCV001957652] Chr19:49908967..49908968 [GRCh38]
Chr19:50412224..50412225 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1436A>G (p.Asn479Ser) single nucleotide variant not provided [RCV001878647] Chr19:49908372 [GRCh38]
Chr19:50411629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1098C>G (p.Ile366Met) single nucleotide variant not provided [RCV001881230] Chr19:49908710 [GRCh38]
Chr19:50411967 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1366G>A (p.Glu456Lys) single nucleotide variant not provided [RCV001881517]|not specified [RCV004041397] Chr19:49908442 [GRCh38]
Chr19:50411699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.661C>T (p.Leu221Phe) single nucleotide variant not provided [RCV001903856] Chr19:49909147 [GRCh38]
Chr19:50412404 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1357G>A (p.Asp453Asn) single nucleotide variant not provided [RCV001883214] Chr19:49908451 [GRCh38]
Chr19:50411708 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.842C>G (p.Thr281Ser) single nucleotide variant not provided [RCV001885754]|not specified [RCV004041062] Chr19:49908966 [GRCh38]
Chr19:50412223 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_016553.5(NUP62):c.836CCA[2] (p.Thr281_Thr282del) microsatellite not provided [RCV001908944] Chr19:49908961..49908966 [GRCh38]
Chr19:50412218..50412223 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1525C>T (p.Arg509Trp) single nucleotide variant not provided [RCV001972101] Chr19:49908283 [GRCh38]
Chr19:50411540 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.564G>A (p.Leu188=) single nucleotide variant not provided [RCV002107202] Chr19:49909244 [GRCh38]
Chr19:50412501 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.378G>A (p.Ser126=) single nucleotide variant not provided [RCV002112532] Chr19:49909430 [GRCh38]
Chr19:50412687 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1134G>A (p.Glu378=) single nucleotide variant not provided [RCV002075409] Chr19:49908674 [GRCh38]
Chr19:50411931 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.864C>T (p.Thr288=) single nucleotide variant not provided [RCV002220460] Chr19:49908944 [GRCh38]
Chr19:50412201 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.756G>C (p.Gly252=) single nucleotide variant NUP62-related disorder [RCV003973336]|not provided [RCV002201894] Chr19:49909052 [GRCh38]
Chr19:50412309 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.201G>A (p.Pro67=) single nucleotide variant not provided [RCV002162841] Chr19:49909607 [GRCh38]
Chr19:50412864 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.927C>T (p.Ala309=) single nucleotide variant not provided [RCV002091077] Chr19:49908881 [GRCh38]
Chr19:50412138 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1395C>T (p.Ala465=) single nucleotide variant not provided [RCV002216207] Chr19:49908413 [GRCh38]
Chr19:50411670 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.828C>G (p.Thr276=) single nucleotide variant not provided [RCV002111509] Chr19:49908980 [GRCh38]
Chr19:50412237 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.663C>T (p.Leu221=) single nucleotide variant NUP62-related disorder [RCV003978655]|not provided [RCV002112693] Chr19:49909145 [GRCh38]
Chr19:50412402 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.828C>T (p.Thr276=) single nucleotide variant not provided [RCV002136858] Chr19:49908980 [GRCh38]
Chr19:50412237 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.190A>C (p.Thr64Pro) single nucleotide variant not provided [RCV002175325] Chr19:49909618 [GRCh38]
Chr19:50412875 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.415G>A (p.Gly139Ser) single nucleotide variant not provided [RCV002190313] Chr19:49909393 [GRCh38]
Chr19:50412650 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.504C>T (p.Pro168=) single nucleotide variant not provided [RCV002071840] Chr19:49909304 [GRCh38]
Chr19:50412561 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.336C>T (p.Ser112=) single nucleotide variant not provided [RCV002127203] Chr19:49909472 [GRCh38]
Chr19:50412729 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.276C>T (p.Ile92=) single nucleotide variant not provided [RCV002175321] Chr19:49909532 [GRCh38]
Chr19:50412789 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.123G>T (p.Gly41=) single nucleotide variant NUP62-related disorder [RCV003913626]|not provided [RCV002081141] Chr19:49909685 [GRCh38]
Chr19:50412942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.642C>A (p.Ile214=) single nucleotide variant not provided [RCV002097352] Chr19:49909166 [GRCh38]
Chr19:50412423 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_50411496)_(50766697_?)dup duplication not provided [RCV003122710] Chr19:50411496..50766697 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1132G>A (p.Glu378Lys) single nucleotide variant not provided [RCV003121346] Chr19:49908676 [GRCh38]
Chr19:50411933 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.184C>A (p.Leu62Ile) single nucleotide variant not specified [RCV004310289] Chr19:49909624 [GRCh38]
Chr19:50412881 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.766A>G (p.Arg256Gly) single nucleotide variant not specified [RCV004145927] Chr19:49890978 [GRCh38]
Chr19:50394235 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.965C>T (p.Ala322Val) single nucleotide variant not provided [RCV002800359]|not specified [RCV004064702] Chr19:49908843 [GRCh38]
Chr19:50412100 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_016553.5(NUP62):c.1547G>C (p.Ser516Thr) single nucleotide variant not provided [RCV002971543] Chr19:49908261 [GRCh38]
Chr19:50411518 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1404dup (p.Asp469Ter) duplication not provided [RCV002862989] Chr19:49908403..49908404 [GRCh38]
Chr19:50411660..50411661 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1489G>A (p.Ala497Thr) single nucleotide variant not specified [RCV004151644] Chr19:49889885 [GRCh38]
Chr19:50393142 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1388C>T (p.Ala463Val) single nucleotide variant not provided [RCV002975662] Chr19:49908420 [GRCh38]
Chr19:50411677 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.955G>A (p.Ala319Thr) single nucleotide variant not specified [RCV004106361] Chr19:49908853 [GRCh38]
Chr19:50412110 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1393G>A (p.Glu465Lys) single nucleotide variant not specified [RCV004151717] Chr19:49889981 [GRCh38]
Chr19:50393238 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1186G>A (p.Ala396Thr) single nucleotide variant not specified [RCV004137080] Chr19:49890188 [GRCh38]
Chr19:50393445 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.220T>C (p.Phe74Leu) single nucleotide variant not provided [RCV002972264] Chr19:49909588 [GRCh38]
Chr19:50412845 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.838A>G (p.Thr280Ala) single nucleotide variant not specified [RCV004108468] Chr19:49908970 [GRCh38]
Chr19:50412227 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.814T>C (p.Ser272Pro) single nucleotide variant not provided [RCV002614172] Chr19:49908994 [GRCh38]
Chr19:50412251 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.538G>C (p.Glu180Gln) single nucleotide variant not specified [RCV004078171] Chr19:49894297 [GRCh38]
Chr19:50397554 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1085C>T (p.Pro362Leu) single nucleotide variant not specified [RCV004146755] Chr19:49890289 [GRCh38]
Chr19:50393546 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.247T>C (p.Ser83Pro) single nucleotide variant not provided [RCV002618357] Chr19:49909561 [GRCh38]
Chr19:50412818 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1108G>A (p.Glu370Lys) single nucleotide variant not specified [RCV004140043] Chr19:49890266 [GRCh38]
Chr19:50393523 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.802_804del (p.Ser268del) deletion not provided [RCV002637555] Chr19:49909004..49909006 [GRCh38]
Chr19:50412261..50412263 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.238G>A (p.Asp80Asn) single nucleotide variant not specified [RCV004163801] Chr19:49895829 [GRCh38]
Chr19:50399086 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.455T>G (p.Val152Gly) single nucleotide variant not specified [RCV004093055] Chr19:49894380 [GRCh38]
Chr19:50397637 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1445T>A (p.Met482Lys) single nucleotide variant not specified [RCV004139369] Chr19:49908363 [GRCh38]
Chr19:50411620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.188C>T (p.Ala63Val) single nucleotide variant not provided [RCV003778013]|not specified [RCV004190594] Chr19:49909620 [GRCh38]
Chr19:50412877 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1236G>T (p.Glu412Asp) single nucleotide variant not specified [RCV004190665] Chr19:49908572 [GRCh38]
Chr19:50411829 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.993G>A (p.Ala331=) single nucleotide variant not provided [RCV002659014] Chr19:49908815 [GRCh38]
Chr19:50412072 [GRCh37]
Chr19:19q13.33		 likely benign
NM_152899.2(IL4I1):c.1256C>T (p.Ala419Val) single nucleotide variant not specified [RCV004179657] Chr19:49890118 [GRCh38]
Chr19:50393375 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.454G>A (p.Ala152Thr) single nucleotide variant not specified [RCV004118756] Chr19:49909354 [GRCh38]
Chr19:50412611 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1665A>C (p.Leu555Phe) single nucleotide variant not specified [RCV004199772] Chr19:49889709 [GRCh38]
Chr19:50392966 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.820G>A (p.Ala274Thr) single nucleotide variant not provided [RCV002890777]|not specified [RCV004066032] Chr19:49908988 [GRCh38]
Chr19:50412245 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_152899.2(IL4I1):c.1612T>G (p.Ser538Ala) single nucleotide variant not specified [RCV004211832] Chr19:49889762 [GRCh38]
Chr19:50393019 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.68C>T (p.Thr23Met) single nucleotide variant not provided [RCV002780191] Chr19:49909740 [GRCh38]
Chr19:50412997 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV002948743] Chr19:49908638 [GRCh38]
Chr19:50411895 [GRCh37]
Chr19:19q13.33		 likely benign
NM_152899.2(IL4I1):c.637G>A (p.Glu213Lys) single nucleotide variant not specified [RCV004080718] Chr19:49891107 [GRCh38]
Chr19:50394364 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.381C>G (p.Ser127Arg) single nucleotide variant not provided [RCV002912689] Chr19:49909427 [GRCh38]
Chr19:50412684 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1046G>A (p.Arg349Gln) single nucleotide variant not specified [RCV004100673] Chr19:49908762 [GRCh38]
Chr19:50412019 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV003052834] Chr19:49908856 [GRCh38]
Chr19:50412113 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.731C>A (p.Thr244Asn) single nucleotide variant not provided [RCV003019055] Chr19:49909077 [GRCh38]
Chr19:50412334 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1645C>T (p.Pro549Ser) single nucleotide variant not specified [RCV004076121] Chr19:49889729 [GRCh38]
Chr19:50392986 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.851CCA[3] (p.Ser283_Ser284insThrThrThr) microsatellite not provided [RCV002645820] Chr19:49908957..49908958 [GRCh38]
Chr19:50412214..50412215 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.819C>T (p.Thr273=) single nucleotide variant not provided [RCV002626910] Chr19:49908989 [GRCh38]
Chr19:50412246 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.893C>T (p.Ala298Val) single nucleotide variant not provided [RCV002957374]|not specified [RCV004067203] Chr19:49908915 [GRCh38]
Chr19:50412172 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.192_206del (p.Pro67_Thr71del) deletion not provided [RCV003005159] Chr19:49909602..49909616 [GRCh38]
Chr19:50412859..50412873 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.517C>G (p.Gln173Glu) single nucleotide variant not specified [RCV004121171] Chr19:49894318 [GRCh38]
Chr19:50397575 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.901G>A (p.Gly301Arg) single nucleotide variant not provided [RCV002594852] Chr19:49908907 [GRCh38]
Chr19:50412164 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.838A>C (p.Thr280Pro) single nucleotide variant not provided [RCV002914530]|not specified [RCV004066280] Chr19:49908970 [GRCh38]
Chr19:50412227 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.172G>A (p.Gly58Ser) single nucleotide variant not provided [RCV002800607] Chr19:49909636 [GRCh38]
Chr19:50412893 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.313A>G (p.Thr105Ala) single nucleotide variant not provided [RCV002742032]|not specified [RCV004067913] Chr19:49909495 [GRCh38]
Chr19:50412752 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1288C>T (p.Arg430Cys) single nucleotide variant not provided [RCV002595900] Chr19:49908520 [GRCh38]
Chr19:50411777 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.757A>T (p.Thr253Ser) single nucleotide variant not provided [RCV003059414] Chr19:49909051 [GRCh38]
Chr19:50412308 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.652G>A (p.Glu218Lys) single nucleotide variant not specified [RCV004196145] Chr19:49891092 [GRCh38]
Chr19:50394349 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.575C>T (p.Pro192Leu) single nucleotide variant not provided [RCV002890778]|not specified [RCV004066033] Chr19:49909233 [GRCh38]
Chr19:50412490 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.778G>T (p.Ala260Ser) single nucleotide variant not provided [RCV002599066] Chr19:49909030 [GRCh38]
Chr19:50412287 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1094G>T (p.Arg365Leu) single nucleotide variant not specified [RCV004114820] Chr19:49890280 [GRCh38]
Chr19:50393537 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.738G>A (p.Ala246=) single nucleotide variant not provided [RCV002579013] Chr19:49909070 [GRCh38]
Chr19:50412327 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.377C>T (p.Ser126Leu) single nucleotide variant not provided [RCV003009406] Chr19:49909431 [GRCh38]
Chr19:50412688 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.256A>T (p.Thr86Ser) single nucleotide variant not provided [RCV002963138] Chr19:49909552 [GRCh38]
Chr19:50412809 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.737C>T (p.Ala246Val) single nucleotide variant not provided [RCV002941895] Chr19:49909071 [GRCh38]
Chr19:50412328 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.654G>A (p.Gly218=) single nucleotide variant not provided [RCV003027866] Chr19:49909154 [GRCh38]
Chr19:50412411 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.363C>T (p.Leu121=) single nucleotide variant not provided [RCV003091292] Chr19:49909445 [GRCh38]
Chr19:50412702 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.823GCCACC[1] (p.275AT[1]) microsatellite not provided [RCV002581626] Chr19:49908968..49908979 [GRCh38]
Chr19:50412225..50412236 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.589G>A (p.Ala197Thr) single nucleotide variant not specified [RCV004100131] Chr19:49909219 [GRCh38]
Chr19:50412476 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1237G>A (p.Glu413Lys) single nucleotide variant not specified [RCV004155311] Chr19:49890137 [GRCh38]
Chr19:50393394 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.778G>A (p.Ala260Thr) single nucleotide variant not provided [RCV002631696]|not specified [RCV004066626] Chr19:49909030 [GRCh38]
Chr19:50412287 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.836CCA[3] (p.Thr282del) microsatellite not provided [RCV002600840] Chr19:49908961..49908963 [GRCh38]
Chr19:50412218..50412220 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.749C>A (p.Thr250Asn) single nucleotide variant not provided [RCV002597578]|not specified [RCV004065624] Chr19:49909059 [GRCh38]
Chr19:50412316 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.572C>G (p.Thr191Ser) single nucleotide variant not provided [RCV002832988] Chr19:49909236 [GRCh38]
Chr19:50412493 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.939A>T (p.Pro313=) single nucleotide variant not provided [RCV002833578] Chr19:49908869 [GRCh38]
Chr19:50412126 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1321G>A (p.Asp441Asn) single nucleotide variant not provided [RCV002602297] Chr19:49908487 [GRCh38]
Chr19:50411744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.858C>T (p.Ser286=) single nucleotide variant not provided [RCV002653778] Chr19:49908950 [GRCh38]
Chr19:50412207 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1176G>C (p.Glu392Asp) single nucleotide variant not provided [RCV002653998] Chr19:49908632 [GRCh38]
Chr19:50411889 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.673A>G (p.Ile225Val) single nucleotide variant not provided [RCV002587921] Chr19:49909135 [GRCh38]
Chr19:50412392 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.889C>T (p.Leu297=) single nucleotide variant not provided [RCV002610050] Chr19:49908919 [GRCh38]
Chr19:50412176 [GRCh37]
Chr19:19q13.33		 likely benign
NM_172374.3(IL4I1):c.44T>G (p.Met15Arg) single nucleotide variant not specified [RCV004078058] Chr19:49901674 [GRCh38]
Chr19:50404931 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.813_821del (p.Ser272_Ala274del) deletion not provided [RCV002654394] Chr19:49908987..49908995 [GRCh38]
Chr19:50412244..50412252 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.237G>A (p.Ala79=) single nucleotide variant NUP62-related disorder [RCV003926624]|not provided [RCV002944290] Chr19:49909571 [GRCh38]
Chr19:50412828 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.296T>C (p.Leu99Ser) single nucleotide variant Familial infantile bilateral striatal necrosis [RCV003133095] Chr19:49909512 [GRCh38]
Chr19:50412769 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.704C>G (p.Thr235Ser) single nucleotide variant not provided [RCV003730446]|not specified [RCV004255949] Chr19:49909104 [GRCh38]
Chr19:50412361 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.249G>T (p.Ser83=) single nucleotide variant not provided [RCV003415370] Chr19:49909559 [GRCh38]
Chr19:50412816 [GRCh37]
Chr19:19q13.33		 likely benign
NM_152899.2(IL4I1):c.289C>T (p.Arg97Cys) single nucleotide variant not specified [RCV004350273] Chr19:49895144 [GRCh38]
Chr19:50398401 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.765C>T (p.Gly255=) single nucleotide variant not provided [RCV003663829] Chr19:49909043 [GRCh38]
Chr19:50412300 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.7G>A (p.Gly3Arg) single nucleotide variant not provided [RCV003717302] Chr19:49909801 [GRCh38]
Chr19:50413058 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1029G>A (p.Glu343=) single nucleotide variant not provided [RCV003733418] Chr19:49908779 [GRCh38]
Chr19:50412036 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1232A>G (p.Glu411Gly) single nucleotide variant not provided [RCV003718879] Chr19:49908576 [GRCh38]
Chr19:50411833 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1544G>A (p.Arg515His) single nucleotide variant not provided [RCV003734092] Chr19:49908264 [GRCh38]
Chr19:50411521 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.436A>T (p.Thr146Ser) single nucleotide variant not provided [RCV003684510] Chr19:49909372 [GRCh38]
Chr19:50412629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.371C>G (p.Ala124Gly) single nucleotide variant not provided [RCV003715277] Chr19:49909437 [GRCh38]
Chr19:50412694 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.832A>G (p.Thr278Ala) single nucleotide variant not provided [RCV003673432] Chr19:49908976 [GRCh38]
Chr19:50412233 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.827C>T (p.Thr276Ile) single nucleotide variant not provided [RCV003675189] Chr19:49908981 [GRCh38]
Chr19:50412238 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1077C>T (p.Asn359=) single nucleotide variant not provided [RCV003670036] Chr19:49908731 [GRCh38]
Chr19:50411988 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1254C>T (p.Ser418=) single nucleotide variant not provided [RCV003724964] Chr19:49908554 [GRCh38]
Chr19:50411811 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1130G>A (p.Arg377His) single nucleotide variant not provided [RCV003725339]|not specified [RCV004374071] Chr19:49908678 [GRCh38]
Chr19:50411935 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_016553.5(NUP62):c.402C>A (p.Gly134=) single nucleotide variant not provided [RCV003546254] Chr19:49909406 [GRCh38]
Chr19:50412663 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.507C>T (p.Ser169=) single nucleotide variant not provided [RCV003560804] Chr19:49909301 [GRCh38]
Chr19:50412558 [GRCh37]
Chr19:19q13.33		 benign
NM_016553.5(NUP62):c.271G>A (p.Gly91Arg) single nucleotide variant not provided [RCV003566199] Chr19:49909537 [GRCh38]
Chr19:50412794 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1235A>G (p.Glu412Gly) single nucleotide variant not provided [RCV003545669] Chr19:49908573 [GRCh38]
Chr19:50411830 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.254G>A (p.Gly85Glu) single nucleotide variant not provided [RCV003553879] Chr19:49909554 [GRCh38]
Chr19:50412811 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.770G>T (p.Ser257Ile) single nucleotide variant not provided [RCV003838581] Chr19:49909038 [GRCh38]
Chr19:50412295 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1387G>A (p.Ala463Thr) single nucleotide variant not provided [RCV003855984] Chr19:49908421 [GRCh38]
Chr19:50411678 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_016553.5(NUP62):c.457A>G (p.Thr153Ala) single nucleotide variant not provided [RCV003853103] Chr19:49909351 [GRCh38]
Chr19:50412608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1111A>G (p.Lys371Glu) single nucleotide variant not specified [RCV004488605] Chr19:49908697 [GRCh38]
Chr19:50411954 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1412T>C (p.Leu471Pro) single nucleotide variant not specified [RCV004488607] Chr19:49908396 [GRCh38]
Chr19:50411653 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1520A>T (p.Glu507Val) single nucleotide variant not specified [RCV004488610] Chr19:49908288 [GRCh38]
Chr19:50411545 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.561G>A (p.Thr187=) single nucleotide variant NUP62-related disorder [RCV003919499] Chr19:49909247 [GRCh38]
Chr19:50412504 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1259C>T (p.Thr420Ile) single nucleotide variant not specified [RCV004488606] Chr19:49908549 [GRCh38]
Chr19:50411806 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.1146G>A (p.Val382=) single nucleotide variant NUP62-related disorder [RCV003949658] Chr19:49908662 [GRCh38]
Chr19:50411919 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016553.5(NUP62):c.1503G>C (p.Glu501Asp) single nucleotide variant not specified [RCV004488609] Chr19:49908305 [GRCh38]
Chr19:50411562 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016553.5(NUP62):c.992C>T (p.Ala331Val) single nucleotide variant not specified [RCV004488611] Chr19:49908816 [GRCh38]
Chr19:50412073 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1112G>A (p.Gly371Asp) single nucleotide variant not specified [RCV004405294] Chr19:49890262 [GRCh38]
Chr19:50393519 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.51C>A (p.Ser17Arg) single nucleotide variant not specified [RCV004405295] Chr19:49896016 [GRCh38]
Chr19:50399273 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1415C>T (p.Pro472Leu) single nucleotide variant not specified [RCV004405296] Chr19:49889959 [GRCh38]
Chr19:50393216 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.82C>T (p.Arg28Cys) single nucleotide variant not specified [RCV004405297] Chr19:49895985 [GRCh38]
Chr19:50399242 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1525G>C (p.Gly509Arg) single nucleotide variant not specified [RCV004405298] Chr19:49889849 [GRCh38]
Chr19:50393106 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.1529C>A (p.Pro510His) single nucleotide variant not specified [RCV004405299] Chr19:49889845 [GRCh38]
Chr19:50393102 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.161A>G (p.Asn54Ser) single nucleotide variant not specified [RCV004405300] Chr19:49895906 [GRCh38]
Chr19:50399163 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_152899.2(IL4I1):c.402C>A (p.Asn134Lys) single nucleotide variant not specified [RCV004405301] Chr19:49894433 [GRCh38]
Chr19:50397690 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3028
Count of miRNA genes:876
Interacting mature miRNAs:1078
Transcripts:ENST00000341114, ENST00000391826, ENST00000593956, ENST00000595948, ENST00000596011, ENST00000596022, ENST00000597295, ENST00000601717
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407181748GWAS830724_Hhearing loss QTL GWAS830724 (human)1e-08hearing loss194990717549907176Human
407391986GWAS1040962_Hage at menopause QTL GWAS1040962 (human)2e-08age at menopause194992813149928132Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
D19S998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,410,156 - 50,410,333UniSTSGRCh37
Build 361955,101,968 - 55,102,145RGDNCBI36
Celera1947,279,669 - 47,279,846RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1946,786,491 - 46,786,668UniSTS
Stanford-G3 RH Map192545.0UniSTS
NCBI RH Map19553.5UniSTS
GeneMap99-G3 RH Map192556.0UniSTS
RH79668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,434,170 - 50,434,312UniSTSGRCh37
Build 361955,125,982 - 55,126,124RGDNCBI36
Celera1947,303,684 - 47,303,826RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map19q13.33UniSTS
HuRef1946,810,427 - 46,810,569UniSTS
GeneMap99-GB4 RH Map19269.56UniSTS
RH46521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,414,505 - 50,414,639UniSTSGRCh37
Build 361955,106,317 - 55,106,451RGDNCBI36
Celera1947,284,017 - 47,284,151RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1946,790,838 - 46,790,972UniSTS
GeneMap99-GB4 RH Map19269.66UniSTS
PMC150528P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,411,697 - 50,412,077UniSTSGRCh37
Build 361955,103,509 - 55,103,889RGDNCBI36
Celera1947,281,209 - 47,281,589RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1946,788,030 - 46,788,410UniSTS
PMC150528P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,411,499 - 50,411,696UniSTSGRCh37
Build 361955,103,311 - 55,103,508RGDNCBI36
Celera1947,281,011 - 47,281,208RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1946,787,832 - 46,788,029UniSTS
RH71288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,411,451 - 50,411,618UniSTSGRCh37
Build 361955,103,263 - 55,103,430RGDNCBI36
Celera1947,280,963 - 47,281,130RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1946,787,784 - 46,787,951UniSTS
GeneMap99-GB4 RH Map19272.69UniSTS
NCBI RH Map19533.4UniSTS
NUP62  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,411,589 - 50,411,929UniSTSGRCh37
Celera1947,281,101 - 47,281,441UniSTS
HuRef1946,787,922 - 46,788,262UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2421 2757 2215 4928 1714 2328 4 618 1937 460 2259 7207 6407 49 3698 848 1729 1599 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF293462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF293463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ880386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ880387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ880388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ880389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ672052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ079587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ079588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ079589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341114   ⟹   ENSP00000342557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,889,654 - 49,929,539 (-)Ensembl
Ensembl Acc Id: ENST00000391826   ⟹   ENSP00000375702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,889,654 - 49,896,887 (-)Ensembl
Ensembl Acc Id: ENST00000593956   ⟹   ENSP00000470120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,894,274 - 49,896,868 (-)Ensembl
Ensembl Acc Id: ENST00000595948   ⟹   ENSP00000472474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,889,654 - 49,929,539 (-)Ensembl
Ensembl Acc Id: ENST00000596011   ⟹   ENSP00000472786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,895,970 - 49,929,492 (-)Ensembl
Ensembl Acc Id: ENST00000596022   ⟹   ENSP00000471950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,895,815 - 49,929,496 (-)Ensembl
Ensembl Acc Id: ENST00000597295   ⟹   ENSP00000469841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,895,854 - 49,929,496 (-)Ensembl
Ensembl Acc Id: ENST00000601717   ⟹   ENSP00000469467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,889,654 - 49,929,416 (-)Ensembl
RefSeq Acc Id: NM_001258017   ⟹   NP_001244946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,929,504 (-)NCBI
GRCh371950,392,911 - 50,432,796 (-)NCBI
HuRef1946,769,248 - 46,809,051 (-)NCBI
CHM1_11950,394,747 - 50,434,624 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258018   ⟹   NP_001244947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,929,504 (-)NCBI
GRCh371950,392,911 - 50,432,796 (-)NCBI
HuRef1946,769,248 - 46,809,051 (-)NCBI
CHM1_11950,394,747 - 50,434,624 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385639   ⟹   NP_001372568
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,896,887 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,897,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152899   ⟹   NP_690863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,896,887 (-)NCBI
GRCh371950,392,911 - 50,432,796 (-)NCBI
Build 361955,084,723 - 55,091,959 (-)NCBI Archive
Celera1947,262,414 - 47,302,277 (-)RGD
HuRef1946,769,248 - 46,809,051 (-)NCBI
CHM1_11950,394,747 - 50,401,991 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,897,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172374   ⟹   NP_758962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,929,504 (-)NCBI
GRCh371950,392,911 - 50,432,796 (-)NCBI
Build 361955,084,723 - 55,124,574 (-)NCBI Archive
Celera1947,262,414 - 47,302,277 (-)RGD
HuRef1946,769,248 - 46,809,051 (-)NCBI
CHM1_11950,394,747 - 50,434,624 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047577
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,889,654 - 49,929,504 (-)NCBI
GRCh371950,392,911 - 50,432,796 (-)NCBI
HuRef1946,769,248 - 46,809,051 (-)NCBI
CHM1_11950,394,747 - 50,434,624 (-)NCBI
T2T-CHM13v2.01952,889,790 - 52,929,639 (-)NCBI
Sequence:
RefSeq Acc Id: NP_758962   ⟸   NM_172374
- Peptide Label: isoform 2 precursor
- UniProtKB: A2RRH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_690863   ⟸   NM_152899
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8TEM5 (UniProtKB/Swiss-Prot),   Q6P2Q3 (UniProtKB/Swiss-Prot),   Q4GZN2 (UniProtKB/Swiss-Prot),   Q4GZN1 (UniProtKB/Swiss-Prot),   Q1WMJ3 (UniProtKB/Swiss-Prot),   Q96RQ8 (UniProtKB/Swiss-Prot),   Q96RQ9 (UniProtKB/Swiss-Prot),   A2RRH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244946   ⟸   NM_001258017
- Peptide Label: isoform 2 precursor
- UniProtKB: A2RRH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244947   ⟸   NM_001258018
- Peptide Label: isoform 2 precursor
- UniProtKB: A2RRH1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000472474   ⟸   ENST00000595948
Ensembl Acc Id: ENSP00000472786   ⟸   ENST00000596011
Ensembl Acc Id: ENSP00000471950   ⟸   ENST00000596022
Ensembl Acc Id: ENSP00000469841   ⟸   ENST00000597295
Ensembl Acc Id: ENSP00000469467   ⟸   ENST00000601717
Ensembl Acc Id: ENSP00000375702   ⟸   ENST00000391826
Ensembl Acc Id: ENSP00000342557   ⟸   ENST00000341114
Ensembl Acc Id: ENSP00000470120   ⟸   ENST00000593956
RefSeq Acc Id: NP_001372568   ⟸   NM_001385639
- Peptide Label: isoform 3 precursor
- UniProtKB: A2RRH1 (UniProtKB/TrEMBL)
Protein Domains
Amine oxidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RQ9-F1-model_v2 AlphaFold Q96RQ9 1-567 view protein structure

Promoters
RGD ID:13205209
Promoter ID:EPDNEW_H26185
Type:initiation region
Name:IL4I1_1
Description:interleukin 4 induced 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26186  EPDNEW_H26189  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,896,887 - 49,896,947EPDNEW
RGD ID:13205211
Promoter ID:EPDNEW_H26186
Type:single initiation site
Name:IL4I1_3
Description:interleukin 4 induced 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26185  EPDNEW_H26189  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,903,663 - 49,903,723EPDNEW
RGD ID:13205217
Promoter ID:EPDNEW_H26189
Type:initiation region
Name:IL4I1_2
Description:interleukin 4 induced 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26185  EPDNEW_H26186  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,929,438 - 49,929,498EPDNEW
RGD ID:6795669
Promoter ID:HG_KWN:30588
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:UC002PQT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,091,851 - 55,092,957 (-)MPROMDB
RGD ID:6795673
Promoter ID:HG_KWN:30590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000391824,   NM_012346,   NM_016553,   NM_153718,   NM_153719,   UC002PQU.1,   UC002PQV.1,   UC002PQW.1,   UC002PQX.1,   UC002PRC.2,   UC010ENO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,123,011 - 55,125,007 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19094 AgrOrtholog
COSMIC IL4I1 COSMIC
Ensembl Genes ENSG00000104951 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341114 ENTREZGENE
  ENST00000341114.7 UniProtKB/Swiss-Prot
  ENST00000391826 ENTREZGENE
  ENST00000391826.7 UniProtKB/Swiss-Prot
  ENST00000593956.5 UniProtKB/TrEMBL
  ENST00000595948 ENTREZGENE
  ENST00000595948.5 UniProtKB/Swiss-Prot
  ENST00000596011.1 UniProtKB/TrEMBL
  ENST00000596022.5 UniProtKB/TrEMBL
  ENST00000597295.5 UniProtKB/TrEMBL
  ENST00000601717 ENTREZGENE
  ENST00000601717.5 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.660.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanine Nucleotide Dissociation Inhibitor, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104951 GTEx
HGNC ID HGNC:19094 ENTREZGENE
Human Proteome Map IL4I1 Human Proteome Map
InterPro Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_amine_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_monoamine_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:259307 UniProtKB/Swiss-Prot
NCBI Gene 259307 ENTREZGENE
OMIM 609742 OMIM
PANTHER FLAVIN MONOAMINE OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-AMINO-ACID OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38795 PharmGKB
PRINTS AMINEOXDASEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FAD-linked reductases, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-binding domain UniProtKB/TrEMBL
  SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRH1 ENTREZGENE, UniProtKB/TrEMBL
  M0QXY7_HUMAN UniProtKB/TrEMBL
  M0QYH9_HUMAN UniProtKB/TrEMBL
  M0QYW8_HUMAN UniProtKB/TrEMBL
  M0R1L1_HUMAN UniProtKB/TrEMBL
  M0R2S9_HUMAN UniProtKB/TrEMBL
  OXLA_HUMAN UniProtKB/Swiss-Prot
  Q1WMJ3 ENTREZGENE
  Q4GZN1 ENTREZGENE
  Q4GZN2 ENTREZGENE
  Q6P2Q3 ENTREZGENE
  Q8TEM5 ENTREZGENE
  Q96RQ8 ENTREZGENE
  Q96RQ9 ENTREZGENE
UniProt Secondary Q1WMJ3 UniProtKB/Swiss-Prot
  Q4GZN1 UniProtKB/Swiss-Prot
  Q4GZN2 UniProtKB/Swiss-Prot
  Q6P2Q3 UniProtKB/Swiss-Prot
  Q8TEM5 UniProtKB/Swiss-Prot
  Q96RQ8 UniProtKB/Swiss-Prot