CILP (cartilage intermediate layer protein) - Rat Genome Database

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Gene: CILP (cartilage intermediate layer protein) Homo sapiens
Analyze
Symbol: CILP
Name: cartilage intermediate layer protein
RGD ID: 1312971
HGNC Page HGNC:1980
Description: Predicted to be an extracellular matrix structural constituent. Involved in negative regulation of gene expression and negative regulation of signal transduction. Located in collagen-containing extracellular matrix and extracellular space. Implicated in osteoarthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cartilage intermediate layer protein 1; cartilage intermediate layer protein 1 C1; cartilage intermediate layer protein 1 C2; cartilage intermediate layer protein, nucleotide pyrophosphohydrolase; cartilage intermediate-layer protein; CILP-1; CILP1; HsT18872
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
GRCh381565,194,760 - 65,211,473 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1565,194,760 - 65,211,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371565,487,098 - 65,503,811 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361563,275,397 - 63,290,864 (-)NCBINCBI36Build 36hg18NCBI36
Build 341563,275,397 - 63,290,864NCBI
Celera1542,366,412 - 42,381,920 (-)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1542,312,970 - 42,328,483 (-)NCBIHuRef
CHM1_11565,608,049 - 65,623,554 (-)NCBICHM1_1
T2T-CHM13v2.01563,004,114 - 63,020,834 (-)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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Association study of candidate genes for the prevalence and progression of knee osteoarthritis. Valdes AM, etal., Arthritis Rheum. 2004 Aug;50(8):2497-507.
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:9722583   PMID:9722584   PMID:10319588   PMID:10601732   PMID:11315923   PMID:12477932   PMID:12483726   PMID:12746903   PMID:12975309   PMID:14962958  
PMID:15378262   PMID:15489334   PMID:15864306   PMID:16344560   PMID:16413503   PMID:16453284   PMID:17220213   PMID:19569011   PMID:20724643   PMID:21873635   PMID:22107760   PMID:23443559  
PMID:23533145   PMID:27068509   PMID:27359356   PMID:27559042   PMID:29167509   PMID:29233086   PMID:30288688   PMID:37968343   PMID:38132152  


Genomics

Comparative Map Data
CILP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381565,194,760 - 65,211,473 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1565,194,760 - 65,211,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371565,487,098 - 65,503,811 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361563,275,397 - 63,290,864 (-)NCBINCBI36Build 36hg18NCBI36
Build 341563,275,397 - 63,290,864NCBI
Celera1542,366,412 - 42,381,920 (-)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1542,312,970 - 42,328,483 (-)NCBIHuRef
CHM1_11565,608,049 - 65,623,554 (-)NCBICHM1_1
T2T-CHM13v2.01563,004,114 - 63,020,834 (-)NCBIT2T-CHM13v2.0
Cilp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39965,172,462 - 65,187,896 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl965,172,462 - 65,187,887 (+)EnsemblGRCm39 Ensembl
GRCm38965,265,180 - 65,280,614 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl965,265,180 - 65,280,605 (+)EnsemblGRCm38mm10GRCm38
MGSCv37965,112,987 - 65,128,412 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36965,063,186 - 65,078,611 (+)NCBIMGSCv36mm8
Celera962,495,518 - 62,510,943 (+)NCBICelera
Cytogenetic Map9CNCBI
cM Map935.2NCBI
Cilp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8874,671,696 - 74,687,420 (+)NCBIGRCr8
mRatBN7.2865,777,281 - 65,792,251 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl865,777,281 - 65,792,251 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx871,289,905 - 71,304,674 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0869,562,912 - 69,577,681 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0867,432,269 - 67,447,235 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0870,760,922 - 70,775,891 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl870,760,922 - 70,775,891 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0870,451,642 - 70,467,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4869,501,820 - 69,517,136 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1869,499,029 - 69,535,758 (+)NCBI
Celera865,175,137 - 65,190,108 (+)NCBICelera
Cytogenetic Map8q24NCBI
Cilp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545010,232,641 - 10,245,945 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545010,231,082 - 10,244,632 (+)NCBIChiLan1.0ChiLan1.0
CILP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21654,448,963 - 54,499,967 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11558,618,169 - 58,671,476 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01544,142,312 - 44,159,395 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11562,425,780 - 62,441,214 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1562,425,780 - 62,441,214 (-)Ensemblpanpan1.1panPan2
CILP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13029,573,072 - 29,587,601 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3029,573,184 - 29,650,883 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3029,502,954 - 29,517,542 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03029,762,499 - 29,777,163 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3029,762,942 - 29,793,503 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13029,694,647 - 29,709,274 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03029,756,731 - 29,771,069 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03029,997,363 - 30,011,982 (-)NCBIUU_Cfam_GSD_1.0
Cilp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640107,653,693 - 107,669,299 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647125,501,179 - 25,517,144 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647125,501,538 - 25,517,033 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CILP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1163,237,100 - 163,256,533 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11163,236,864 - 163,271,222 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21180,761,767 - 180,777,652 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CILP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12618,367,950 - 18,384,235 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2618,370,640 - 18,384,222 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048123,054,740 - 123,072,032 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cilp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247817,293,328 - 7,308,501 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247817,289,142 - 7,307,244 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CILP
77 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003613.4(CILP):c.1184T>C (p.Ile395Thr) single nucleotide variant CILP-related condition [RCV003974801]|Lumbar disc disease, susceptibility to [RCV000006692] Chr15:65201874 [GRCh38]
Chr15:65494212 [GRCh37]
Chr15:15q22.31		 risk factor|benign
GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3 copy number gain See cases [RCV000052344] Chr15:64448836..65975439 [GRCh38]
Chr15:64741035..66267777 [GRCh37]
Chr15:62528088..64054831 [NCBI36]
Chr15:15q22.31		 pathogenic
NM_003613.4(CILP):c.2698C>T (p.Arg900Trp) single nucleotide variant Inborn genetic diseases [RCV003178942] Chr15:65197588 [GRCh38]
Chr15:65489926 [GRCh37]
Chr15:63276979 [NCBI36]
Chr15:15q22.31		 uncertain significance|not provided
NM_003613.3(CILP):c.2587G>A (p.Asp863Asn) single nucleotide variant Malignant melanoma [RCV000070857] Chr15:65197699 [GRCh38]
Chr15:65490037 [GRCh37]
Chr15:63277090 [NCBI36]
Chr15:15q22.31		 not provided
NM_003613.3(CILP):c.1201C>T (p.Pro401Ser) single nucleotide variant Malignant melanoma [RCV000070858] Chr15:65199085 [GRCh38]
Chr15:65491423 [GRCh37]
Chr15:63278476 [NCBI36]
Chr15:15q22.31		 not provided
NM_003613.3(CILP):c.1959C>T (p.Pro653=) single nucleotide variant Malignant melanoma [RCV000062907] Chr15:65198327 [GRCh38]
Chr15:65490665 [GRCh37]
Chr15:63277718 [NCBI36]
Chr15:15q22.31		 not provided
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_003613.4(CILP):c.1136A>G (p.Gln379Arg) single nucleotide variant Inborn genetic diseases [RCV003300980] Chr15:65201922 [GRCh38]
Chr15:65494260 [GRCh37]
Chr15:15q22.31		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_003613.4(CILP):c.3224G>A (p.Gly1075Asp) single nucleotide variant Inborn genetic diseases [RCV003259923] Chr15:65197062 [GRCh38]
Chr15:65489400 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.340C>T (p.Arg114Cys) single nucleotide variant Inborn genetic diseases [RCV003248334] Chr15:65206866 [GRCh38]
Chr15:65499204 [GRCh37]
Chr15:15q22.31		 uncertain significance
Single allele deletion Nemaline myopathy 6 [RCV000677940] Chr15:63414894..66439797 [GRCh37]
Chr15:15q22.2-22.31		 likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_003613.4(CILP):c.3190C>T (p.Leu1064=) single nucleotide variant not provided [RCV000967367] Chr15:65197096 [GRCh38]
Chr15:65489434 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.16G>T (p.Ala6Ser) single nucleotide variant Inborn genetic diseases [RCV003243913] Chr15:65209740 [GRCh38]
Chr15:65502078 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3 copy number gain not provided [RCV000846669] Chr15:65258583..65742148 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3 copy number gain not provided [RCV000846670] Chr15:65258439..65742148 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1478G>A (p.Arg493Gln) single nucleotide variant Inborn genetic diseases [RCV003270553] Chr15:65198808 [GRCh38]
Chr15:65491146 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1075A>C (p.Ser359Arg) single nucleotide variant Inborn genetic diseases [RCV003249045] Chr15:65201983 [GRCh38]
Chr15:65494321 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.545T>C (p.Val182Ala) single nucleotide variant Inborn genetic diseases [RCV003272880] Chr15:65205346 [GRCh38]
Chr15:65497684 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1964G>A (p.Arg655Gln) single nucleotide variant Inborn genetic diseases [RCV003293841] Chr15:65198322 [GRCh38]
Chr15:65490660 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.787C>T (p.Arg263Ter) single nucleotide variant See cases [RCV001196752] Chr15:65204400 [GRCh38]
Chr15:65496738 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2759A>G (p.Asp920Gly) single nucleotide variant not provided [RCV001355625] Chr15:65197527 [GRCh38]
Chr15:65489865 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.112A>G (p.Lys38Glu) single nucleotide variant not provided [RCV001356280] Chr15:65207714 [GRCh38]
Chr15:65500052 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_003613.4(CILP):c.3338T>C (p.Val1113Ala) single nucleotide variant not provided [RCV001355618] Chr15:65196948 [GRCh38]
Chr15:65489286 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.403G>C (p.Val135Leu) single nucleotide variant Inborn genetic diseases [RCV003295433] Chr15:65206803 [GRCh38]
Chr15:65499141 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.31(chr15:64978681-65679053) copy number gain not specified [RCV002052484] Chr15:64978681..65679053 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.793C>A (p.Pro265Thr) single nucleotide variant Inborn genetic diseases [RCV003284652] Chr15:65204394 [GRCh38]
Chr15:65496732 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2919G>A (p.Met973Ile) single nucleotide variant Inborn genetic diseases [RCV002753412] Chr15:65197367 [GRCh38]
Chr15:65489705 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1234C>T (p.Arg412Trp) single nucleotide variant Inborn genetic diseases [RCV002773288] Chr15:65199052 [GRCh38]
Chr15:65491390 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1709T>C (p.Met570Thr) single nucleotide variant Inborn genetic diseases [RCV002729334] Chr15:65198577 [GRCh38]
Chr15:65490915 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3055C>T (p.Arg1019Cys) single nucleotide variant Inborn genetic diseases [RCV002779465] Chr15:65197231 [GRCh38]
Chr15:65489569 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1573A>G (p.Thr525Ala) single nucleotide variant Inborn genetic diseases [RCV002733682] Chr15:65198713 [GRCh38]
Chr15:65491051 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.31(chr15:65437410-65659163)x3 copy number gain not provided [RCV002475621] Chr15:65437410..65659163 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.629G>T (p.Gly210Val) single nucleotide variant Inborn genetic diseases [RCV002907388] Chr15:65204558 [GRCh38]
Chr15:65496896 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.302C>G (p.Pro101Arg) single nucleotide variant Inborn genetic diseases [RCV002687106] Chr15:65206904 [GRCh38]
Chr15:65499242 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1951A>G (p.Thr651Ala) single nucleotide variant Inborn genetic diseases [RCV002947009] Chr15:65198335 [GRCh38]
Chr15:65490673 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1034A>G (p.His345Arg) single nucleotide variant Inborn genetic diseases [RCV002794624] Chr15:65202024 [GRCh38]
Chr15:65494362 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.62G>C (p.Gly21Ala) single nucleotide variant Inborn genetic diseases [RCV002704720] Chr15:65207764 [GRCh38]
Chr15:65500102 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1700A>C (p.Glu567Ala) single nucleotide variant Inborn genetic diseases [RCV002762160] Chr15:65198586 [GRCh38]
Chr15:65490924 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3341C>G (p.Ala1114Gly) single nucleotide variant Inborn genetic diseases [RCV002781961] Chr15:65196945 [GRCh38]
Chr15:65489283 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2147T>G (p.Phe716Cys) single nucleotide variant Inborn genetic diseases [RCV002924815] Chr15:65198139 [GRCh38]
Chr15:65490477 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2529C>A (p.Asn843Lys) single nucleotide variant Inborn genetic diseases [RCV002998199] Chr15:65197757 [GRCh38]
Chr15:65490095 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1942G>A (p.Glu648Lys) single nucleotide variant Inborn genetic diseases [RCV002978170] Chr15:65198344 [GRCh38]
Chr15:65490682 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3451C>A (p.Pro1151Thr) single nucleotide variant Inborn genetic diseases [RCV002798740] Chr15:65196835 [GRCh38]
Chr15:65489173 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1477C>T (p.Arg493Trp) single nucleotide variant Inborn genetic diseases [RCV002868321] Chr15:65198809 [GRCh38]
Chr15:65491147 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1765C>A (p.Leu589Met) single nucleotide variant Inborn genetic diseases [RCV003004709] Chr15:65198521 [GRCh38]
Chr15:65490859 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.142G>A (p.Asp48Asn) single nucleotide variant Inborn genetic diseases [RCV002708684] Chr15:65207684 [GRCh38]
Chr15:65500022 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.958C>T (p.Arg320Trp) single nucleotide variant Inborn genetic diseases [RCV002892905] Chr15:65203432 [GRCh38]
Chr15:65495770 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1546C>T (p.Arg516Cys) single nucleotide variant Inborn genetic diseases [RCV003003586] Chr15:65198740 [GRCh38]
Chr15:65491078 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.694C>T (p.Leu232Phe) single nucleotide variant Inborn genetic diseases [RCV002915181] Chr15:65204493 [GRCh38]
Chr15:65496831 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2194G>C (p.Gly732Arg) single nucleotide variant Inborn genetic diseases [RCV003004290] Chr15:65198092 [GRCh38]
Chr15:65490430 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2981G>A (p.Arg994Gln) single nucleotide variant Inborn genetic diseases [RCV002929463] Chr15:65197305 [GRCh38]
Chr15:65489643 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.802T>C (p.Cys268Arg) single nucleotide variant Inborn genetic diseases [RCV002878676] Chr15:65204385 [GRCh38]
Chr15:65496723 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3169G>A (p.Asp1057Asn) single nucleotide variant Inborn genetic diseases [RCV002939951] Chr15:65197117 [GRCh38]
Chr15:65489455 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1789C>T (p.Pro597Ser) single nucleotide variant Inborn genetic diseases [RCV002937024] Chr15:65198497 [GRCh38]
Chr15:65490835 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.263G>A (p.Arg88His) single nucleotide variant Inborn genetic diseases [RCV002679934] Chr15:65206943 [GRCh38]
Chr15:65499281 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.434G>A (p.Arg145His) single nucleotide variant Inborn genetic diseases [RCV002678639] Chr15:65205457 [GRCh38]
Chr15:65497795 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.749C>T (p.Pro250Leu) single nucleotide variant Inborn genetic diseases [RCV003188405] Chr15:65204438 [GRCh38]
Chr15:65496776 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.505G>A (p.Gly169Arg) single nucleotide variant Inborn genetic diseases [RCV003220913] Chr15:65205386 [GRCh38]
Chr15:65497724 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1043C>T (p.Thr348Ile) single nucleotide variant Inborn genetic diseases [RCV003203979] Chr15:65202015 [GRCh38]
Chr15:65494353 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1525C>A (p.His509Asn) single nucleotide variant Inborn genetic diseases [RCV003173274] Chr15:65198761 [GRCh38]
Chr15:65491099 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2807G>A (p.Ser936Asn) single nucleotide variant Inborn genetic diseases [RCV003173296] Chr15:65197479 [GRCh38]
Chr15:65489817 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.8G>A (p.Gly3Glu) single nucleotide variant Inborn genetic diseases [RCV003196226] Chr15:65209748 [GRCh38]
Chr15:65502086 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1450C>T (p.Arg484Trp) single nucleotide variant Inborn genetic diseases [RCV003183399] Chr15:65198836 [GRCh38]
Chr15:65491174 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1393A>G (p.Ile465Val) single nucleotide variant Inborn genetic diseases [RCV003195833] Chr15:65198893 [GRCh38]
Chr15:65491231 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1924C>G (p.Leu642Val) single nucleotide variant Inborn genetic diseases [RCV003191837] Chr15:65198362 [GRCh38]
Chr15:65490700 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1395C>G (p.Ile465Met) single nucleotide variant Inborn genetic diseases [RCV003308525] Chr15:65198891 [GRCh38]
Chr15:65491229 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3376C>T (p.Arg1126Cys) single nucleotide variant Inborn genetic diseases [RCV003286357] Chr15:65196910 [GRCh38]
Chr15:65489248 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3008C>A (p.Ala1003Asp) single nucleotide variant Inborn genetic diseases [RCV003356967] Chr15:65197278 [GRCh38]
Chr15:65489616 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1245T>A (p.His415Gln) single nucleotide variant Inborn genetic diseases [RCV003359808] Chr15:65199041 [GRCh38]
Chr15:65491379 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.428C>T (p.Ser143Phe) single nucleotide variant Inborn genetic diseases [RCV003354262] Chr15:65205463 [GRCh38]
Chr15:65497801 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1284C>A (p.Asp428Glu) single nucleotide variant Inborn genetic diseases [RCV003348340] Chr15:65199002 [GRCh38]
Chr15:65491340 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2470G>A (p.Val824Ile) single nucleotide variant Inborn genetic diseases [RCV003386397] Chr15:65197816 [GRCh38]
Chr15:65490154 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.449G>A (p.Arg150His) single nucleotide variant Inborn genetic diseases [RCV003373833] Chr15:65205442 [GRCh38]
Chr15:65497780 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.1342C>T (p.Arg448Cys) single nucleotide variant Inborn genetic diseases [RCV003371071] Chr15:65198944 [GRCh38]
Chr15:65491282 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.976G>A (p.Val326Met) single nucleotide variant Inborn genetic diseases [RCV003383249] Chr15:65203414 [GRCh38]
Chr15:65495752 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.2941G>A (p.Val981Met) single nucleotide variant Inborn genetic diseases [RCV003369574] Chr15:65197345 [GRCh38]
Chr15:65489683 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.3101G>A (p.Arg1034His) single nucleotide variant Inborn genetic diseases [RCV003349327] Chr15:65197185 [GRCh38]
Chr15:65489523 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.198C>T (p.Gly66=) single nucleotide variant not provided [RCV003394938] Chr15:65207008 [GRCh38]
Chr15:65499346 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.567C>T (p.Ser189=) single nucleotide variant not provided [RCV003394937] Chr15:65205324 [GRCh38]
Chr15:65497662 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.1343G>A (p.Arg448His) single nucleotide variant CILP-related condition [RCV003904202] Chr15:65198943 [GRCh38]
Chr15:65491281 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.207C>T (p.Gly69=) single nucleotide variant CILP-related condition [RCV003909266] Chr15:65206999 [GRCh38]
Chr15:65499337 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.2936A>G (p.Gln979Arg) single nucleotide variant CILP-related condition [RCV003979533] Chr15:65197350 [GRCh38]
Chr15:65489688 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.1941C>T (p.Asp647=) single nucleotide variant CILP-related condition [RCV003909283] Chr15:65198345 [GRCh38]
Chr15:65490683 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.1291C>T (p.Arg431Cys) single nucleotide variant CILP-related condition [RCV003914421] Chr15:65198995 [GRCh38]
Chr15:65491333 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.3234T>C (p.Thr1078=) single nucleotide variant CILP-related condition [RCV003922295] Chr15:65197052 [GRCh38]
Chr15:65489390 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.1457C>T (p.Thr486Met) single nucleotide variant CILP-related condition [RCV003924505] Chr15:65198829 [GRCh38]
Chr15:65491167 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.3496G>A (p.Gly1166Ser) single nucleotide variant CILP-related condition [RCV003982328] Chr15:65196790 [GRCh38]
Chr15:65489128 [GRCh37]
Chr15:15q22.31		 benign
NM_003613.4(CILP):c.1458G>A (p.Thr486=) single nucleotide variant CILP-related condition [RCV003951737] Chr15:65198828 [GRCh38]
Chr15:65491166 [GRCh37]
Chr15:15q22.31		 likely benign
NM_003613.4(CILP):c.439G>A (p.Asp147Asn) single nucleotide variant Inborn genetic diseases [RCV003361779] Chr15:65205452 [GRCh38]
Chr15:65497790 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.158C>T (p.Pro53Leu) single nucleotide variant Inborn genetic diseases [RCV003378733] Chr15:65207048 [GRCh38]
Chr15:65499386 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1081C>G (p.Leu361Val) single nucleotide variant Inborn genetic diseases [RCV003379371] Chr15:65201977 [GRCh38]
Chr15:65494315 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.1632G>C (p.Arg544Ser) single nucleotide variant Inborn genetic diseases [RCV003359044] Chr15:65198654 [GRCh38]
Chr15:65490992 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_003613.4(CILP):c.616A>C (p.Thr206Pro) single nucleotide variant Inborn genetic diseases [RCV003345142] Chr15:65204571 [GRCh38]
Chr15:65496909 [GRCh37]
Chr15:15q22.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:302
Count of miRNA genes:265
Interacting mature miRNAs:278
Transcripts:ENST00000261883
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
CILP_8815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371565,488,356 - 65,489,271UniSTSGRCh37
Build 361563,275,409 - 63,276,324RGDNCBI36
Celera1542,366,431 - 42,367,346RGD
HuRef1542,312,989 - 42,313,904UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 1773 831 58 78 204 2 2618 1254 566 26 610 174 79 1126 1666 1 1
Low 508 1473 1480 407 512 320 1471 882 956 158 742 1206 86 1 78 1114 2 1
Below cutoff 83 684 166 121 1045 123 96 49 2167 195 66 150 5 8 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB022430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL602624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA503413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB071945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261883   ⟹   ENSP00000261883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1565,194,760 - 65,211,473 (-)Ensembl
RefSeq Acc Id: NM_003613   ⟹   NP_003604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381565,194,760 - 65,211,473 (-)NCBI
GRCh371565,488,337 - 65,503,840 (-)ENTREZGENE
Build 361563,275,397 - 63,290,864 (-)NCBI Archive
HuRef1542,312,970 - 42,328,483 (-)ENTREZGENE
CHM1_11565,608,049 - 65,623,554 (-)NCBI
T2T-CHM13v2.01563,004,114 - 63,020,834 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022679   ⟹   XP_016878168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381565,194,760 - 65,209,288 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379000   ⟹   XP_054234975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01563,004,114 - 63,018,649 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003604   ⟸   NM_003613
- Peptide Label: preproprotein
- UniProtKB: Q6UW99 (UniProtKB/Swiss-Prot),   O75339 (UniProtKB/Swiss-Prot),   B2R8F7 (UniProtKB/Swiss-Prot),   Q8IYI5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878168   ⟸   XM_017022679
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000261883   ⟸   ENST00000261883
RefSeq Acc Id: XP_054234975   ⟸   XM_054379000
- Peptide Label: isoform X1
Protein Domains
Ig-like C2-type   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75339-F1-model_v2 AlphaFold O75339 1-1184 view protein structure

Promoters
RGD ID:7229823
Promoter ID:EPDNEW_H20657
Type:multiple initiation site
Name:CILP_1
Description:cartilage intermediate layer protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20658  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381565,211,473 - 65,211,533EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1980 AgrOrtholog
COSMIC CILP COSMIC
Ensembl Genes ENSG00000138615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261883 ENTREZGENE
  ENST00000261883.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000138615 GTEx
HGNC ID HGNC:1980 ENTREZGENE
Human Proteome Map CILP Human Proteome Map
InterPro CarboxyPept-like_regulatory UniProtKB/Swiss-Prot
  CILP1/CILP2 UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
  WxxW_domain UniProtKB/Swiss-Prot
KEGG Report hsa:8483 UniProtKB/Swiss-Prot
NCBI Gene 8483 ENTREZGENE
OMIM 603489 OMIM
PANTHER CARTILAGE INTERMEDIATE LAYER PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR15031 UniProtKB/Swiss-Prot
Pfam Ig_3 UniProtKB/Swiss-Prot
  Mucin2_WxxW UniProtKB/Swiss-Prot
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA26518 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49464 UniProtKB/Swiss-Prot
  SSF82895 UniProtKB/Swiss-Prot
UniProt B2R8F7 ENTREZGENE
  CILP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6UW99 ENTREZGENE
  Q8IYI5 ENTREZGENE
UniProt Secondary B2R8F7 UniProtKB/Swiss-Prot
  Q6UW99 UniProtKB/Swiss-Prot
  Q8IYI5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CILP  cartilage intermediate layer protein    cartilage intermediate layer protein, nucleotide pyrophosphohydrolase  Symbol and/or name change 5135510 APPROVED