CYTL1 (cytokine like 1) - Rat Genome Database

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Gene: CYTL1 (cytokine like 1) Homo sapiens
Analyze
Symbol: CYTL1
Name: cytokine like 1
RGD ID: 1351161
HGNC Page HGNC:24435
Description: Predicted to enable signaling receptor binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cartilage homeostasis; chondrocyte differentiation; and chondroitin sulfate proteoglycan biosynthetic process. Predicted to be located in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C17; C4orf4; cytokine-like 1; cytokine-like protein 1; cytokine-like protein C17
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
GRCh3845,014,586 - 5,019,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl45,014,586 - 5,019,458 (-)EnsemblGRCh38hg38GRCh38
GRCh3745,016,313 - 5,021,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3645,067,214 - 5,072,098 (-)NCBINCBI36Build 36hg18NCBI36
Build 3445,134,387 - 5,139,269NCBI
Celera44,913,525 - 4,918,414 (-)NCBICelera
Cytogenetic Map4p16.2NCBI
HuRef44,952,728 - 4,957,617 (-)NCBIHuRef
CHM1_145,014,307 - 5,019,195 (-)NCBICHM1_1
T2T-CHM13v2.044,984,228 - 4,989,105 (-)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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10857752   PMID:12975309   PMID:15340161   PMID:15489334   PMID:21322034   PMID:21503106   PMID:21799806   PMID:21873635   PMID:22011669   PMID:22613542   PMID:22797702   PMID:26800213  
PMID:26922322   PMID:27084102   PMID:28478073   PMID:30582450   PMID:30718470   PMID:31089746   PMID:32736681   PMID:33690800   PMID:35115484   PMID:36543142   PMID:36825034  


Genomics

Comparative Map Data
CYTL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3845,014,586 - 5,019,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl45,014,586 - 5,019,458 (-)EnsemblGRCh38hg38GRCh38
GRCh3745,016,313 - 5,021,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3645,067,214 - 5,072,098 (-)NCBINCBI36Build 36hg18NCBI36
Build 3445,134,387 - 5,139,269NCBI
Celera44,913,525 - 4,918,414 (-)NCBICelera
Cytogenetic Map4p16.2NCBI
HuRef44,952,728 - 4,957,617 (-)NCBIHuRef
CHM1_145,014,307 - 5,019,195 (-)NCBICHM1_1
T2T-CHM13v2.044,984,228 - 4,989,105 (-)NCBIT2T-CHM13v2.0
Cytl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39537,892,863 - 37,897,164 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl537,892,863 - 37,897,164 (+)EnsemblGRCm39 Ensembl
GRCm38537,735,519 - 37,739,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl537,735,519 - 37,739,820 (+)EnsemblGRCm38mm10GRCm38
MGSCv37538,126,758 - 38,131,059 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36538,023,768 - 38,028,069 (+)NCBIMGSCv36mm8
Celera535,191,397 - 35,195,691 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.21NCBI
Cytl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81477,278,635 - 77,283,645 (-)NCBIGRCr8
mRatBN7.21473,053,876 - 73,058,886 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1473,053,877 - 73,058,886 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1477,508,028 - 77,513,034 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01478,748,888 - 78,753,890 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01475,189,427 - 75,194,462 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01477,805,137 - 77,810,147 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1477,805,130 - 77,810,147 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01477,783,865 - 77,788,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41478,349,878 - 78,354,888 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1472,016,197 - 72,021,228 (-)NCBICelera
Cytogenetic Map14q21NCBI
Cytl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555144,826,755 - 4,831,951 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555144,826,792 - 4,831,424 (+)NCBIChiLan1.0ChiLan1.0
CYTL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v235,280,955 - 5,286,058 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan145,214,116 - 5,219,213 (-)NCBINHGRI_mPanPan1
PanPan1.145,092,567 - 5,097,456 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl45,092,144 - 5,098,092 (-)Ensemblpanpan1.1panPan2
CYTL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1370,354,099 - 70,358,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl370,354,090 - 70,359,128 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,904,811 - 72,909,240 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0371,113,282 - 71,117,712 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl371,113,283 - 71,117,907 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1370,384,321 - 70,388,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0370,544,734 - 70,549,165 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0370,929,545 - 70,933,976 (-)NCBIUU_Cfam_GSD_1.0
Cytl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528563,807,132 - 63,813,091 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647717,508,823 - 17,512,663 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647717,508,833 - 17,512,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYTL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl85,455,671 - 5,460,861 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.185,455,576 - 5,460,861 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.285,266,914 - 5,272,133 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYTL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12741,187,925 - 41,192,768 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2741,187,828 - 41,192,690 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604787,982,211 - 87,987,014 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cytl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475521,968,570 - 21,973,397 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475521,968,360 - 21,972,986 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYTL1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.2(chr4:4810396-5212384)x3 copy number gain See cases [RCV000050708] Chr4:4810396..5212384 [GRCh38]
Chr4:4812123..5214111 [GRCh37]
Chr4:4863024..5265012 [NCBI36]
Chr4:4p16.2		 uncertain significance
GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3 copy number gain See cases [RCV000051565] Chr4:4207414..5514441 [GRCh38]
Chr4:4209141..5516168 [GRCh37]
Chr4:4260042..5567069 [NCBI36]
Chr4:4p16.3-16.2		 uncertain significance
GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3 copy number gain See cases [RCV000051566] Chr4:4791822..5811236 [GRCh38]
Chr4:4793549..5812963 [GRCh37]
Chr4:4844450..5863864 [NCBI36]
Chr4:4p16.2		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_018659.2(CYTL1):c.339C>T (p.Phe113=) single nucleotide variant Malignant melanoma [RCV000061007] Chr4:5015223 [GRCh38]
Chr4:5016950 [GRCh37]
Chr4:5067851 [NCBI36]
Chr4:4p16.2		 not provided
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.2(chr4:4978146-5455904)x1 copy number loss See cases [RCV000138741] Chr4:4978146..5455904 [GRCh38]
Chr4:4979873..5457631 [GRCh37]
Chr4:5030774..5508532 [NCBI36]
Chr4:4p16.2		 likely benign
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 copy number loss See cases [RCV000239959] Chr4:3776784..7361544 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NC_000004.11:g.(?_4861627)_(6304195_?)del deletion Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003107680] Chr4:4861627..6304195 [GRCh37]
Chr4:4p16.2-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
NM_018659.3(CYTL1):c.142T>C (p.Ser48Pro) single nucleotide variant not specified [RCV004608655] Chr4:5019304 [GRCh38]
Chr4:5021031 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.53C>G (p.Pro18Arg) single nucleotide variant not specified [RCV004608654] Chr4:5019393 [GRCh38]
Chr4:5021120 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.2(chr4:4955519-5440181)x3 copy number gain not provided [RCV001258628] Chr4:4955519..5440181 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.2-16.1(chr4:4896232-6366623)x1 copy number loss not provided [RCV001258629] Chr4:4896232..6366623 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_4861627)_(6304195_?)dup duplication not provided [RCV001918830] Chr4:4861627..6304195 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1		 likely pathogenic
NM_018659.3(CYTL1):c.279G>C (p.Lys93Asn) single nucleotide variant not specified [RCV004608653] Chr4:5016884 [GRCh38]
Chr4:5018611 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_018659.3(CYTL1):c.395C>G (p.Pro132Arg) single nucleotide variant not specified [RCV004323170] Chr4:5015167 [GRCh38]
Chr4:5016894 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.2(chr4:4955520-5440181)x3 copy number gain not provided [RCV002474855] Chr4:4955520..5440181 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.407G>A (p.Arg136His) single nucleotide variant not specified [RCV004189849] Chr4:5015155 [GRCh38]
Chr4:5016882 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.400C>G (p.Arg134Gly) single nucleotide variant not specified [RCV004117136] Chr4:5015162 [GRCh38]
Chr4:5016889 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.245C>T (p.Pro82Leu) single nucleotide variant not specified [RCV004198093] Chr4:5016918 [GRCh38]
Chr4:5018645 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.331T>G (p.Leu111Val) single nucleotide variant not specified [RCV004124220] Chr4:5015231 [GRCh38]
Chr4:5016958 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.230T>C (p.Phe77Ser) single nucleotide variant not specified [RCV004069454] Chr4:5016933 [GRCh38]
Chr4:5018660 [GRCh37]
Chr4:4p16.2		 uncertain significance
NM_018659.3(CYTL1):c.145G>C (p.Glu49Gln) single nucleotide variant not specified [RCV004163586] Chr4:5019301 [GRCh38]
Chr4:5021028 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_018659.3(CYTL1):c.401G>A (p.Arg134His) single nucleotide variant not specified [RCV004361082] Chr4:5015161 [GRCh38]
Chr4:5016888 [GRCh37]
Chr4:4p16.2		 likely benign
GRCh37/hg19 4p16.2(chr4:4905056-5064194)x1 copy number loss not provided [RCV003485409] Chr4:4905056..5064194 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_018659.3(CYTL1):c.386C>T (p.Thr129Met) single nucleotide variant not specified [RCV004370675] Chr4:5015176 [GRCh38]
Chr4:5016903 [GRCh37]
Chr4:4p16.2		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_018659.3(CYTL1):c.265G>A (p.Val89Ile) single nucleotide variant not specified [RCV004370674] Chr4:5016898 [GRCh38]
Chr4:5018625 [GRCh37]
Chr4:4p16.2		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:442
Count of miRNA genes:249
Interacting mature miRNAs:258
Transcripts:ENST00000307746, ENST00000506508, ENST00000509419
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
407334023GWAS982999_HBMI-adjusted waist circumference QTL GWAS982999 (human)1e-08BMI-adjusted waist circumference450182055018206Human
407005792GWAS654768_Hbody height QTL GWAS654768 (human)2e-28body height (VT:0001253)body height (CMO:0000106)450151565015157Human
407016512GWAS665488_Hbody height QTL GWAS665488 (human)6e-11body height (VT:0001253)body height (CMO:0000106)450169755016976Human
406921797GWAS570773_HBMI-adjusted waist-hip ratio QTL GWAS570773 (human)4e-11BMI-adjusted waist-hip ratio450151565015157Human
407100709GWAS749685_Hvital capacity QTL GWAS749685 (human)1e-11BMI-adjusted waist circumference450182055018206Human
407351937GWAS1000913_HBMI-adjusted waist-hip ratio QTL GWAS1000913 (human)5e-11BMI-adjusted waist-hip ratio450182055018206Human
407351936GWAS1000912_HBMI-adjusted waist-hip ratio QTL GWAS1000912 (human)8e-11BMI-adjusted waist-hip ratio450151565015157Human
406998602GWAS647578_Hbody mass index QTL GWAS647578 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)450151565015157Human
407163886GWAS812862_Hpeak expiratory flow QTL GWAS812862 (human)2e-33peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)450151565015157Human
407094638GWAS743614_HBMI-adjusted waist-hip ratio QTL GWAS743614 (human)1e-11BMI-adjusted waist-hip ratio450151565015157Human
407204234GWAS853210_Hblood protein measurement QTL GWAS853210 (human)2e-36blood protein measurementblood protein measurement (CMO:0000028)450151565015157Human
406992147GWAS641123_Hprotein measurement QTL GWAS641123 (human)5e-29protein measurement450151565015157Human
407359094GWAS1008070_HBMI-adjusted waist circumference QTL GWAS1008070 (human)9e-15BMI-adjusted waist circumference450151565015157Human
407312565GWAS961541_Hbody height QTL GWAS961541 (human)3e-17body height (VT:0001253)body height (CMO:0000106)450151565015157Human
407322516GWAS971492_HBMI-adjusted waist-hip ratio QTL GWAS971492 (human)4e-10BMI-adjusted waist-hip ratio450182055018206Human
406992148GWAS641124_Hprotein measurement QTL GWAS641124 (human)1e-50protein measurement450183655018366Human
407163644GWAS812620_Hpeak expiratory flow QTL GWAS812620 (human)1e-37peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)450194225019423Human
406998712GWAS647688_HBMI-adjusted waist circumference QTL GWAS647688 (human)4e-18BMI-adjusted waist circumference450151565015157Human
407313500GWAS962476_HBMI-adjusted waist circumference QTL GWAS962476 (human)3e-10BMI-adjusted waist circumference450151565015157Human
407324572GWAS973548_HBMI-adjusted waist-hip ratio QTL GWAS973548 (human)2e-09BMI-adjusted waist-hip ratio450151565015157Human

Markers in Region
SHGC-33462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3745,016,328 - 5,016,464UniSTSGRCh37
Build 3645,067,229 - 5,067,365RGDNCBI36
Celera44,913,540 - 4,913,676RGD
Cytogenetic Map4p16-p15UniSTS
HuRef44,952,743 - 4,952,879UniSTS
TNG Radiation Hybrid Map42947.0UniSTS
GeneMap99-G3 RH Map4322.0UniSTS


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
visual system
1204 2326 2673 2205 4912 1631 2116 3 544 1440 383 2254 6469 5927 46 3688 815 1661 1463 168 1

Sequence


Ensembl Acc Id: ENST00000307746   ⟹   ENSP00000303550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl45,014,586 - 5,019,458 (-)Ensembl
Ensembl Acc Id: ENST00000506508   ⟹   ENSP00000425397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl45,014,827 - 5,019,437 (-)Ensembl
Ensembl Acc Id: ENST00000509419   ⟹   ENSP00000421743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl45,015,144 - 5,019,441 (-)Ensembl
RefSeq Acc Id: NM_018659   ⟹   NP_061129
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3845,014,586 - 5,019,458 (-)NCBI
GRCh3745,016,313 - 5,021,197 (-)RGD
Build 3645,067,214 - 5,072,098 (-)NCBI Archive
Celera44,913,525 - 4,918,414 (-)RGD
HuRef44,952,728 - 4,957,617 (-)RGD
CHM1_145,014,307 - 5,019,195 (-)NCBI
T2T-CHM13v2.044,984,228 - 4,989,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008299   ⟹   XP_016863788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3845,014,586 - 5,019,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054350197   ⟹   XP_054206172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.044,984,228 - 4,989,105 (-)NCBI
RefSeq Acc Id: NP_061129   ⟸   NM_018659
- Peptide Label: precursor
- UniProtKB: Q9NRR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863788   ⟸   XM_017008299
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000303550   ⟸   ENST00000307746
Ensembl Acc Id: ENSP00000425397   ⟸   ENST00000506508
Ensembl Acc Id: ENSP00000421743   ⟸   ENST00000509419
RefSeq Acc Id: XP_054206172   ⟸   XM_054350197
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRR1-F1-model_v2 AlphaFold Q9NRR1 1-136 view protein structure

Promoters
RGD ID:6866952
Promoter ID:EPDNEW_H6641
Type:initiation region
Name:CYTL1_1
Description:cytokine like 1
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
GRCh3845,019,458 - 5,019,518EPDNEW
RGD ID:6802154
Promoter ID:HG_KWN:47772
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000382715,   OTTHUMT00000246802
Position:
Human AssemblyChrPosition (strand)Source
Build 3645,071,861 - 5,072,361 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24435 AgrOrtholog
COSMIC CYTL1 COSMIC
Ensembl Genes ENSG00000170891 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307746 ENTREZGENE
  ENST00000307746.9 UniProtKB/Swiss-Prot
  ENST00000506508.1 UniProtKB/TrEMBL
  ENST00000509419.1 UniProtKB/TrEMBL
GTEx ENSG00000170891 GTEx
HGNC ID HGNC:24435 ENTREZGENE
Human Proteome Map CYTL1 Human Proteome Map
InterPro CYTL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54360 UniProtKB/Swiss-Prot
NCBI Gene 54360 ENTREZGENE
OMIM 607930 OMIM
PANTHER CYTOKINE-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15974 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CYTL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134978681 PharmGKB
UniProt CYTL1_HUMAN UniProtKB/Swiss-Prot
  H0Y8Q4_HUMAN UniProtKB/TrEMBL
  H0Y9X7_HUMAN UniProtKB/TrEMBL
  Q9NRR1 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 CYTL1  cytokine like 1  CYTL1  cytokine-like 1  Symbol and/or name change 5135510 APPROVED