LIPI (lipase I) - Rat Genome Database

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Gene: LIPI (lipase I) Homo sapiens
Analyze
Symbol: LIPI
Name: lipase I
RGD ID: 1605865
HGNC Page HGNC:18821
Description: Enables heparin binding activity and phospholipase activity. Involved in lipid catabolic process. Located in extracellular space and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 17; CT17; lipase member I; lipase, member I; LPD lipase; LPDL; membrane-associated phosphatidic acid-selective phospholipase A1-beta; membrane-associated phospholipase A1 beta; membrane-associated phospholipase A1 beta 7B+; membrane-associated phospholipase A1 beta deltaE2-3; membrane-associated phospholipase A1 beta deltaE5; membrane-associated phospholipase A1 beta deltaE6.1; membrane-associated phospholipase A1 beta deltaE7.2; membrane-associated phospholipase A1 beta deltaE8-9; membrane-associated phospholipase A1 beta fl; mPA-PLA1 beta; PLA1C; PRED5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382114,108,812 - 14,210,955 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2114,108,813 - 14,210,955 (-)EnsemblGRCh38hg38GRCh38
GRCh372115,481,133 - 15,583,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362114,403,005 - 14,501,125 (-)NCBINCBI36Build 36hg18NCBI36
Celera21638,370 - 736,505 (-)NCBICelera
Cytogenetic Map21q11.2NCBI
HuRef21851,595 - 949,613 (-)NCBIHuRef
CHM1_12115,041,616 - 15,139,768 (-)NCBICHM1_1
T2T-CHM13v2.02112,451,516 - 12,553,663 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
extracellular region  (IEA)
extracellular space  (IBA,IDA,IEA)
plasma membrane  (IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. Wen XY, etal., Hum Mol Genet. 2003 May 15;12(10):1131-43.
Additional References at PubMed
PMID:10830953   PMID:12963729   PMID:15548687   PMID:18435455   PMID:21132378   PMID:21873635   PMID:23611148   PMID:29987050   PMID:30975701  


Genomics

Comparative Map Data
LIPI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382114,108,812 - 14,210,955 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2114,108,813 - 14,210,955 (-)EnsemblGRCh38hg38GRCh38
GRCh372115,481,133 - 15,583,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362114,403,005 - 14,501,125 (-)NCBINCBI36Build 36hg18NCBI36
Celera21638,370 - 736,505 (-)NCBICelera
Cytogenetic Map21q11.2NCBI
HuRef21851,595 - 949,613 (-)NCBIHuRef
CHM1_12115,041,616 - 15,139,768 (-)NCBICHM1_1
T2T-CHM13v2.02112,451,516 - 12,553,663 (-)NCBIT2T-CHM13v2.0
Lipi
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391675,337,431 - 75,382,960 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1675,337,402 - 75,382,949 (-)EnsemblGRCm39 Ensembl
GRCm381675,540,514 - 75,586,072 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1675,540,514 - 75,586,061 (-)EnsemblGRCm38mm10GRCm38
MGSCv371675,540,789 - 75,730,778 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361675,423,224 - 75,450,362 (-)NCBIMGSCv36mm8
Celera1675,777,640 - 75,819,822 (-)NCBICelera
Cytogenetic Map16C3.1NCBI
cM Map1643.22NCBI
Lipi
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81127,676,354 - 27,716,025 (-)NCBIGRCr8
mRatBN7.21114,189,323 - 14,228,992 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1114,189,323 - 14,228,985 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1122,814,757 - 22,854,069 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01115,541,131 - 15,580,448 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01114,709,001 - 14,748,311 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01113,960,246 - 13,999,869 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1113,960,246 - 13,999,862 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01117,618,917 - 17,658,537 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41114,336,377 - 14,376,050 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11114,347,383 - 14,369,651 (-)NCBI
Celera1114,202,968 - 14,242,626 (-)NCBICelera
Cytogenetic Map11p11NCBI
Lipi
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540716,012,264 - 16,056,796 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540716,013,285 - 16,071,187 (-)NCBIChiLan1.0ChiLan1.0
LIPI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22210,580,859 - 10,693,126 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1215,411,435 - 5,526,865 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v021832,890 - 937,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12114,203,425 - 14,304,676 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2114,203,425 - 14,304,852 (-)Ensemblpanpan1.1panPan2
LIPI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13111,139,134 - 11,196,383 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3111,139,110 - 11,230,181 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3111,149,515 - 11,190,700 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03111,162,558 - 11,203,526 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13111,136,267 - 11,176,855 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03111,174,044 - 11,214,900 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03111,569,879 - 11,610,726 (-)NCBIUU_Cfam_GSD_1.0
Lipi
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497112,265,731 - 12,327,079 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365057,185,660 - 7,226,228 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365057,185,885 - 7,226,653 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIPI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13179,128,660 - 179,180,626 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113179,128,549 - 179,180,612 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213189,317,871 - 189,369,597 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LIPI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1278,278,754 - 78,352,973 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl278,275,913 - 78,352,855 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605075,499,469 - 75,601,547 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lipi
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247452,631,598 - 2,681,098 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247452,612,605 - 2,681,179 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LIPI
90 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001302998.2(LIPI):c.164G>A (p.Cys55Tyr) single nucleotide variant Hypertriglyceridemia 1 [RCV001851568]|not provided [RCV002054409] Chr21:14189302 [GRCh38]
Chr21:15561623 [GRCh37]
Chr21:21q11.2		 risk factor|benign|uncertain significance
NM_198996.3(LIPI):c.1358+1266T>C single nucleotide variant Lung cancer [RCV000101810] Chr21:14143357 [GRCh38]
Chr21:15515678 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 copy number loss See cases [RCV000052798] Chr21:13194345..29257208 [GRCh38]
Chr21:14566666..30629529 [GRCh37]
Chr21:13488537..29551400 [NCBI36]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1 copy number loss See cases [RCV000052800] Chr21:14019847..18125051 [GRCh38]
Chr21:15392168..19497369 [GRCh37]
Chr21:14314039..18419240 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1 copy number loss See cases [RCV000052801] Chr21:14127526..19238720 [GRCh38]
Chr21:15499847..20611037 [GRCh37]
Chr21:14421718..19532908 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1 copy number loss See cases [RCV000052775] Chr21:10953431..15707444 [GRCh37]
Chr21:9975302..14629315 [NCBI36]
Chr21:21p11.1-q11.2		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3 copy number gain See cases [RCV000053044] Chr21:13696993..21440046 [GRCh38]
Chr21:15069314..22812366 [GRCh37]
Chr21:13991185..21734237 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3 copy number gain See cases [RCV000053066] Chr21:14127526..17193289 [GRCh38]
Chr21:15499847..18565607 [GRCh37]
Chr21:14421718..17487478 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3 copy number gain See cases [RCV000053038] Chr21:13076061..19390260 [GRCh38]
Chr21:14448382..20762577 [GRCh37]
Chr21:13370253..19684448 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_198996.3(LIPI):c.1158G>A (p.Met386Ile) single nucleotide variant Malignant melanoma [RCV000072785] Chr21:14152596 [GRCh38]
Chr21:15524917 [GRCh37]
Chr21:14446788 [NCBI36]
Chr21:21q11.2		 not provided
NM_198996.3(LIPI):c.749C>T (p.Pro250Leu) single nucleotide variant Malignant melanoma [RCV000072786] Chr21:14166409 [GRCh38]
Chr21:15538730 [GRCh37]
Chr21:14460601 [NCBI36]
Chr21:21q11.2		 not provided
NM_198996.3(LIPI):c.691C>T (p.His231Tyr) single nucleotide variant Malignant melanoma [RCV000072787] Chr21:14181773 [GRCh38]
Chr21:15554094 [GRCh37]
Chr21:14475965 [NCBI36]
Chr21:21q11.2		 not provided
NM_198996.3(LIPI):c.322G>A (p.Gly108Ser) single nucleotide variant Malignant melanoma [RCV000072788] Chr21:14189207 [GRCh38]
Chr21:15561528 [GRCh37]
Chr21:14483399 [NCBI36]
Chr21:21q11.2		 not provided
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2(chr21:13399449-14335064)x3 copy number gain See cases [RCV000135366] Chr21:13399449..14335064 [GRCh38]
Chr21:14771770..15707385 [GRCh37]
Chr21:13693641..14629256 [NCBI36]
Chr21:21q11.2		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1 copy number loss See cases [RCV000138781] Chr21:14112717..21297273 [GRCh38]
Chr21:15485038..22669593 [GRCh37]
Chr21:14406909..21591464 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21q11.2(chr21:14110251-14311064)x3 copy number gain See cases [RCV000138256] Chr21:14110251..14311064 [GRCh38]
Chr21:15482572..15683385 [GRCh37]
Chr21:14404443..14605256 [NCBI36]
Chr21:21q11.2		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1 copy number loss See cases [RCV000141944] Chr21:13634136..18211199 [GRCh38]
Chr21:15006457..19583516 [GRCh37]
Chr21:13928328..18505387 [NCBI36]
Chr21:21q11.2-21.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 copy number loss See cases [RCV000143749] Chr21:13634137..27862841 [GRCh38]
Chr21:15006458..29235160 [GRCh37]
Chr21:13928329..28157031 [NCBI36]
Chr21:21q11.2-21.3		 pathogenic
NC_000021.7:g.13636378_28138533dup duplication Alzheimer disease [RCV000148341] Chr21:14714507..29216662 [GRCh37]
Chr21:13636378..28138533 [NCBI36]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) copy number loss Monosomy 21 [RCV000225561] Chr21:14000146..27785985 [GRCh38]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) copy number loss Monosomy 21 [RCV000225452] Chr21:13048294..27532614 [GRCh38]
Chr21:21p11.2-q21.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130) copy number gain See cases [RCV000447733] Chr21:15442582..20723130 [GRCh37]
Chr21:21q11.2-21.1		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1 copy number loss See cases [RCV000510539] Chr21:15006457..29225300 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2(chr21:15006458-16345684) copy number gain See cases [RCV000510560] Chr21:15006458..16345684 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-21.1(chr21:15006861-23651121)x3 copy number gain See cases [RCV000511012] Chr21:15006861..23651121 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1 copy number loss not provided [RCV000684167] Chr21:15006457..25292671 [GRCh37]
Chr21:21q11.2-21.2		 pathogenic
GRCh37/hg19 21q11.2(chr21:15380856-15587476)x3 copy number gain not provided [RCV000684137] Chr21:15380856..15587476 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q11.2(chr21:15474687-15482605)x1 copy number loss not provided [RCV000741430] Chr21:15474687..15482605 [GRCh37]
Chr21:21q11.2		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963) copy number gain not provided [RCV000767670] Chr21:10944001..25730963 [GRCh37]
Chr21:21p11.1-q21.2		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.856T>C (p.Cys286Arg) single nucleotide variant not provided [RCV000891790] Chr21:14165268 [GRCh38]
Chr21:15537589 [GRCh37]
Chr21:21q11.2		 benign
GRCh37/hg19 21q11.2(chr21:15407376-15534604)x1 copy number loss not provided [RCV000848113] Chr21:15407376..15534604 [GRCh37]
Chr21:21q11.2		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787411] Chr21:14374186..29305180 [GRCh37]
Chr21:21q11.2-21.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2(chr21:15407376-15534604)x1 copy number loss not provided [RCV000847271] Chr21:15407376..15534604 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1 copy number loss not provided [RCV001007108] Chr21:15006457..24522577 [GRCh37]
Chr21:21q11.2-21.2		 pathogenic
NM_001302998.2(LIPI):c.797C>T (p.Thr266Ile) single nucleotide variant Inborn genetic diseases [RCV003240795] Chr21:14165327 [GRCh38]
Chr21:15537648 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1 copy number loss not provided [RCV001007109] Chr21:15006457..29325923 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2(chr21:15006457-15708716)x3 copy number gain not provided [RCV001007106] Chr21:15006457..15708716 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.703C>A (p.Gln235Lys) single nucleotide variant Inborn genetic diseases [RCV003252190] Chr21:14166392 [GRCh38]
Chr21:15538713 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450) copy number gain not specified [RCV002052720] Chr21:15006457..26760450 [GRCh37]
Chr21:21q11.2-21.2		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623) copy number gain not specified [RCV002052721] Chr21:15006457..27430623 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583) copy number gain not specified [RCV002052722] Chr21:15006457..28820583 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.1074A>C (p.Lys358Asn) single nucleotide variant not provided [RCV001893091] Chr21:14152617 [GRCh38]
Chr21:15524938 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.560C>G (p.Pro187Arg) single nucleotide variant not provided [RCV002042878] Chr21:14181841 [GRCh38]
Chr21:15554162 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.535dup (p.Ile179fs) duplication not provided [RCV002050476] Chr21:14185966..14185967 [GRCh38]
Chr21:15558287..15558288 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.229G>T (p.Val77Phe) single nucleotide variant Inborn genetic diseases [RCV002547925]|not provided [RCV001867323] Chr21:14189237 [GRCh38]
Chr21:15561558 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.827G>A (p.Arg276His) single nucleotide variant not provided [RCV001952338] Chr21:14165297 [GRCh38]
Chr21:15537618 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.946G>A (p.Glu316Lys) single nucleotide variant not provided [RCV001924520] Chr21:14163479 [GRCh38]
Chr21:15535800 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.644-2A>G single nucleotide variant not provided [RCV001907485] Chr21:14166453 [GRCh38]
Chr21:15538774 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.143A>G (p.Tyr48Cys) single nucleotide variant not provided [RCV001924503] Chr21:14189323 [GRCh38]
Chr21:15561644 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.46+3896A>C single nucleotide variant not provided [RCV001999137] Chr21:14206904 [GRCh38]
Chr21:15579225 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.643+1358A>G single nucleotide variant not provided [RCV002076149] Chr21:14180400 [GRCh38]
Chr21:15552721 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.477C>T (p.Ser159=) single nucleotide variant not provided [RCV002208643] Chr21:14186025 [GRCh38]
Chr21:15558346 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.827G>T (p.Arg276Leu) single nucleotide variant Inborn genetic diseases [RCV003007139]|not provided [RCV002129376] Chr21:14165297 [GRCh38]
Chr21:15537618 [GRCh37]
Chr21:21q11.2		 likely benign|uncertain significance
NM_001302998.2(LIPI):c.734-16T>C single nucleotide variant not provided [RCV002165804] Chr21:14165406 [GRCh38]
Chr21:15537727 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1006+13C>T single nucleotide variant not provided [RCV002129813] Chr21:14163406 [GRCh38]
Chr21:15535727 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.644-16G>A single nucleotide variant not provided [RCV002072869] Chr21:14166467 [GRCh38]
Chr21:15538788 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.147A>G (p.Thr49=) single nucleotide variant not provided [RCV002085241] Chr21:14189319 [GRCh38]
Chr21:15561640 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.521G>A (p.Gly174Asp) single nucleotide variant not provided [RCV002096290] Chr21:14185981 [GRCh38]
Chr21:15558302 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1263= (p.Ser421=) variation not provided [RCV002196893] Chr21:14144655 [GRCh38]
Chr21:15516976 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.644-6T>C single nucleotide variant LIPI-related condition [RCV003933399]|not provided [RCV002117056] Chr21:14166457 [GRCh38]
Chr21:15538778 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.345_347dup (p.Gly116dup) duplication not provided [RCV002078006] Chr21:14189118..14189119 [GRCh38]
Chr21:15561439..15561440 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1368A>C (p.Thr456=) single nucleotide variant not provided [RCV002153316] Chr21:14109008 [GRCh38]
Chr21:15481329 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1006+8A>G single nucleotide variant not provided [RCV002173190] Chr21:14163411 [GRCh38]
Chr21:15535732 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.352A>G (p.Thr118Ala) single nucleotide variant not provided [RCV002124611] Chr21:14189114 [GRCh38]
Chr21:15561435 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1062G>A (p.Ser354=) single nucleotide variant not provided [RCV002087353] Chr21:14152629 [GRCh38]
Chr21:15524950 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.46+3925C>G single nucleotide variant not provided [RCV002132499] Chr21:14206875 [GRCh38]
Chr21:15579196 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.643+13G>A single nucleotide variant not provided [RCV002079254] Chr21:14181745 [GRCh38]
Chr21:15554066 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1091G>A (p.Gly364Glu) single nucleotide variant not provided [RCV002114783] Chr21:14152600 [GRCh38]
Chr21:15524921 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.541+14T>G single nucleotide variant not provided [RCV002136229] Chr21:14185947 [GRCh38]
Chr21:15558268 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1291G>A (p.Glu431Lys) single nucleotide variant not provided [RCV002118095] Chr21:14144627 [GRCh38]
Chr21:15516948 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1296-9_1296-8del microsatellite not provided [RCV002164189] Chr21:14109088..14109089 [GRCh38]
Chr21:15481409..15481410 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.288C>T (p.Phe96=) single nucleotide variant not provided [RCV002217633] Chr21:14189178 [GRCh38]
Chr21:15561499 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1332C>A (p.Asp444Glu) single nucleotide variant not provided [RCV002117938] Chr21:14109044 [GRCh38]
Chr21:15481365 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.195A>G (p.Ser65=) single nucleotide variant not provided [RCV002183641] Chr21:14189271 [GRCh38]
Chr21:15561592 [GRCh37]
Chr21:21q11.2		 likely benign
NC_000021.8:g.(?_15554059)_(16340513_?)dup duplication not provided [RCV003113270] Chr21:15554059..16340513 [GRCh37]
Chr21:21q11.2		 uncertain significance
NC_000021.8:g.(?_15481314)_(15579244_?)dup duplication not provided [RCV003113993] Chr21:15481314..15579244 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3 copy number gain See cases [RCV002287838] Chr21:15006457..29046428 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2-21.1(chr21:15006458-21778529)x1 copy number loss not provided [RCV002473713] Chr21:15006458..21778529 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
GRCh37/hg19 21q11.2(chr21:15350042-15594495)x4 copy number gain not provided [RCV002474694] Chr21:15350042..15594495 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.1(chr21:15023402-17685941)x4 copy number gain not provided [RCV002473836] Chr21:15023402..17685941 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
NM_001302998.2(LIPI):c.745A>G (p.Ile249Val) single nucleotide variant Inborn genetic diseases [RCV002779167] Chr21:14165379 [GRCh38]
Chr21:15537700 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.134T>A (p.Leu45Gln) single nucleotide variant not provided [RCV003034817] Chr21:14189332 [GRCh38]
Chr21:15561653 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.559C>A (p.Pro187Thr) single nucleotide variant not provided [RCV002616232] Chr21:14181842 [GRCh38]
Chr21:15554163 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.394G>A (p.Val132Ile) single nucleotide variant Inborn genetic diseases [RCV002661041] Chr21:14189072 [GRCh38]
Chr21:15561393 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.262T>C (p.Ser88Pro) single nucleotide variant not provided [RCV002953488] Chr21:14189204 [GRCh38]
Chr21:15561525 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.896G>A (p.Arg299Gln) single nucleotide variant Inborn genetic diseases [RCV002925895] Chr21:14165228 [GRCh38]
Chr21:15537549 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.460C>G (p.His154Asp) single nucleotide variant LIPI-related condition [RCV003936400]|not provided [RCV002909721] Chr21:14186042 [GRCh38]
Chr21:15558363 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.1204T>C (p.Leu402=) single nucleotide variant not provided [RCV002592200] Chr21:14144714 [GRCh38]
Chr21:15517035 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.627C>G (p.Ile209Met) single nucleotide variant Inborn genetic diseases [RCV002870635] Chr21:14181774 [GRCh38]
Chr21:15554095 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.553G>C (p.Ala185Pro) single nucleotide variant Inborn genetic diseases [RCV002738554] Chr21:14181848 [GRCh38]
Chr21:15554169 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1006+6T>A single nucleotide variant not provided [RCV002975706] Chr21:14163413 [GRCh38]
Chr21:15535734 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.93T>G (p.Asp31Glu) single nucleotide variant not provided [RCV003008329] Chr21:14189373 [GRCh38]
Chr21:15561694 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.370A>G (p.Arg124Gly) single nucleotide variant Inborn genetic diseases [RCV003004566] Chr21:14189096 [GRCh38]
Chr21:15561417 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1096A>G (p.Ile366Val) single nucleotide variant Inborn genetic diseases [RCV002827737] Chr21:14152595 [GRCh38]
Chr21:15524916 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1331A>T (p.Asp444Val) single nucleotide variant not provided [RCV002958625] Chr21:14109045 [GRCh38]
Chr21:15481366 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.46+3946dup duplication not provided [RCV002918268] Chr21:14206853..14206854 [GRCh38]
Chr21:15579174..15579175 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.895C>T (p.Arg299Trp) single nucleotide variant not provided [RCV003064277] Chr21:14165229 [GRCh38]
Chr21:15537550 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1182T>G (p.Phe394Leu) single nucleotide variant Inborn genetic diseases [RCV002900818] Chr21:14144736 [GRCh38]
Chr21:15517057 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.432+18A>C single nucleotide variant not provided [RCV002814893] Chr21:14189016 [GRCh38]
Chr21:15561337 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.843C>T (p.Tyr281=) single nucleotide variant not provided [RCV002680742] Chr21:14165281 [GRCh38]
Chr21:15537602 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.734-11del deletion not provided [RCV002814305] Chr21:14165401 [GRCh38]
Chr21:15537722 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.890G>A (p.Cys297Tyr) single nucleotide variant not provided [RCV002653670] Chr21:14165234 [GRCh38]
Chr21:15537555 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.590G>A (p.Arg197Lys) single nucleotide variant Inborn genetic diseases [RCV002724186] Chr21:14181811 [GRCh38]
Chr21:15554132 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.733+6C>G single nucleotide variant not provided [RCV002611437] Chr21:14166356 [GRCh38]
Chr21:15538677 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.218A>G (p.Gln73Arg) single nucleotide variant Inborn genetic diseases [RCV003178566] Chr21:14189248 [GRCh38]
Chr21:15561569 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.368A>G (p.Asn123Ser) single nucleotide variant Inborn genetic diseases [RCV003199918] Chr21:14189098 [GRCh38]
Chr21:15561419 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.694G>A (p.Gly232Arg) single nucleotide variant Inborn genetic diseases [RCV003366242] Chr21:14166401 [GRCh38]
Chr21:15538722 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.977T>C (p.Leu326Ser) single nucleotide variant Inborn genetic diseases [RCV003352052] Chr21:14163448 [GRCh38]
Chr21:15535769 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1 copy number loss not provided [RCV003483372] Chr21:15006458..19950207 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.285C>T (p.Asn95=) single nucleotide variant not provided [RCV003848931] Chr21:14189181 [GRCh38]
Chr21:15561502 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1046C>A (p.Thr349Asn) single nucleotide variant not provided [RCV003831024] Chr21:14152645 [GRCh38]
Chr21:15524966 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.601A>G (p.Thr201Ala) single nucleotide variant not provided [RCV003578074] Chr21:14181800 [GRCh38]
Chr21:15554121 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.602C>T (p.Thr201Met) single nucleotide variant not provided [RCV003577364] Chr21:14181799 [GRCh38]
Chr21:15554120 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.542-14T>G single nucleotide variant not provided [RCV003829568] Chr21:14181873 [GRCh38]
Chr21:15554194 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1034T>G (p.Val345Gly) single nucleotide variant not provided [RCV003690993] Chr21:14152657 [GRCh38]
Chr21:15524978 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1119-20G>A single nucleotide variant not provided [RCV003811208] Chr21:14144819 [GRCh38]
Chr21:15517140 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1181T>G (p.Phe394Cys) single nucleotide variant not provided [RCV003851326] Chr21:14144737 [GRCh38]
Chr21:15517058 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.565T>G (p.Phe189Val) single nucleotide variant not provided [RCV003561383] Chr21:14181836 [GRCh38]
Chr21:15554157 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.541+6A>T single nucleotide variant not provided [RCV003854508] Chr21:14185955 [GRCh38]
Chr21:15558276 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1030A>C (p.Ile344Leu) single nucleotide variant not provided [RCV003561741] Chr21:14152661 [GRCh38]
Chr21:15524982 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.466A>G (p.Ile156Val) single nucleotide variant not provided [RCV003559646] Chr21:14186036 [GRCh38]
Chr21:15558357 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.568T>C (p.Ser190Pro) single nucleotide variant not provided [RCV003840941] Chr21:14181833 [GRCh38]
Chr21:15554154 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.734-11dup duplication not provided [RCV003819015] Chr21:14165400..14165401 [GRCh38]
Chr21:15537721..15537722 [GRCh37]
Chr21:21q11.2		 benign
NM_001302998.2(LIPI):c.194C>G (p.Ser65Ter) single nucleotide variant not provided [RCV003551721] Chr21:14189272 [GRCh38]
Chr21:15561593 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.117G>T (p.Pro39=) single nucleotide variant not provided [RCV003734756] Chr21:14189349 [GRCh38]
Chr21:15561670 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2(chr21:15006458-16323835)x1 copy number loss not specified [RCV003986163] Chr21:15006458..16323835 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.542-7T>A single nucleotide variant not provided [RCV003868564] Chr21:14181866 [GRCh38]
Chr21:15554187 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.603G>A (p.Thr201=) single nucleotide variant not provided [RCV003557241] Chr21:14181798 [GRCh38]
Chr21:15554119 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.652A>C (p.Ile218Leu) single nucleotide variant not provided [RCV003871334] Chr21:14166443 [GRCh38]
Chr21:15538764 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.1007-3T>C single nucleotide variant not provided [RCV003868399] Chr21:14152687 [GRCh38]
Chr21:15525008 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001302998.2(LIPI):c.565T>A (p.Phe189Ile) single nucleotide variant not provided [RCV003734855] Chr21:14181836 [GRCh38]
Chr21:15554157 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.204T>A (p.Val68=) single nucleotide variant not provided [RCV003555838] Chr21:14189262 [GRCh38]
Chr21:15561583 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.633T>C (p.Ser211=) single nucleotide variant not provided [RCV003847926] Chr21:14181768 [GRCh38]
Chr21:15554089 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.46+3960G>A single nucleotide variant not provided [RCV003866732] Chr21:14206840 [GRCh38]
Chr21:15579161 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.918A>G (p.Leu306=) single nucleotide variant not provided [RCV003818571] Chr21:14163507 [GRCh38]
Chr21:15535828 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.1211A>G (p.Tyr404Cys) single nucleotide variant not provided [RCV003821517] Chr21:14144707 [GRCh38]
Chr21:15517028 [GRCh37]
Chr21:21q11.2		 uncertain significance
NM_001302998.2(LIPI):c.46+7T>G single nucleotide variant LIPI-related condition [RCV003936877] Chr21:14210793 [GRCh38]
Chr21:15583114 [GRCh37]
Chr21:21q11.2		 likely benign
NM_001302998.2(LIPI):c.676G>A (p.Asp226Asn) single nucleotide variant not provided [RCV003680997] Chr21:14166419 [GRCh38]
Chr21:15538740 [GRCh37]
Chr21:21q11.2		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:187
Count of miRNA genes:128
Interacting mature miRNAs:132
Transcripts:ENST00000344577, ENST00000400211, ENST00000536861
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.

Markers in Region
RH91932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372115,516,598 - 15,516,757UniSTSGRCh37
Build 362114,438,469 - 14,438,628RGDNCBI36
Celera21673,823 - 673,982RGD
Cytogenetic Map21q11.2UniSTS
HuRef21887,044 - 887,203UniSTS
D14S1263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372115,580,650 - 15,580,725UniSTSGRCh37
Build 362114,502,521 - 14,502,596RGDNCBI36
Celera21737,901 - 737,976RGD
Cytogenetic Map21q11.2UniSTS
HuRef21951,009 - 951,084UniSTS
SHGC-155914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372115,511,692 - 15,512,027UniSTSGRCh37
Build 362114,433,563 - 14,433,898RGDNCBI36
Celera21668,922 - 669,257RGD
Cytogenetic Map21q11.2UniSTS
HuRef21882,144 - 882,479UniSTS
TNG Radiation Hybrid Map210.0UniSTS
RH92170  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q11.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 9 6 21 2 2 1 9
Low 580 19 579 13 313 4 259 79 354 35 364 621 13 27 140
Below cutoff 1468 1715 616 252 643 121 2849 1242 2648 141 952 612 134 1019 1790 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC246819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI017218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY197607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY918476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI460152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN387916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344577   ⟹   ENSP00000343331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,813 - 14,206,949 (-)Ensembl
RefSeq Acc Id: ENST00000400211   ⟹   ENSP00000383072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,884 (-)Ensembl
RefSeq Acc Id: ENST00000536861   ⟹   ENSP00000440381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,891 (-)Ensembl
RefSeq Acc Id: ENST00000614229   ⟹   ENSP00000482652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,891 (-)Ensembl
RefSeq Acc Id: ENST00000679868   ⟹   ENSP00000506458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,884 (-)Ensembl
RefSeq Acc Id: ENST00000680487   ⟹   ENSP00000506194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,884 (-)Ensembl
RefSeq Acc Id: ENST00000680801   ⟹   ENSP00000505904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,893 - 14,210,891 (-)Ensembl
RefSeq Acc Id: ENST00000681601   ⟹   ENSP00000505323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2114,108,813 - 14,210,955 (-)Ensembl
RefSeq Acc Id: NM_001302998   ⟹   NP_001289927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
CHM1_12115,041,616 - 15,143,721 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302999   ⟹   NP_001289928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
CHM1_12115,041,616 - 15,143,721 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303000   ⟹   NP_001289929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
CHM1_12115,041,616 - 15,143,721 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303001   ⟹   NP_001289930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
CHM1_12115,041,616 - 15,143,721 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379565   ⟹   NP_001366494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379566   ⟹   NP_001366495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,813 - 14,210,955 (-)NCBI
T2T-CHM13v2.02112,451,517 - 12,553,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198996   ⟹   NP_945347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,108,812 - 14,206,949 (-)NCBI
GRCh372115,480,784 - 15,583,361 (-)NCBI
Build 362114,403,005 - 14,501,125 (-)NCBI Archive
Celera21638,370 - 736,505 (-)RGD
HuRef21851,595 - 949,613 (-)RGD
CHM1_12115,041,616 - 15,139,784 (-)NCBI
T2T-CHM13v2.02112,451,516 - 12,549,657 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723965   ⟹   XP_006724028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,152,296 - 14,210,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054324334   ⟹   XP_054180309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02112,495,003 - 12,553,663 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_945347   ⟸   NM_198996
- Peptide Label: isoform 5
- UniProtKB: A0A2Q2TCK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724028   ⟸   XM_006723965
- Peptide Label: isoform X1
- UniProtKB: A0A2Q2TCK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289928   ⟸   NM_001302999
- Peptide Label: isoform 2
- UniProtKB: A0A087WZG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289929   ⟸   NM_001303000
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A2Q2TCK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289930   ⟸   NM_001303001
- Peptide Label: isoform 4
- UniProtKB: H0Y3S0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289927   ⟸   NM_001302998
- Peptide Label: isoform 1 precursor
- UniProtKB: G1JSG8 (UniProtKB/Swiss-Prot),   G1JSG7 (UniProtKB/Swiss-Prot),   G1JSG6 (UniProtKB/Swiss-Prot),   G1JSG5 (UniProtKB/Swiss-Prot),   G1JSG4 (UniProtKB/Swiss-Prot),   G1JSG3 (UniProtKB/Swiss-Prot),   G1JSG9 (UniProtKB/Swiss-Prot),   Q6XZB0 (UniProtKB/Swiss-Prot),   A0A2Q2TCK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366495   ⟸   NM_001379566
- Peptide Label: isoform 7 precursor
RefSeq Acc Id: NP_001366494   ⟸   NM_001379565
- Peptide Label: isoform 6
- UniProtKB: A0A087WZG8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000383072   ⟸   ENST00000400211
RefSeq Acc Id: ENSP00000482652   ⟸   ENST00000614229
RefSeq Acc Id: ENSP00000440381   ⟸   ENST00000536861
RefSeq Acc Id: ENSP00000343331   ⟸   ENST00000344577
RefSeq Acc Id: ENSP00000505904   ⟸   ENST00000680801
RefSeq Acc Id: ENSP00000506194   ⟸   ENST00000680487
RefSeq Acc Id: ENSP00000506458   ⟸   ENST00000679868
RefSeq Acc Id: ENSP00000505323   ⟸   ENST00000681601
RefSeq Acc Id: XP_054180309   ⟸   XM_054324334
- Peptide Label: isoform X1
Protein Domains
Lipase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6XZB0-F1-model_v2 AlphaFold Q6XZB0 1-460 view protein structure

Promoters
RGD ID:13602506
Promoter ID:EPDNEW_H27437
Type:initiation region
Name:LIPI_1
Description:lipase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382114,210,930 - 14,210,990EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18821 AgrOrtholog
COSMIC LIPI COSMIC
Ensembl Genes ENSG00000188992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344577 ENTREZGENE
  ENST00000400211 ENTREZGENE
  ENST00000400211.3 UniProtKB/TrEMBL
  ENST00000536861 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000536861.6 UniProtKB/Swiss-Prot
  ENST00000614229 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000614229.5 UniProtKB/Swiss-Prot
  ENST00000679868 ENTREZGENE
  ENST00000679868.1 UniProtKB/Swiss-Prot
  ENST00000680487.1 UniProtKB/Swiss-Prot
  ENST00000680801 ENTREZGENE
  ENST00000680801.1 UniProtKB/Swiss-Prot
  ENST00000681601 ENTREZGENE
  ENST00000681601.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188992 GTEx
HGNC ID HGNC:18821 ENTREZGENE
Human Proteome Map LIPI Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase/vitellogenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAG_lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:149998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 149998 ENTREZGENE
OMIM 609252 OMIM
PANTHER LIPASE MEMBER I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38695 PharmGKB
PIRSF Lipoprotein_lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TAGLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZG8 ENTREZGENE, UniProtKB/TrEMBL
  A0A2Q2TCK2 ENTREZGENE, UniProtKB/TrEMBL
  G1JSG3 ENTREZGENE
  G1JSG4 ENTREZGENE
  G1JSG5 ENTREZGENE
  G1JSG6 ENTREZGENE
  G1JSG7 ENTREZGENE
  G1JSG8 ENTREZGENE
  G1JSG9 ENTREZGENE
  H0Y3S0 ENTREZGENE, UniProtKB/TrEMBL
  LIPI_HUMAN UniProtKB/Swiss-Prot
  Q5D1Q2_HUMAN UniProtKB/TrEMBL
  Q6XZB0 ENTREZGENE
UniProt Secondary G1JSG3 UniProtKB/Swiss-Prot
  G1JSG4 UniProtKB/Swiss-Prot
  G1JSG5 UniProtKB/Swiss-Prot
  G1JSG6 UniProtKB/Swiss-Prot
  G1JSG7 UniProtKB/Swiss-Prot
  G1JSG8 UniProtKB/Swiss-Prot
  G1JSG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 LIPI  lipase I    lipase, member I  Symbol and/or name change 5135510 APPROVED