CCDC14 (coiled-coil domain containing 14) - Rat Genome Database

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Gene: CCDC14 (coiled-coil domain containing 14) Homo sapiens
Analyze
Symbol: CCDC14
Name: coiled-coil domain containing 14
RGD ID: 1348740
HGNC Page HGNC:25766
Description: Involved in protein localization to centrosome. Located in centriolar satellite.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: coiled-coil domain-containing protein 14; DKFZp434L1050; FLJ12892; FLJ41065
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
GRCh383123,885,176 - 123,961,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,897,305 - 123,961,408 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,632,269 - 123,680,076 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363125,115,257 - 125,158,620 (-)NCBINCBI36Build 36hg18NCBI36
Build 343125,115,257 - 125,158,620NCBI
Celera3122,039,702 - 122,087,793 (-)NCBICelera
Cytogenetic Map3q21.1NCBI
HuRef3121,005,827 - 121,054,097 (-)NCBIHuRef
CHM1_13123,595,278 - 123,643,264 (-)NCBICHM1_1
T2T-CHM13v2.03126,611,315 - 126,687,354 (-)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

Biological Process

Cellular Component
centriolar satellite  (IBA,IDA,IEA)
centrosome  (IDA)
cytoplasm  (IEA)
cytoskeleton  (IEA)

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:14702039   PMID:15146197   PMID:15342556   PMID:15840729   PMID:16189514   PMID:16344560   PMID:16713569   PMID:17043677   PMID:19322201   PMID:19615732   PMID:20936779   PMID:21399614  
PMID:21832049   PMID:21873635   PMID:21988832   PMID:22926577   PMID:23455924   PMID:24613305   PMID:24726327   PMID:25281560   PMID:25416956   PMID:25814554   PMID:26186194   PMID:26297806  
PMID:26496610   PMID:26638075   PMID:27880917   PMID:28514442   PMID:28718761   PMID:29395067   PMID:29892012   PMID:30021884   PMID:30561431   PMID:31462741   PMID:32296183   PMID:32513696  
PMID:32814053   PMID:32908313   PMID:33961781   PMID:34011540   PMID:34079125   PMID:36543142   PMID:36594163   PMID:36674791   PMID:36949045   PMID:37071682   PMID:37689310  


Genomics

Comparative Map Data
CCDC14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383123,885,176 - 123,961,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,897,305 - 123,961,408 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,632,269 - 123,680,076 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363125,115,257 - 125,158,620 (-)NCBINCBI36Build 36hg18NCBI36
Build 343125,115,257 - 125,158,620NCBI
Celera3122,039,702 - 122,087,793 (-)NCBICelera
Cytogenetic Map3q21.1NCBI
HuRef3121,005,827 - 121,054,097 (-)NCBIHuRef
CHM1_13123,595,278 - 123,643,264 (-)NCBICHM1_1
T2T-CHM13v2.03126,611,315 - 126,687,354 (-)NCBIT2T-CHM13v2.0
Ccdc14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391634,510,940 - 34,545,574 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1634,510,986 - 34,545,572 (+)EnsemblGRCm39 Ensembl
GRCm381634,690,557 - 34,725,204 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1634,690,616 - 34,725,202 (+)EnsemblGRCm38mm10GRCm38
MGSCv371634,690,702 - 34,725,280 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361634,610,457 - 34,631,163 (+)NCBIMGSCv36mm8
Celera1635,157,616 - 35,192,194 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1624.46NCBI
Ccdc14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81179,557,267 - 79,593,128 (-)NCBIGRCr8
mRatBN7.21166,052,063 - 66,087,915 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1166,052,620 - 66,087,956 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01169,281,000 - 69,316,897 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1169,281,554 - 69,316,848 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01172,371,494 - 72,407,318 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41167,872,420 - 67,905,568 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1165,506,401 - 65,542,295 (-)NCBICelera
Cytogenetic Map11q22NCBI
Ccdc14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542723,042,648 - 23,095,151 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542723,043,001 - 23,095,201 (-)NCBIChiLan1.0ChiLan1.0
CCDC14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22121,875,431 - 121,923,161 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13121,880,207 - 121,927,911 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03121,018,879 - 121,066,563 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13127,918,294 - 127,965,906 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3127,918,294 - 127,965,906 (-)Ensemblpanpan1.1panPan2
CCDC14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13326,958,752 - 27,009,159 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3326,959,430 - 27,009,436 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3326,980,339 - 27,031,888 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03327,192,107 - 27,243,694 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3327,191,567 - 27,243,799 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13326,988,028 - 27,039,513 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03327,032,247 - 27,083,826 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03327,644,852 - 27,701,025 (-)NCBIUU_Cfam_GSD_1.0
Ccdc14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602127,365,499 - 127,426,632 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367251,273,946 - 1,331,109 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367251,273,984 - 1,331,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13136,438,967 - 136,486,496 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113136,439,015 - 136,502,604 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213145,971,225 - 146,005,171 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12256,889,424 - 56,939,915 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041109,404,098 - 109,459,149 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249122,269,829 - 2,317,154 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249122,270,467 - 2,316,998 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC14
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2		 pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2		 pathogenic
NM_022757.4(CCDC14):c.2372C>T (p.Ser791Phe) single nucleotide variant Malignant melanoma [RCV000065808] Chr3:123915146 [GRCh38]
Chr3:123633993 [GRCh37]
Chr3:125116683 [NCBI36]
Chr3:3q21.1		 not provided
NC_000003.12:g.123897583C>A single nucleotide variant Lung cancer [RCV000092874] Chr3:123897583 [GRCh38]
Chr3:123616430 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.1(chr3:123399650-124045857)x3 copy number gain See cases [RCV000139358] Chr3:123399650..124045857 [GRCh38]
Chr3:123118497..123764704 [GRCh37]
Chr3:124601187..125247394 [NCBI36]
Chr3:3q21.1		 pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 copy number loss See cases [RCV000140814] Chr3:121925147..126782249 [GRCh38]
Chr3:121643994..126501092 [GRCh37]
Chr3:123126684..127983782 [NCBI36]
Chr3:3q13.33-21.3		 pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3		 pathogenic
GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1 copy number loss See cases [RCV000143629] Chr3:123844472..123900064 [GRCh38]
Chr3:123563319..123618911 [GRCh37]
Chr3:125046009..125101601 [NCBI36]
Chr3:3q21.1		 likely pathogenic
GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1 copy number loss See cases [RCV000447030] Chr3:123477546..123688038 [GRCh37]
Chr3:3q21.1		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366335.1(CCDC14):c.101A>G (p.Lys34Arg) single nucleotide variant not specified [RCV004331688] Chr3:123956413 [GRCh38]
Chr3:123675260 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 copy number loss not provided [RCV000682303] Chr3:122698091..125036994 [GRCh37]
Chr3:3q21.1-21.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q21.1(chr3:123674337-123702716)x3 copy number gain not provided [RCV000742727] Chr3:123674337..123702716 [GRCh37]
Chr3:3q21.1		 benign
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1		 uncertain significance
NM_001366335.1(CCDC14):c.-30T>C single nucleotide variant not specified [RCV004301785] Chr3:123961203 [GRCh38]
Chr3:123680050 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1 copy number loss not provided [RCV001005466] Chr3:122981355..123768908 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3 copy number gain not provided [RCV001259229] Chr3:123442360..123837654 [GRCh37]
Chr3:3q21.1-21.2		 uncertain significance
NM_001366335.1(CCDC14):c.1549G>A (p.Glu517Lys) single nucleotide variant not specified [RCV004609823] Chr3:123931404 [GRCh38]
Chr3:123650251 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.187T>A (p.Cys63Ser) single nucleotide variant not specified [RCV004609824] Chr3:123956088 [GRCh38]
Chr3:123674935 [GRCh37]
Chr3:3q21.1		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3		 pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1 copy number loss not provided [RCV001827926] Chr3:123426881..124387174 [GRCh37]
Chr3:3q21.1-21.2		 pathogenic
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NC_000003.11:g.(?_121489192)_(125313644_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111142] Chr3:121489192..125313644 [GRCh37]
Chr3:3q13.33-21.2		 uncertain significance
NC_000003.11:g.(?_123003455)_(125313644_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV003122995] Chr3:123003455..125313644 [GRCh37]
Chr3:3q21.1-21.2		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_001366335.1(CCDC14):c.1081G>A (p.Val361Met) single nucleotide variant not specified [RCV004222073] Chr3:123946923 [GRCh38]
Chr3:123665770 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.935C>G (p.Ser312Cys) single nucleotide variant not specified [RCV004117169] Chr3:123947069 [GRCh38]
Chr3:123665916 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.46G>A (p.Gly16Ser) single nucleotide variant not specified [RCV004205142] Chr3:123961272 [GRCh38]
Chr3:123680119 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.398G>T (p.Arg133Ile) single nucleotide variant not specified [RCV004108572] Chr3:123949087 [GRCh38]
Chr3:123667934 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2338C>T (p.Pro780Ser) single nucleotide variant not specified [RCV004219910] Chr3:123915159 [GRCh38]
Chr3:123634006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1921T>C (p.Ser641Pro) single nucleotide variant not specified [RCV004170525] Chr3:123915576 [GRCh38]
Chr3:123634423 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2480A>T (p.Glu827Val) single nucleotide variant not specified [RCV004210147] Chr3:123915017 [GRCh38]
Chr3:123633864 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2354C>T (p.Ser785Phe) single nucleotide variant not specified [RCV004192453] Chr3:123915143 [GRCh38]
Chr3:123633990 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2035G>A (p.Val679Ile) single nucleotide variant not specified [RCV004135073] Chr3:123915462 [GRCh38]
Chr3:123634309 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1113G>C (p.Gln371His) single nucleotide variant not specified [RCV004120702] Chr3:123946891 [GRCh38]
Chr3:123665738 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1835G>A (p.Arg612His) single nucleotide variant not specified [RCV004204870] Chr3:123915662 [GRCh38]
Chr3:123634509 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.35T>C (p.Leu12Ser) single nucleotide variant not specified [RCV004225671] Chr3:123956791 [GRCh38]
Chr3:123675638 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2098G>A (p.Gly700Arg) single nucleotide variant not specified [RCV004148063] Chr3:123915399 [GRCh38]
Chr3:123634246 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2413G>A (p.Asp805Asn) single nucleotide variant not specified [RCV004223731] Chr3:123915084 [GRCh38]
Chr3:123633931 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2616C>G (p.Phe872Leu) single nucleotide variant not specified [RCV004121984] Chr3:123914881 [GRCh38]
Chr3:123633728 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1010C>G (p.Thr337Ser) single nucleotide variant not specified [RCV004089440] Chr3:123946994 [GRCh38]
Chr3:123665841 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1834C>T (p.Arg612Cys) single nucleotide variant not specified [RCV004091402] Chr3:123915663 [GRCh38]
Chr3:123634510 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1736G>A (p.Arg579His) single nucleotide variant not specified [RCV004216878] Chr3:123931144 [GRCh38]
Chr3:123649991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1890A>T (p.Gln630His) single nucleotide variant not specified [RCV004284712] Chr3:123915607 [GRCh38]
Chr3:123634454 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.435G>C (p.Trp145Cys) single nucleotide variant not specified [RCV004249686] Chr3:123949050 [GRCh38]
Chr3:123667897 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.169G>T (p.Val57Leu) single nucleotide variant not specified [RCV004272340] Chr3:123956106 [GRCh38]
Chr3:123674953 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.950C>T (p.Thr317Met) single nucleotide variant not specified [RCV004255247] Chr3:123947054 [GRCh38]
Chr3:123665901 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.506A>G (p.Gln169Arg) single nucleotide variant not specified [RCV004277874] Chr3:123948979 [GRCh38]
Chr3:123667826 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.116A>G (p.Asn39Ser) single nucleotide variant not specified [RCV004268546] Chr3:123956398 [GRCh38]
Chr3:123675245 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.200T>C (p.Leu67Pro) single nucleotide variant not specified [RCV004254059] Chr3:123956075 [GRCh38]
Chr3:123674922 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.448C>G (p.His150Asp) single nucleotide variant not specified [RCV004269289] Chr3:123949037 [GRCh38]
Chr3:123667884 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.151G>A (p.Glu51Lys) single nucleotide variant not specified [RCV004329234] Chr3:123956363 [GRCh38]
Chr3:123675210 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_001366335.1(CCDC14):c.2525G>C (p.Ser842Thr) single nucleotide variant not specified [RCV004344563] Chr3:123914972 [GRCh38]
Chr3:123633819 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.495C>A (p.His165Gln) single nucleotide variant not specified [RCV004361407] Chr3:123948990 [GRCh38]
Chr3:123667837 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.917A>G (p.Tyr306Cys) single nucleotide variant not specified [RCV004345577] Chr3:123947087 [GRCh38]
Chr3:123665934 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2209A>G (p.Ser737Gly) single nucleotide variant not specified [RCV004344562] Chr3:123915288 [GRCh38]
Chr3:123634135 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.512C>T (p.Ser171Leu) single nucleotide variant not specified [RCV004432778] Chr3:123948973 [GRCh38]
Chr3:123667820 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1532T>C (p.Ile511Thr) single nucleotide variant not specified [RCV004432771] Chr3:123931421 [GRCh38]
Chr3:123650268 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.-33C>T single nucleotide variant not specified [RCV004432770] Chr3:123961206 [GRCh38]
Chr3:123680053 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1682A>G (p.Gln561Arg) single nucleotide variant not specified [RCV004432773] Chr3:123931198 [GRCh38]
Chr3:123650045 [GRCh37]
Chr3:3q21.1		 likely benign
NM_001366335.1(CCDC14):c.48G>C (p.Arg16Ser) single nucleotide variant not specified [RCV004432774] Chr3:123956778 [GRCh38]
Chr3:123675625 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.361G>T (p.Asp121Tyr) single nucleotide variant not specified [RCV004432776] Chr3:123949124 [GRCh38]
Chr3:123667971 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1623T>G (p.Ile541Met) single nucleotide variant not specified [RCV004432772] Chr3:123931330 [GRCh38]
Chr3:123650177 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.23A>G (p.Asp8Gly) single nucleotide variant not specified [RCV004432775] Chr3:123961295 [GRCh38]
Chr3:123680142 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.82G>T (p.Val28Phe) single nucleotide variant not specified [RCV004432779] Chr3:123961236 [GRCh38]
Chr3:123680083 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.11:g.(?_123512504)_(123634585_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV004582199] Chr3:123512504..123634585 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.2067C>A (p.Asn689Lys) single nucleotide variant not specified [RCV004602869] Chr3:123915430 [GRCh38]
Chr3:123634277 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.742A>C (p.Thr248Pro) single nucleotide variant not specified [RCV004602871] Chr3:123947262 [GRCh38]
Chr3:123666109 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1736G>T (p.Arg579Leu) single nucleotide variant not specified [RCV004602872] Chr3:123931144 [GRCh38]
Chr3:123649991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.49G>A (p.Gly17Arg) single nucleotide variant not specified [RCV004602863] Chr3:123961269 [GRCh38]
Chr3:123680116 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.88T>G (p.Ser30Ala) single nucleotide variant not specified [RCV004602865] Chr3:123961230 [GRCh38]
Chr3:123680077 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.87T>G (p.Asn29Lys) single nucleotide variant not specified [RCV004609822] Chr3:123961231 [GRCh38]
Chr3:123680078 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.-20C>T single nucleotide variant not specified [RCV004602864] Chr3:123961193 [GRCh38]
Chr3:123680040 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.23C>T (p.Pro8Leu) single nucleotide variant not specified [RCV004602870] Chr3:123961151 [GRCh38]
Chr3:123679998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.1112A>G (p.Gln371Arg) single nucleotide variant not specified [RCV004602868] Chr3:123946892 [GRCh38]
Chr3:123665739 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_001366335.1(CCDC14):c.378A>G (p.Ile126Met) single nucleotide variant not specified [RCV004609821] Chr3:123949107 [GRCh38]
Chr3:123667954 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_022757.4(CCDC14):c.7C>T (p.Arg3Cys) single nucleotide variant not specified [RCV004602867] Chr3:123961311 [GRCh38]
Chr3:123680158 [GRCh37]
Chr3:3q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4440
Count of miRNA genes:1104
Interacting mature miRNAs:1338
Transcripts:ENST00000310351, ENST00000409657, ENST00000409697, ENST00000417438, ENST00000419247, ENST00000426152, ENST00000433542, ENST00000434954, ENST00000435910, ENST00000438440, ENST00000463996, ENST00000471054, ENST00000477268, ENST00000478956, ENST00000479903, ENST00000483247, ENST00000485727, ENST00000485949, ENST00000487498, ENST00000488653, ENST00000489746, ENST00000495381
Prediction methods:Microtar, 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
406999507GWAS648483_Hintelligence QTL GWAS648483 (human)6e-08intelligence3123955490123955491Human
407099302GWAS748278_Hintelligence QTL GWAS748278 (human)2e-08intelligence3123935062123935063Human
407248675GWAS897651_Hcomplement factor H-related protein 3 measurement QTL GWAS897651 (human)0.0000006complement factor H-related protein 3 measurement3123918335123918336Human
407001102GWAS650078_Hresponse to fluoroquinolones, drug-induced liver injury QTL GWAS650078 (human)0.0000002response to fluoroquinolones, drug-induced liver injury3123918335123918336Human
406995068GWAS644044_Hintelligence QTL GWAS644044 (human)4e-08intelligence3123891496123891497Human

Markers in Region
D3S3519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,635,207 - 123,635,411UniSTSGRCh37
Build 363125,117,897 - 125,118,101RGDNCBI36
Celera3122,042,640 - 122,042,848RGD
Cytogenetic Map3q21.1UniSTS
HuRef3121,008,766 - 121,008,974UniSTS
Marshfield Genetic Map3139.24UniSTS
Marshfield Genetic Map3139.24RGD
Genethon Genetic Map3142.2UniSTS
TNG Radiation Hybrid Map370964.0UniSTS
deCODE Assembly Map3130.85UniSTS
Stanford-G3 RH Map35602.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31065.2UniSTS
GeneMap99-G3 RH Map36072.0UniSTS
A006P02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,632,636 - 123,632,774UniSTSGRCh37
Build 363125,115,326 - 125,115,464RGDNCBI36
Celera3122,040,069 - 122,040,207RGD
Cytogenetic Map3q21.1UniSTS
HuRef3121,006,194 - 121,006,332UniSTS
GeneMap99-GB4 RH Map3440.41UniSTS
NCBI RH Map31060.8UniSTS
SHGC-77280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,632,583 - 123,632,732UniSTSGRCh37
Build 363125,115,273 - 125,115,422RGDNCBI36
Celera3122,040,016 - 122,040,165RGD
Cytogenetic Map3q21.1UniSTS
HuRef3121,006,141 - 121,006,290UniSTS
TNG Radiation Hybrid Map371001.0UniSTS
GeneMap99-GB4 RH Map3438.75UniSTS
Whitehead-RH Map3540.0UniSTS
NCBI RH Map31070.2UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA743688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI435151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX880070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG621278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP213762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP382977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN424790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA031063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB037501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB306263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310351   ⟹   ENSP00000312031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,914,319 - 123,961,229 (-)Ensembl
Ensembl Acc Id: ENST00000409657   ⟹   ENSP00000386481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,725 - 123,961,272 (-)Ensembl
Ensembl Acc Id: ENST00000409697   ⟹   ENSP00000386866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,422 - 123,961,229 (-)Ensembl
Ensembl Acc Id: ENST00000417438   ⟹   ENSP00000398148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,948,946 - 123,961,381 (-)Ensembl
Ensembl Acc Id: ENST00000419247   ⟹   ENSP00000400957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,915,199 - 123,949,313 (-)Ensembl
Ensembl Acc Id: ENST00000426152   ⟹   ENSP00000414655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,946,804 - 123,949,492 (-)Ensembl
Ensembl Acc Id: ENST00000433542   ⟹   ENSP00000395706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,914,319 - 123,961,378 (-)Ensembl
Ensembl Acc Id: ENST00000434954   ⟹   ENSP00000387962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,947,196 - 123,949,575 (-)Ensembl
Ensembl Acc Id: ENST00000435910   ⟹   ENSP00000407820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,947,013 - 123,961,225 (-)Ensembl
Ensembl Acc Id: ENST00000438440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,948,708 - 123,961,209 (-)Ensembl
Ensembl Acc Id: ENST00000463996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,897,305 - 123,961,208 (-)Ensembl
Ensembl Acc Id: ENST00000471054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,933,527 - 123,948,933 (-)Ensembl
Ensembl Acc Id: ENST00000477268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,947,301 - 123,961,381 (-)Ensembl
Ensembl Acc Id: ENST00000478956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,956,077 - 123,961,218 (-)Ensembl
Ensembl Acc Id: ENST00000479903   ⟹   ENSP00000420768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,897,511 - 123,946,892 (-)Ensembl
Ensembl Acc Id: ENST00000483247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,914,662 - 123,961,212 (-)Ensembl
Ensembl Acc Id: ENST00000485727   ⟹   ENSP00000418002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,717 - 123,957,083 (-)Ensembl
Ensembl Acc Id: ENST00000485949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,933,525 - 123,946,868 (-)Ensembl
Ensembl Acc Id: ENST00000487498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,930,772 - 123,931,459 (-)Ensembl
Ensembl Acc Id: ENST00000488653   ⟹   ENSP00000420180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,453 - 123,961,408 (-)Ensembl
Ensembl Acc Id: ENST00000489746   ⟹   ENSP00000418403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,727 - 123,958,900 (-)Ensembl
Ensembl Acc Id: ENST00000495381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,913,725 - 123,961,349 (-)Ensembl
RefSeq Acc Id: NM_001308317   ⟹   NP_001295246
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
CHM1_13123,595,278 - 123,643,264 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366335   ⟹   NP_001353264
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366336   ⟹   NP_001353265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366337   ⟹   NP_001353266
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366338   ⟹   NP_001353267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366339   ⟹   NP_001353268
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022757   ⟹   NP_073594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
GRCh373123,616,152 - 123,680,255 (-)NCBI
Build 363125,115,257 - 125,158,620 (-)NCBI Archive
Celera3122,039,702 - 122,087,793 (-)RGD
HuRef3121,005,827 - 121,054,097 (-)ENTREZGENE
CHM1_13123,595,278 - 123,643,264 (-)NCBI
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247711   ⟹   XP_005247768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
GRCh373123,616,152 - 123,680,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247713   ⟹   XP_005247770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
GRCh373123,616,152 - 123,680,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247715   ⟹   XP_005247772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,897,305 - 123,961,229 (-)NCBI
GRCh373123,616,152 - 123,680,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247716   ⟹   XP_005247773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
GRCh373123,616,152 - 123,680,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713731   ⟹   XP_006713794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713733   ⟹   XP_006713796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513081   ⟹   XP_011511383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,887,271 - 123,961,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448738   ⟹   XP_047304694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448739   ⟹   XP_047304695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448740   ⟹   XP_047304696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448741   ⟹   XP_047304697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448742   ⟹   XP_047304698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448743   ⟹   XP_047304699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448744   ⟹   XP_047304700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448745   ⟹   XP_047304701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448746   ⟹   XP_047304702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448747   ⟹   XP_047304703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448748   ⟹   XP_047304704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,897,305 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448749   ⟹   XP_047304705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448750   ⟹   XP_047304706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,913,422 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_047448751   ⟹   XP_047304707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,931,179 - 123,961,229 (-)NCBI
RefSeq Acc Id: XM_054347574   ⟹   XP_054203549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347575   ⟹   XP_054203550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347576   ⟹   XP_054203551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347577   ⟹   XP_054203552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347578   ⟹   XP_054203553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,259 (-)NCBI
RefSeq Acc Id: XM_054347579   ⟹   XP_054203554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347580   ⟹   XP_054203555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347581   ⟹   XP_054203556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347582   ⟹   XP_054203557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,259 (-)NCBI
RefSeq Acc Id: XM_054347583   ⟹   XP_054203558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,623,428 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347584   ⟹   XP_054203559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,613,403 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347585   ⟹   XP_054203560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,623,428 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347586   ⟹   XP_054203561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347587   ⟹   XP_054203562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347588   ⟹   XP_054203563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,259 (-)NCBI
RefSeq Acc Id: XM_054347589   ⟹   XP_054203564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,639,530 - 126,687,354 (-)NCBI
RefSeq Acc Id: XM_054347590   ⟹   XP_054203565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,657,295 - 126,687,354 (-)NCBI
RefSeq Acc Id: XR_007095720
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,885,176 - 123,961,229 (-)NCBI
RefSeq Acc Id: XR_008486777
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,611,315 - 126,687,259 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001295246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353268 (Get FASTA)   NCBI Sequence Viewer  
  NP_073594 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247768 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247770 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247772 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247773 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713794 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713796 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511383 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304694 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304695 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304696 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304697 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304698 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304699 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304700 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304701 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304702 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304703 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304704 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304705 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304706 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203562 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203563 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203564 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203565 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH20246 (Get FASTA)   NCBI Sequence Viewer  
  AAH40285 (Get FASTA)   NCBI Sequence Viewer  
  AAH42613 (Get FASTA)   NCBI Sequence Viewer  
  BAB14329 (Get FASTA)   NCBI Sequence Viewer  
  BAB55229 (Get FASTA)   NCBI Sequence Viewer  
  BAH11939 (Get FASTA)   NCBI Sequence Viewer  
  BAH11968 (Get FASTA)   NCBI Sequence Viewer  
  CAB59254 (Get FASTA)   NCBI Sequence Viewer  
  CAD91162 (Get FASTA)   NCBI Sequence Viewer  
  CAD97804 (Get FASTA)   NCBI Sequence Viewer  
  CAE90790 (Get FASTA)   NCBI Sequence Viewer  
  EAW79429 (Get FASTA)   NCBI Sequence Viewer  
  EAW79430 (Get FASTA)   NCBI Sequence Viewer  
  EAW79431 (Get FASTA)   NCBI Sequence Viewer  
  EAW79432 (Get FASTA)   NCBI Sequence Viewer  
  EAW79433 (Get FASTA)   NCBI Sequence Viewer  
  EAW79434 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312031.5
  ENSP00000386481.1
  ENSP00000386866
  ENSP00000386866.4
  ENSP00000387962.1
  ENSP00000395706.3
  ENSP00000398148.1
  ENSP00000400957.1
  ENSP00000407820.1
  ENSP00000414655.1
  ENSP00000418002.1
  ENSP00000418403
  ENSP00000418403.1
  ENSP00000420180
  ENSP00000420180.3
  ENSP00000420768.1
GenBank Protein Q49A88 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_073594   ⟸   NM_022757
- Peptide Label: isoform 1
- UniProtKB: Q9UFH0 (UniProtKB/Swiss-Prot),   Q9H9A3 (UniProtKB/Swiss-Prot),   Q96K47 (UniProtKB/Swiss-Prot),   Q8WUJ8 (UniProtKB/Swiss-Prot),   Q8IWF8 (UniProtKB/Swiss-Prot),   Q86T30 (UniProtKB/Swiss-Prot),   Q7Z3N3 (UniProtKB/Swiss-Prot),   Q49A88 (UniProtKB/Swiss-Prot),   D3DN98 (UniProtKB/Swiss-Prot),   B8ZZ58 (UniProtKB/Swiss-Prot),   B8ZZ41 (UniProtKB/Swiss-Prot),   B7Z2T2 (UniProtKB/Swiss-Prot),   B7Z2Q3 (UniProtKB/Swiss-Prot),   A0A0A0MR27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247772   ⟸   XM_005247715
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_005247770   ⟸   XM_005247713
- Peptide Label: isoform X11
- UniProtKB: Q49A88 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247768   ⟸   XM_005247711
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005247773   ⟸   XM_005247716
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_006713796   ⟸   XM_006713733
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_006713794   ⟸   XM_006713731
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511383   ⟸   XM_011513081
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001295246   ⟸   NM_001308317
- Peptide Label: isoform 2
- UniProtKB: Q49A88 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001353267   ⟸   NM_001366338
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001353265   ⟸   NM_001366336
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353266   ⟸   NM_001366337
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353268   ⟸   NM_001366339
- Peptide Label: isoform 5
- UniProtKB: Q9UFH0 (UniProtKB/Swiss-Prot),   Q9H9A3 (UniProtKB/Swiss-Prot),   Q96K47 (UniProtKB/Swiss-Prot),   Q8WUJ8 (UniProtKB/Swiss-Prot),   Q8IWF8 (UniProtKB/Swiss-Prot),   Q86T30 (UniProtKB/Swiss-Prot),   Q7Z3N3 (UniProtKB/Swiss-Prot),   Q49A88 (UniProtKB/Swiss-Prot),   D3DN98 (UniProtKB/Swiss-Prot),   B8ZZ58 (UniProtKB/Swiss-Prot),   B8ZZ41 (UniProtKB/Swiss-Prot),   B7Z2T2 (UniProtKB/Swiss-Prot),   B7Z2Q3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001353264   ⟸   NM_001366335
- Peptide Label: isoform 3
- UniProtKB: Q9UFH0 (UniProtKB/Swiss-Prot),   Q9H9A3 (UniProtKB/Swiss-Prot),   Q96K47 (UniProtKB/Swiss-Prot),   Q8WUJ8 (UniProtKB/Swiss-Prot),   Q8IWF8 (UniProtKB/Swiss-Prot),   Q86T30 (UniProtKB/Swiss-Prot),   Q7Z3N3 (UniProtKB/Swiss-Prot),   Q49A88 (UniProtKB/Swiss-Prot),   D3DN98 (UniProtKB/Swiss-Prot),   B8ZZ58 (UniProtKB/Swiss-Prot),   B8ZZ41 (UniProtKB/Swiss-Prot),   B7Z2T2 (UniProtKB/Swiss-Prot),   B7Z2Q3 (UniProtKB/Swiss-Prot),   J3QT39 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000414655   ⟸   ENST00000426152
Ensembl Acc Id: ENSP00000420768   ⟸   ENST00000479903
Ensembl Acc Id: ENSP00000398148   ⟸   ENST00000417438
Ensembl Acc Id: ENSP00000312031   ⟸   ENST00000310351
Ensembl Acc Id: ENSP00000400957   ⟸   ENST00000419247
Ensembl Acc Id: ENSP00000418002   ⟸   ENST00000485727
Ensembl Acc Id: ENSP00000395706   ⟸   ENST00000433542
Ensembl Acc Id: ENSP00000386866   ⟸   ENST00000409697
Ensembl Acc Id: ENSP00000386481   ⟸   ENST00000409657
Ensembl Acc Id: ENSP00000387962   ⟸   ENST00000434954
Ensembl Acc Id: ENSP00000420180   ⟸   ENST00000488653
Ensembl Acc Id: ENSP00000407820   ⟸   ENST00000435910
Ensembl Acc Id: ENSP00000418403   ⟸   ENST00000489746
RefSeq Acc Id: XP_047304704   ⟸   XM_047448748
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047304702   ⟸   XM_047448746
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304701   ⟸   XM_047448745
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304700   ⟸   XM_047448744
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304695   ⟸   XM_047448739
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304694   ⟸   XM_047448738
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047304703   ⟸   XM_047448747
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047304699   ⟸   XM_047448743
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304698   ⟸   XM_047448742
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304697   ⟸   XM_047448741
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304706   ⟸   XM_047448750
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047304705   ⟸   XM_047448749
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047304696   ⟸   XM_047448740
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304707   ⟸   XM_047448751
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054203559   ⟸   XM_054347584
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054203560   ⟸   XM_054347585
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054203558   ⟸   XM_054347583
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203562   ⟸   XM_054347587
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054203556   ⟸   XM_054347581
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203555   ⟸   XM_054347580
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203554   ⟸   XM_054347579
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203552   ⟸   XM_054347577
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203551   ⟸   XM_054347576
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203561   ⟸   XM_054347586
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054203550   ⟸   XM_054347575
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203564   ⟸   XM_054347589
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054203549   ⟸   XM_054347574
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203557   ⟸   XM_054347582
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203563   ⟸   XM_054347588
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054203553   ⟸   XM_054347578
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203565   ⟸   XM_054347590
- Peptide Label: isoform X15

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q49A88-F1-model_v2 AlphaFold Q49A88 1-953 view protein structure

Promoters
RGD ID:6865482
Promoter ID:EPDNEW_H5906
Type:initiation region
Name:CCDC14_3
Description:coiled-coil domain containing 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5907  EPDNEW_H5908  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,949,645 - 123,949,705EPDNEW
RGD ID:6865484
Promoter ID:EPDNEW_H5907
Type:initiation region
Name:CCDC14_1
Description:coiled-coil domain containing 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5906  EPDNEW_H5908  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,961,229 - 123,961,289EPDNEW
RGD ID:6865486
Promoter ID:EPDNEW_H5908
Type:initiation region
Name:CCDC14_2
Description:coiled-coil domain containing 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5906  EPDNEW_H5907  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,961,378 - 123,961,438EPDNEW
RGD ID:6800961
Promoter ID:HG_KWN:46025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409697,   OTTHUMT00000328946,   OTTHUMT00000328947,   OTTHUMT00000328948,   OTTHUMT00000328949,   OTTHUMT00000328950,   OTTHUMT00000328957,   UC003EGY.2,   UC003EGZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363125,162,536 - 125,163,036 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25766 AgrOrtholog
COSMIC CCDC14 COSMIC
Ensembl Genes ENSG00000175455 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310351.8 UniProtKB/TrEMBL
  ENST00000409657.5 UniProtKB/TrEMBL
  ENST00000409697 ENTREZGENE
  ENST00000409697.8 UniProtKB/TrEMBL
  ENST00000417438.1 UniProtKB/TrEMBL
  ENST00000419247.5 UniProtKB/TrEMBL
  ENST00000426152.5 UniProtKB/TrEMBL
  ENST00000433542.7 UniProtKB/TrEMBL
  ENST00000434954.1 UniProtKB/TrEMBL
  ENST00000435910.5 UniProtKB/TrEMBL
  ENST00000479903.5 UniProtKB/TrEMBL
  ENST00000485727.5 UniProtKB/Swiss-Prot
  ENST00000488653 ENTREZGENE
  ENST00000488653.6 UniProtKB/Swiss-Prot
  ENST00000489746 ENTREZGENE
  ENST00000489746.5 UniProtKB/Swiss-Prot
GTEx ENSG00000175455 GTEx
HGNC ID HGNC:25766 ENTREZGENE
Human Proteome Map CCDC14 Human Proteome Map
InterPro CCDC14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64770 UniProtKB/Swiss-Prot
NCBI Gene 64770 ENTREZGENE
OMIM 617147 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22367 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CCDC14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134990564 PharmGKB
UniProt A0A0A0MR27 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2Q3 ENTREZGENE
  B7Z2T2 ENTREZGENE
  B8ZZ41 ENTREZGENE
  B8ZZ58 ENTREZGENE
  C9J6B5_HUMAN UniProtKB/TrEMBL
  C9JSI8_HUMAN UniProtKB/TrEMBL
  C9JU82_HUMAN UniProtKB/TrEMBL
  C9JWZ1_HUMAN UniProtKB/TrEMBL
  CCD14_HUMAN UniProtKB/Swiss-Prot
  D3DN98 ENTREZGENE
  H3BM06_HUMAN UniProtKB/TrEMBL
  H7C2U5_HUMAN UniProtKB/TrEMBL
  H7C5T3_HUMAN UniProtKB/TrEMBL
  J3QT39 ENTREZGENE, UniProtKB/TrEMBL
  Q49A88 ENTREZGENE
  Q7Z3N3 ENTREZGENE
  Q86T30 ENTREZGENE
  Q8IWF8 ENTREZGENE
  Q8WUJ8 ENTREZGENE
  Q96K47 ENTREZGENE
  Q9H9A3 ENTREZGENE
  Q9UFH0 ENTREZGENE
UniProt Secondary B7Z2Q3 UniProtKB/Swiss-Prot
  B7Z2T2 UniProtKB/Swiss-Prot
  B8ZZ41 UniProtKB/Swiss-Prot
  B8ZZ58 UniProtKB/Swiss-Prot
  D3DN98 UniProtKB/Swiss-Prot
  Q7Z3N3 UniProtKB/Swiss-Prot
  Q86T30 UniProtKB/Swiss-Prot
  Q8IWF8 UniProtKB/Swiss-Prot
  Q8WUJ8 UniProtKB/Swiss-Prot
  Q96K47 UniProtKB/Swiss-Prot
  Q9H9A3 UniProtKB/Swiss-Prot
  Q9UFH0 UniProtKB/Swiss-Prot