CCDC33 (coiled-coil domain containing 33) - Rat Genome Database

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Gene: CCDC33 (coiled-coil domain containing 33) Homo sapiens
Analyze
Symbol: CCDC33
Name: coiled-coil domain containing 33
RGD ID: 1602211
HGNC Page HGNC:26552
Description: Predicted to be active in peroxisome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cancer/testis antigen 61; CC2D3; coiled-coil domain-containing protein 33; CT61; FLJ23168; FLJ32855; HP11097; hypothetical protein HP11097; MGC34145
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
GRCh381574,202,999 - 74,336,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,202,705 - 74,336,472 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,528,667 - 74,628,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,315,720 - 72,415,535 (+)NCBINCBI36Build 36hg18NCBI36
Celera1551,477,090 - 51,577,123 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,324,495 - 51,424,347 (+)NCBIHuRef
CHM1_11574,646,792 - 74,746,627 (+)NCBICHM1_1
T2T-CHM13v2.01572,084,401 - 72,204,223 (+)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
peroxisome  (IBA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
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
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15146197   PMID:15342556   PMID:16189514   PMID:16344560   PMID:16713569   PMID:19240061   PMID:19447967   PMID:20068295   PMID:20379614   PMID:21244100  
PMID:21516116   PMID:21697133   PMID:21832049   PMID:21873635   PMID:23088713   PMID:23251661   PMID:23443559   PMID:24722188   PMID:25416956   PMID:25814554   PMID:25910212   PMID:26871637  
PMID:27107014   PMID:27229929   PMID:28514442   PMID:30021884   PMID:31515488   PMID:32296183   PMID:33961781   PMID:37704626  


Genomics

Comparative Map Data
CCDC33
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,202,999 - 74,336,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,202,705 - 74,336,472 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,528,667 - 74,628,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,315,720 - 72,415,535 (+)NCBINCBI36Build 36hg18NCBI36
Celera1551,477,090 - 51,577,123 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,324,495 - 51,424,347 (+)NCBIHuRef
CHM1_11574,646,792 - 74,746,627 (+)NCBICHM1_1
T2T-CHM13v2.01572,084,401 - 72,204,223 (+)NCBIT2T-CHM13v2.0
Ccdc33
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,935,956 - 58,026,111 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl957,935,960 - 58,026,106 (-)EnsemblGRCm39 Ensembl
GRCm38958,028,673 - 58,118,823 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,028,677 - 58,118,823 (-)EnsemblGRCm38mm10GRCm38
MGSCv37957,876,489 - 57,966,630 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36957,826,814 - 57,900,434 (-)NCBIMGSCv36mm8
Celera955,262,985 - 55,353,102 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.63NCBI
Ccdc33
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8867,331,519 - 67,430,194 (-)NCBIGRCr8
mRatBN7.2858,434,798 - 58,534,338 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl858,435,661 - 58,534,370 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx863,966,074 - 64,047,953 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0862,243,628 - 62,325,511 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0860,108,194 - 60,190,076 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0862,809,768 - 62,910,520 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl862,811,173 - 62,893,087 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0862,586,934 - 62,686,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4861,806,805 - 61,888,721 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera857,899,978 - 57,981,440 (-)NCBICelera
Cytogenetic Map8q24NCBI
Ccdc33
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,481,232 - 3,576,771 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554503,485,789 - 3,576,768 (-)NCBIChiLan1.0ChiLan1.0
CCDC33
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21663,462,360 - 63,564,080 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11567,625,948 - 67,727,671 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01553,158,057 - 53,278,500 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11572,799,640 - 72,864,897 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1572,800,067 - 72,899,576 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl1572,800,067 - 72,899,576 (+)NCBIpanpan1.1panPan2
CCDC33
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,383,918 - 37,473,425 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,384,239 - 37,473,339 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,319,522 - 37,408,110 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03037,590,971 - 37,679,693 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3037,591,299 - 37,679,237 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13037,543,141 - 37,632,214 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03037,568,919 - 37,657,483 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03037,824,573 - 37,913,268 (+)NCBIUU_Cfam_GSD_1.0
Ccdc33
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640115,431,872 - 115,518,804 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647133,261,012 - 33,366,796 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647133,261,012 - 33,366,850 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC33
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,190,179 - 59,290,877 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,188,624 - 59,224,071 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103245341
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,153,498 - 9,251,614 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048132,431,532 - 132,472,088 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc33
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624781299,898 - 388,775 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624781300,173 - 388,634 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC33
72 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
NM_025055.4(CCDC33):c.273G>A (p.Gly91=) single nucleotide variant Malignant melanoma [RCV000070886] Chr15:74262527 [GRCh38]
Chr15:74554868 [GRCh37]
Chr15:72341921 [NCBI36]
Chr15:15q24.1		 not provided
NM_025055.4(CCDC33):c.1285G>A (p.Asp429Asn) single nucleotide variant Malignant melanoma [RCV000070887] Chr15:74295943 [GRCh38]
Chr15:74588284 [GRCh37]
Chr15:72375337 [NCBI36]
Chr15:15q24.1		 not provided
NM_025055.4(CCDC33):c.1934T>G (p.Leu645Arg) single nucleotide variant Malignant melanoma [RCV000070888] Chr15:74332841 [GRCh38]
Chr15:74625182 [GRCh37]
Chr15:72412235 [NCBI36]
Chr15:15q24.1		 not provided
NM_025055.4(CCDC33):c.2121C>T (p.Ser707=) single nucleotide variant Malignant melanoma [RCV000070889] Chr15:74335070 [GRCh38]
Chr15:74627411 [GRCh37]
Chr15:72414464 [NCBI36]
Chr15:15q24.1		 not provided
NM_025055.4(CCDC33):c.1776C>T (p.Phe592=) single nucleotide variant Malignant melanoma [RCV000062923] Chr15:74332683 [GRCh38]
Chr15:74625024 [GRCh37]
Chr15:72412077 [NCBI36]
Chr15:15q24.1		 not provided
NM_025055.4(CCDC33):c.1777C>T (p.Pro593Ser) single nucleotide variant Malignant melanoma [RCV000062924] Chr15:74332684 [GRCh38]
Chr15:74625025 [GRCh37]
Chr15:72412078 [NCBI36]
Chr15:15q24.1		 not provided
NM_001287181.1(CCDC33):c.70-4184A>G single nucleotide variant Lung cancer [RCV000099657] Chr15:74326005 [GRCh38]
Chr15:74618346 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2		 likely pathogenic|likely benign
NM_025055.5(CCDC33):c.1829C>T (p.Pro610Leu) single nucleotide variant not specified [RCV000202931] Chr15:74332736 [GRCh38]
Chr15:74625077 [GRCh37]
Chr15:15q24.1		 likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_025055.5(CCDC33):c.1527G>T (p.Leu509Phe) single nucleotide variant not specified [RCV004288900] Chr15:74330733 [GRCh38]
Chr15:74623074 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1357G>A (p.Ala453Thr) single nucleotide variant not specified [RCV004300956] Chr15:74330255 [GRCh38]
Chr15:74622596 [GRCh37]
Chr15:15q24.1		 likely benign
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.1(chr15:74408834-74622533)x3 copy number gain not provided [RCV000683706] Chr15:74408834..74622533 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3 copy number gain not provided [RCV000683705] Chr15:74315568..74654641 [GRCh37]
Chr15:15q24.1		 uncertain significance
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3		 likely pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_025055.5(CCDC33):c.1556G>A (p.Arg519Gln) single nucleotide variant not specified [RCV004291760] Chr15:74330991 [GRCh38]
Chr15:74623332 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.70C>A (p.Pro24Thr) single nucleotide variant not specified [RCV004328396] Chr15:74244033 [GRCh38]
Chr15:74536374 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_025055.5(CCDC33):c.911C>T (p.Thr304Ile) single nucleotide variant not specified [RCV004328914] Chr15:74280689 [GRCh38]
Chr15:74573030 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1873C>T (p.Arg625Trp) single nucleotide variant not specified [RCV004259407] Chr15:74332780 [GRCh38]
Chr15:74625121 [GRCh37]
Chr15:15q24.1		 uncertain significance
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_001142617.2(STRA6):c.-15-751T>G single nucleotide variant not provided [RCV001669221] Chr15:74203033 [GRCh38]
Chr15:74495374 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-15-934_-15-933del deletion not provided [RCV001710199] Chr15:74203215..74203216 [GRCh38]
Chr15:74495556..74495557 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1185C>G single nucleotide variant not provided [RCV001608551] Chr15:74207615 [GRCh38]
Chr15:74499956 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1088G>A single nucleotide variant not provided [RCV001654924] Chr15:74207712 [GRCh38]
Chr15:74500053 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+411G>A single nucleotide variant not provided [RCV001709908] Chr15:74208389 [GRCh38]
Chr15:74500730 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1161G>A single nucleotide variant not provided [RCV001693071] Chr15:74207639 [GRCh38]
Chr15:74499980 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1080T>G single nucleotide variant not provided [RCV001355206] Chr15:74207720 [GRCh38]
Chr15:74500061 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001142617.2(STRA6):c.-16+1061C>G single nucleotide variant not provided [RCV001570309] Chr15:74207739 [GRCh38]
Chr15:74500080 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001142617.2(STRA6):c.-16+903G>A single nucleotide variant not provided [RCV000834445] Chr15:74207897 [GRCh38]
Chr15:74500238 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1036C>T single nucleotide variant not provided [RCV000834446] Chr15:74207764 [GRCh38]
Chr15:74500105 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+794G>C single nucleotide variant not provided [RCV001654687] Chr15:74208006 [GRCh38]
Chr15:74500347 [GRCh37]
Chr15:15q24.1		 benign
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.96+123C>T single nucleotide variant not provided [RCV002286115] Chr15:74209236 [GRCh38]
Chr15:74501577 [GRCh37]
Chr15:15q24.1		 likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) copy number loss Hearing impairment [RCV002280767] Chr15:74398068..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 copy number loss not provided [RCV002474580] Chr15:74353736..77884397 [GRCh37]
Chr15:15q24.1-24.3		 pathogenic
NM_025055.5(CCDC33):c.1877C>T (p.Thr626Met) single nucleotide variant not specified [RCV004222783] Chr15:74332784 [GRCh38]
Chr15:74625125 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1159C>G (p.Leu387Val) single nucleotide variant not specified [RCV004140508] Chr15:74295817 [GRCh38]
Chr15:74588158 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1326G>A (p.Met442Ile) single nucleotide variant not specified [RCV004133176] Chr15:74330224 [GRCh38]
Chr15:74622565 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1309C>T (p.Arg437Trp) single nucleotide variant not specified [RCV004222306] Chr15:74330207 [GRCh38]
Chr15:74622548 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1063G>A (p.Val355Met) single nucleotide variant not specified [RCV004200212] Chr15:74281817 [GRCh38]
Chr15:74574158 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.99G>C (p.Lys33Asn) single nucleotide variant not specified [RCV004209653] Chr15:74244062 [GRCh38]
Chr15:74536403 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1115C>T (p.Thr372Ile) single nucleotide variant not specified [RCV004141764] Chr15:74295773 [GRCh38]
Chr15:74588114 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.2002C>T (p.Arg668Trp) single nucleotide variant not specified [RCV004230022] Chr15:74333944 [GRCh38]
Chr15:74626285 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.710C>T (p.Ser237Phe) single nucleotide variant not specified [RCV004132026] Chr15:74272842 [GRCh38]
Chr15:74565183 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.2078G>A (p.Arg693Gln) single nucleotide variant not specified [RCV004170030] Chr15:74335027 [GRCh38]
Chr15:74627368 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.2174C>T (p.Pro725Leu) single nucleotide variant not specified [RCV004174945] Chr15:74335959 [GRCh38]
Chr15:74628300 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.639G>T (p.Lys213Asn) single nucleotide variant not specified [RCV004138152] Chr15:74272771 [GRCh38]
Chr15:74565112 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1972C>T (p.Leu658Phe) single nucleotide variant not specified [RCV004126755] Chr15:74333914 [GRCh38]
Chr15:74626255 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.2098G>T (p.Gly700Cys) single nucleotide variant not specified [RCV004124255] Chr15:74335047 [GRCh38]
Chr15:74627388 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1973T>A (p.Leu658His) single nucleotide variant not specified [RCV004106864] Chr15:74333915 [GRCh38]
Chr15:74626256 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.35T>A (p.Val12Asp) single nucleotide variant Inborn genetic diseases [RCV002723467] Chr15:74209420 [GRCh38]
Chr15:74501761 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1307G>A (p.Arg436Gln) single nucleotide variant not specified [RCV004219609] Chr15:74330205 [GRCh38]
Chr15:74622546 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1714C>G (p.Leu572Val) single nucleotide variant not specified [RCV004094503] Chr15:74331239 [GRCh38]
Chr15:74623580 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1663C>T (p.Arg555Trp) single nucleotide variant not specified [RCV004087501] Chr15:74331098 [GRCh38]
Chr15:74623439 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.643A>G (p.Ser215Gly) single nucleotide variant not specified [RCV004251626] Chr15:74272775 [GRCh38]
Chr15:74565116 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004253369] Chr15:74244130 [GRCh38]
Chr15:74536471 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1462A>C (p.Met488Leu) single nucleotide variant not specified [RCV004269490] Chr15:74330668 [GRCh38]
Chr15:74623009 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.446A>G (p.Lys149Arg) single nucleotide variant not specified [RCV004276509] Chr15:74268358 [GRCh38]
Chr15:74560699 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1865C>T (p.Ala622Val) single nucleotide variant not specified [RCV004274715] Chr15:74332772 [GRCh38]
Chr15:74625113 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1028C>T (p.Thr343Ile) single nucleotide variant not specified [RCV004327388] Chr15:74281782 [GRCh38]
Chr15:74574123 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_025055.5(CCDC33):c.1585G>T (p.Ala529Ser) single nucleotide variant not specified [RCV004253819] Chr15:74331020 [GRCh38]
Chr15:74623361 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1690A>G (p.Met564Val) single nucleotide variant not specified [RCV004299926] Chr15:74331215 [GRCh38]
Chr15:74623556 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1254G>T (p.Glu418Asp) single nucleotide variant not specified [RCV004363289] Chr15:74295912 [GRCh38]
Chr15:74588253 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.776G>A (p.Gly259Glu) single nucleotide variant not specified [RCV004343846] Chr15:74279979 [GRCh38]
Chr15:74572320 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1388T>C (p.Leu463Pro) single nucleotide variant not specified [RCV004353117] Chr15:74330286 [GRCh38]
Chr15:74622627 [GRCh37]
Chr15:15q24.1		 uncertain significance
NC_000015.10:g.74217353C>A single nucleotide variant not provided [RCV003394994] Chr15:74217353 [GRCh38]
Chr15:74509694 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.52G>A (p.Ala18Thr) single nucleotide variant CCDC33-related condition [RCV003914139] Chr15:74244015 [GRCh38]
Chr15:74536356 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001199040.2(STRA6):c.96+1623C>T single nucleotide variant STRA6-related condition [RCV003896350] Chr15:74207736 [GRCh38]
Chr15:74500077 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.484A>G (p.Thr162Ala) single nucleotide variant CCDC33-related condition [RCV003969516] Chr15:74268396 [GRCh38]
Chr15:74560737 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1454C>T (p.Thr485Met) single nucleotide variant CCDC33-related condition [RCV003934244] Chr15:74330352 [GRCh38]
Chr15:74622693 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.610C>T (p.Arg204Trp) single nucleotide variant not specified [RCV004427465] Chr15:74271766 [GRCh38]
Chr15:74564107 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.736G>A (p.Val246Ile) single nucleotide variant not specified [RCV004427466] Chr15:74272868 [GRCh38]
Chr15:74565209 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1009C>T (p.Arg337Trp) single nucleotide variant not specified [RCV004427449] Chr15:74280787 [GRCh38]
Chr15:74573128 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1203C>A (p.Asp401Glu) single nucleotide variant not specified [RCV004427451] Chr15:74295861 [GRCh38]
Chr15:74588202 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1204A>G (p.Thr402Ala) single nucleotide variant not specified [RCV004427452] Chr15:74295862 [GRCh38]
Chr15:74588203 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.2114C>T (p.Ser705Leu) single nucleotide variant not specified [RCV004427461] Chr15:74335063 [GRCh38]
Chr15:74627404 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.57G>A (p.Arg19=) single nucleotide variant STRA6-related condition [RCV003909869] Chr15:74209398 [GRCh38]
Chr15:74501739 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.163G>A (p.Glu55Lys) single nucleotide variant not specified [RCV004427456] Chr15:74244126 [GRCh38]
Chr15:74536467 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1861A>C (p.Asn621His) single nucleotide variant not specified [RCV004427459] Chr15:74332768 [GRCh38]
Chr15:74625109 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1894C>T (p.Arg632Cys) single nucleotide variant not specified [RCV004427460] Chr15:74332801 [GRCh38]
Chr15:74625142 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.475T>A (p.Leu159Met) single nucleotide variant not specified [RCV004427462] Chr15:74268387 [GRCh38]
Chr15:74560728 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.487G>A (p.Val163Ile) single nucleotide variant not specified [RCV004427463] Chr15:74268399 [GRCh38]
Chr15:74560740 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.520A>G (p.Ile174Val) single nucleotide variant not specified [RCV004427464] Chr15:74268432 [GRCh38]
Chr15:74560773 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1684G>A (p.Glu562Lys) single nucleotide variant not specified [RCV004427457] Chr15:74331209 [GRCh38]
Chr15:74623550 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_025055.5(CCDC33):c.706C>T (p.Pro236Ser) single nucleotide variant not specified [RCV004357902] Chr15:74272838 [GRCh38]
Chr15:74565179 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1769C>T (p.Thr590Met) single nucleotide variant not specified [RCV004349553] Chr15:74331294 [GRCh38]
Chr15:74623635 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1040C>T (p.Thr347Ile) single nucleotide variant not specified [RCV004427450] Chr15:74281794 [GRCh38]
Chr15:74574135 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1283A>G (p.His428Arg) single nucleotide variant not specified [RCV004427453] Chr15:74295941 [GRCh38]
Chr15:74588282 [GRCh37]
Chr15:15q24.1		 likely benign
NM_025055.5(CCDC33):c.1306C>T (p.Arg436Trp) single nucleotide variant not specified [RCV004427454] Chr15:74330204 [GRCh38]
Chr15:74622545 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_025055.5(CCDC33):c.1342T>C (p.Ser448Pro) single nucleotide variant not specified [RCV004427455] Chr15:74330240 [GRCh38]
Chr15:74622581 [GRCh37]
Chr15:15q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2250
Count of miRNA genes:746
Interacting mature miRNAs:853
Transcripts:ENST00000268082, ENST00000321288, ENST00000321374, ENST00000398814, ENST00000558659, ENST00000558821, ENST00000560565, ENST00000563951
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D15S991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,600,582 - 74,600,779UniSTSGRCh37
Build 361572,387,635 - 72,387,832RGDNCBI36
Celera1551,549,008 - 51,549,215RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,396,445 - 51,396,652UniSTS
Marshfield Genetic Map1572.37RGD
Marshfield Genetic Map1572.37UniSTS
Genethon Genetic Map1571.8UniSTS
deCODE Assembly Map1580.08UniSTS
D15S1001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,575,966 - 74,576,224UniSTSGRCh37
Build 361572,363,019 - 72,363,277RGDNCBI36
Celera1551,524,380 - 51,524,646RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,371,818 - 51,372,084UniSTS
Marshfield Genetic Map1572.37UniSTS
Marshfield Genetic Map1572.37RGD
Genethon Genetic Map1571.8UniSTS
deCODE Assembly Map1579.83UniSTS
G60564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,600,665 - 74,600,760UniSTSGRCh37
Build 361572,387,718 - 72,387,813RGDNCBI36
Celera1551,549,091 - 51,549,196RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,396,528 - 51,396,633UniSTS
TNG Radiation Hybrid Map1528061.0UniSTS
SHGC-147595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,614,125 - 74,614,422UniSTSGRCh37
Build 361572,401,178 - 72,401,475RGDNCBI36
Celera1551,562,562 - 51,562,859RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,409,992 - 51,410,289UniSTS
TNG Radiation Hybrid Map1528077.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 18 332 40
Low 13 4 240 5 17 6 74 12 494 23 264 354 1 5
Below cutoff 1827 1757 1086 260 825 117 2715 1450 2500 148 718 1018 147 741 1718 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB593169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI223423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP292996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN265765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB049940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB070410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268082   ⟹   ENSP00000268082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,318,570 - 74,336,141 (+)Ensembl
RefSeq Acc Id: ENST00000321374   ⟹   ENSP00000325661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,318,541 - 74,335,672 (+)Ensembl
RefSeq Acc Id: ENST00000398814   ⟹   ENSP00000381795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,236,326 - 74,336,141 (+)Ensembl
RefSeq Acc Id: ENST00000558645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,203,010 - 74,213,488 (+)Ensembl
RefSeq Acc Id: ENST00000558659   ⟹   ENSP00000453542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,266,718 - 74,336,472 (+)Ensembl
RefSeq Acc Id: ENST00000558821   ⟹   ENSP00000452817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,318,559 - 74,336,132 (+)Ensembl
RefSeq Acc Id: ENST00000559243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,217,201 - 74,218,789 (+)Ensembl
RefSeq Acc Id: ENST00000560148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,202,705 - 74,221,557 (+)Ensembl
RefSeq Acc Id: ENST00000560565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,318,541 - 74,335,013 (+)Ensembl
RefSeq Acc Id: ENST00000561332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,203,050 - 74,212,973 (+)Ensembl
RefSeq Acc Id: ENST00000563951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,295,813 - 74,300,829 (+)Ensembl
RefSeq Acc Id: ENST00000635913   ⟹   ENSP00000490425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,217,201 - 74,336,141 (+)Ensembl
RefSeq Acc Id: NM_001287181   ⟹   NP_001274110
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,318,559 - 74,336,141 (+)NCBI
HuRef1551,324,495 - 51,424,347 (+)NCBI
CHM1_11574,729,028 - 74,746,627 (+)NCBI
T2T-CHM13v2.01572,186,312 - 72,203,892 (+)NCBI
Sequence:
RefSeq Acc Id: NM_025055   ⟹   NP_079331
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,236,326 - 74,336,141 (+)NCBI
GRCh371574,528,630 - 74,628,813 (+)NCBI
Build 361572,315,720 - 72,415,535 (+)NCBI Archive
Celera1551,477,090 - 51,577,123 (+)RGD
HuRef1551,324,495 - 51,424,347 (+)NCBI
CHM1_11574,646,792 - 74,746,627 (+)NCBI
T2T-CHM13v2.01572,104,077 - 72,203,892 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182791   ⟹   NP_877592
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,318,559 - 74,336,141 (+)NCBI
GRCh371574,528,630 - 74,628,813 (+)NCBI
Build 361572,397,953 - 72,415,535 (+)NCBI Archive
Celera1551,477,090 - 51,577,123 (+)RGD
HuRef1551,324,495 - 51,424,347 (+)NCBI
CHM1_11574,729,028 - 74,746,627 (+)NCBI
T2T-CHM13v2.01572,186,312 - 72,203,892 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005254692   ⟹   XP_005254749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,236,326 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522085   ⟹   XP_011520387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522086   ⟹   XP_011520388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,231,972 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522087   ⟹   XP_011520389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,231,972 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522089   ⟹   XP_011520391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,279,119 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022623   ⟹   XP_016878112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022624   ⟹   XP_016878113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022625   ⟹   XP_016878114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022626   ⟹   XP_016878115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022627   ⟹   XP_016878116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022628   ⟹   XP_016878117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022630   ⟹   XP_016878119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,297,300 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022631   ⟹   XP_016878120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,300,829 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433141   ⟹   XP_047289097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,202,999 - 74,336,472 (+)NCBI
RefSeq Acc Id: XM_047433142   ⟹   XP_047289098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,336,141 (+)NCBI
RefSeq Acc Id: XM_054378903   ⟹   XP_054234878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,204,223 (+)NCBI
RefSeq Acc Id: XM_054378904   ⟹   XP_054234879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378905   ⟹   XP_054234880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,204,223 (+)NCBI
RefSeq Acc Id: XM_054378906   ⟹   XP_054234881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378907   ⟹   XP_054234882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378908   ⟹   XP_054234883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378909   ⟹   XP_054234884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378910   ⟹   XP_054234885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,403 - 72,203,892 (+)NCBI
RefSeq Acc Id: XM_054378911   ⟹   XP_054234886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,099,721 - 72,204,223 (+)NCBI
RefSeq Acc Id: XM_054378912   ⟹   XP_054234887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,104,077 - 72,204,223 (+)NCBI
RefSeq Acc Id: XM_054378913   ⟹   XP_054234888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,099,721 - 72,204,223 (+)NCBI
RefSeq Acc Id: XM_054378914   ⟹   XP_054234889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,401 - 72,165,048 (+)NCBI
RefSeq Acc Id: XM_054378915   ⟹   XP_054234890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,168,577 (+)NCBI
RefSeq Acc Id: XM_054378916   ⟹   XP_054234891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,146,858 - 72,204,223 (+)NCBI
RefSeq Acc Id: XR_001751401
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,217,201 - 74,333,965 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008489012
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,084,402 - 72,201,716 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001274110 (Get FASTA)   NCBI Sequence Viewer  
  NP_079331 (Get FASTA)   NCBI Sequence Viewer  
  NP_877592 (Get FASTA)   NCBI Sequence Viewer  
  XP_005254749 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520387 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520388 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520389 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520391 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878112 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878113 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878114 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878115 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878116 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878117 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878119 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289097 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289098 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188533 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188534 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188535 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188536 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188537 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234886 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234887 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234888 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234889 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234890 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234891 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH31684 (Get FASTA)   NCBI Sequence Viewer  
  BAB15564 (Get FASTA)   NCBI Sequence Viewer  
  BAF83398 (Get FASTA)   NCBI Sequence Viewer  
  BAG51911 (Get FASTA)   NCBI Sequence Viewer  
  BAJ84097 (Get FASTA)   NCBI Sequence Viewer  
  EAW99343 (Get FASTA)   NCBI Sequence Viewer  
  EAW99344 (Get FASTA)   NCBI Sequence Viewer  
  EAW99345 (Get FASTA)   NCBI Sequence Viewer  
  EAW99346 (Get FASTA)   NCBI Sequence Viewer  
  EAW99347 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000268082
  ENSP00000268082.4
  ENSP00000325661.5
  ENSP00000381795
  ENSP00000381795.3
  ENSP00000452817
  ENSP00000452817.1
  ENSP00000453542
  ENSP00000453542.1
  ENSP00000490425
  ENSP00000490425.2
  ENSP00000500223.1
  ENSP00000500272.1
  ENSP00000500591.1
  ENSP00000500783.1
GenBank Protein Q8N5R6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_079331   ⟸   NM_025055
- Peptide Label: isoform 1
- UniProtKB: Q8N5R6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_877592   ⟸   NM_182791
- Peptide Label: isoform 2
- UniProtKB: Q8N5R6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005254749   ⟸   XM_005254692
- Peptide Label: isoform X11
- UniProtKB: H0YMB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274110   ⟸   NM_001287181
- Peptide Label: isoform 3
- UniProtKB: Q8N5R6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520387   ⟸   XM_011522085
- Peptide Label: isoform X1
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520388   ⟸   XM_011522086
- Peptide Label: isoform X10
- UniProtKB: H0YMB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520389   ⟸   XM_011522087
- Peptide Label: isoform X11
- UniProtKB: H0YMB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520391   ⟸   XM_011522089
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016878119   ⟸   XM_017022630
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016878112   ⟸   XM_017022623
- Peptide Label: isoform X2
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878120   ⟸   XM_017022631
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016878113   ⟸   XM_017022624
- Peptide Label: isoform X3
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878115   ⟸   XM_017022626
- Peptide Label: isoform X5
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot),   A0A1B0GV97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878114   ⟸   XM_017022625
- Peptide Label: isoform X4
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878117   ⟸   XM_017022628
- Peptide Label: isoform X7
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878116   ⟸   XM_017022627
- Peptide Label: isoform X6
- UniProtKB: Q9H5Q6 (UniProtKB/Swiss-Prot),   Q8TAX6 (UniProtKB/Swiss-Prot),   Q8N5R6 (UniProtKB/Swiss-Prot),   B3KQ49 (UniProtKB/Swiss-Prot),   A8MVU9 (UniProtKB/Swiss-Prot),   A8MV61 (UniProtKB/Swiss-Prot),   A8MPQ6 (UniProtKB/Swiss-Prot),   A8K3U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000381795   ⟸   ENST00000398814
RefSeq Acc Id: ENSP00000268082   ⟸   ENST00000268082
RefSeq Acc Id: ENSP00000490425   ⟸   ENST00000635913
RefSeq Acc Id: ENSP00000453542   ⟸   ENST00000558659
RefSeq Acc Id: ENSP00000452817   ⟸   ENST00000558821
RefSeq Acc Id: ENSP00000325661   ⟸   ENST00000321374
RefSeq Acc Id: XP_047289097   ⟸   XM_047433141
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047289098   ⟸   XM_047433142
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234889   ⟸   XM_054378914
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054234878   ⟸   XM_054378903
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234880   ⟸   XM_054378905
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054234881   ⟸   XM_054378906
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054234883   ⟸   XM_054378908
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054234879   ⟸   XM_054378904
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234884   ⟸   XM_054378909
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054234882   ⟸   XM_054378907
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234890   ⟸   XM_054378915
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054234885   ⟸   XM_054378910
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234888   ⟸   XM_054378913
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054234886   ⟸   XM_054378911
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054234887   ⟸   XM_054378912
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054234891   ⟸   XM_054378916
- Peptide Label: isoform X14
Protein Domains
C2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N5R6-F1-model_v2 AlphaFold Q8N5R6 1-958 view protein structure

Promoters
RGD ID:6792164
Promoter ID:HG_KWN:21893
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000321288,   NM_025055
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,315,271 - 72,315,771 (+)MPROMDB
RGD ID:7230083
Promoter ID:EPDNEW_H20786
Type:initiation region
Name:CCDC33_1
Description:coiled-coil domain containing 33
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
GRCh381574,318,559 - 74,318,619EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26552 AgrOrtholog
COSMIC CCDC33 COSMIC
Ensembl Genes ENSG00000140481 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288407 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000268082 ENTREZGENE
  ENST00000268082.4 UniProtKB/Swiss-Prot
  ENST00000321374.9 UniProtKB/Swiss-Prot
  ENST00000398814 ENTREZGENE
  ENST00000398814.8 UniProtKB/Swiss-Prot
  ENST00000558659 ENTREZGENE
  ENST00000558659.5 UniProtKB/TrEMBL
  ENST00000558821 ENTREZGENE
  ENST00000558821.5 UniProtKB/Swiss-Prot
  ENST00000635913 ENTREZGENE
  ENST00000635913.2 UniProtKB/TrEMBL
  ENST00000672175.1 UniProtKB/Swiss-Prot
  ENST00000672263.1 UniProtKB/Swiss-Prot
  ENST00000673214.1 UniProtKB/Swiss-Prot
  ENST00000673517.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140481 GTEx
  ENSG00000288407 GTEx
HGNC ID HGNC:26552 ENTREZGENE
Human Proteome Map CCDC33 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCD33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80125 UniProtKB/Swiss-Prot
NCBI Gene 80125 ENTREZGENE
OMIM 618525 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21623 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672188 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP C2 domain (Calcium/lipid-binding domain, CaLB) UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A1B0GV97 ENTREZGENE, UniProtKB/TrEMBL
  A8K3U4 ENTREZGENE
  A8MPQ6 ENTREZGENE
  A8MV61 ENTREZGENE
  A8MVU9 ENTREZGENE
  B3KQ49 ENTREZGENE
  CCD33_HUMAN UniProtKB/Swiss-Prot
  H0YMB8 ENTREZGENE, UniProtKB/TrEMBL
  Q8N5R6 ENTREZGENE
  Q8TAX6 ENTREZGENE
  Q9H5Q6 ENTREZGENE
UniProt Secondary A8K3U4 UniProtKB/Swiss-Prot
  A8MPQ6 UniProtKB/Swiss-Prot
  A8MV61 UniProtKB/Swiss-Prot
  A8MVU9 UniProtKB/Swiss-Prot
  B3KQ49 UniProtKB/Swiss-Prot
  Q8TAX6 UniProtKB/Swiss-Prot
  Q9H5Q6 UniProtKB/Swiss-Prot