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
Description: Predicted to have signaling receptor binding activity. Predicted to be involved in signal transduction. Predicted to localize to extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl45,014,586 - 5,019,458 (-)EnsemblGRCh38hg38GRCh38
GRCh3845,014,586 - 5,019,470 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3745,016,313 - 5,021,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3645,067,214 - 5,072,098 (-)NCBINCBI36hg18NCBI36
Build 3445,134,387 - 5,139,269NCBI
Celera44,913,525 - 4,918,414 (-)NCBI
Cytogenetic Map4p16.2NCBI
HuRef44,952,728 - 4,957,617 (-)NCBIHuRef
CHM1_145,014,307 - 5,019,195 (-)NCBICHM1_1
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

Additional References at PubMed
PMID:10857752   PMID:12975309   PMID:15340161   PMID:15489334   PMID:21322034   PMID:21503106   PMID:21799806   PMID:22011669   PMID:22613542   PMID:22797702   PMID:26800213   PMID:26922322  
PMID:27084102   PMID:28478073   PMID:30582450   PMID:30718470   PMID:31089746   PMID:32736681  


Genomics

Comparative Map Data
CYTL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl45,014,586 - 5,019,458 (-)EnsemblGRCh38hg38GRCh38
GRCh3845,014,586 - 5,019,470 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3745,016,313 - 5,021,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3645,067,214 - 5,072,098 (-)NCBINCBI36hg18NCBI36
Build 3445,134,387 - 5,139,269NCBI
Celera44,913,525 - 4,918,414 (-)NCBI
Cytogenetic Map4p16.2NCBI
HuRef44,952,728 - 4,957,617 (-)NCBIHuRef
CHM1_145,014,307 - 5,019,195 (-)NCBICHM1_1
Cytl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39537,892,863 - 37,897,164 (+)NCBIGRCm39mm39
GRCm39 Ensembl537,892,863 - 37,897,164 (+)Ensembl
GRCm38537,735,519 - 37,739,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl537,735,519 - 37,739,820 (+)EnsemblGRCm38mm10GRCm38
MGSCv37538,126,758 - 38,131,059 (+)NCBIGRCm37mm9NCBIm37
MGSCv36538,023,768 - 38,028,069 (+)NCBImm8
Celera535,191,397 - 35,195,691 (+)NCBICelera
Cytogenetic Map5B3NCBI
Cytl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21473,053,876 - 73,058,886 (-)NCBI
Rnor_6.0 Ensembl1477,805,130 - 77,810,147 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01477,805,137 - 77,810,147 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01477,783,865 - 77,788,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41478,349,878 - 78,354,888 (-)NCBIRGSC3.4rn4RGSC3.4
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
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 (-)NCBI
ROS_Cfam_1.0371,113,282 - 71,117,712 (-)NCBI
UMICH_Zoey_3.1370,384,321 - 70,388,747 (-)NCBI
UNSW_CanFamBas_1.0370,544,734 - 70,549,165 (-)NCBI
UU_Cfam_GSD_1.0370,929,545 - 70,933,976 (-)NCBI
Cytl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528563,807,132 - 63,813,091 (-)NCBI
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 - 5,460,866 (+)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 (-)NCBI
ChlSab1.1 Ensembl2741,187,828 - 41,192,690 (-)Ensembl
Vero_WHO_p1.0NW_02366604787,982,211 - 87,987,014 (-)NCBI
Cytl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475521,968,360 - 21,972,986 (-)NCBI

Position Markers
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

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.


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
High 27 1 1
Medium 336 991 289 39 73 14 1143 131 416 60 454 352 27 295 702 1
Low 1948 1255 980 245 1034 109 2492 990 2787 255 721 1050 138 1 902 1394 1
Below cutoff 42 676 362 260 333 260 592 926 484 72 209 56 3 7 577 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000307746   ⟹   ENSP00000303550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl45,014,586 - 5,019,458 (-)Ensembl
RefSeq Acc Id: ENST00000506508   ⟹   ENSP00000425397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl45,014,827 - 5,019,437 (-)Ensembl
RefSeq Acc Id: ENST00000509419   ⟹   ENSP00000421743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
Sequence:
RefSeq Acc Id: XM_017008299   ⟹   XP_016863788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3845,014,586 - 5,019,470 (-)NCBI
Sequence:
Reference Sequences
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:
RefSeq Acc Id: ENSP00000303550   ⟸   ENST00000307746
RefSeq Acc Id: ENSP00000425397   ⟸   ENST00000506508
RefSeq Acc Id: ENSP00000421743   ⟸   ENST00000509419

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

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 See cases [RCV000449078] 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
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 4p16.3-16.1(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 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
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

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 Protein ENSP00000303550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421743 UniProtKB/TrEMBL
  ENSP00000425397 UniProtKB/TrEMBL
Ensembl Transcript ENST00000307746 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506508 UniProtKB/TrEMBL
  ENST00000509419 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 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    cytokine-like 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 CYTL1  cytokine-like 1  CYTL1  cytokine-like 1  Symbol and/or name change 5135510 APPROVED