C7orf57 (chromosome 7 open reading frame 57) - Rat Genome Database

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Gene: C7orf57 (chromosome 7 open reading frame 57) Homo sapiens
Analyze
Symbol: C7orf57
Name: chromosome 7 open reading frame 57
RGD ID: 1642900
HGNC Page HGNC:22247
Description: ASSOCIATED WITH Pleomorphic xanthoastrocytoma; pleomorphic xanthoastrocytoma; INTERACTS WITH benzo[a]pyrene; bisphenol A; cisplatin
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC136288; uncharacterized protein C7orf57
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
GRCh38748,035,543 - 48,061,297 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl748,035,511 - 48,061,304 (+)EnsemblGRCh38hg38GRCh38
GRCh37748,075,140 - 48,100,894 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36748,041,642 - 48,067,418 (+)NCBINCBI36Build 36hg18NCBI36
Celera748,174,395 - 48,200,108 (+)NCBICelera
Cytogenetic Map7p12.3NCBI
HuRef747,960,597 - 47,986,529 (+)NCBIHuRef
CHM1_1748,078,810 - 48,104,594 (+)NCBICHM1_1
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2748,115,064 - 48,140,794 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:19193627   PMID:20379614   PMID:32296183  


Genomics

Comparative Map Data
C7orf57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38748,035,543 - 48,061,297 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl748,035,511 - 48,061,304 (+)EnsemblGRCh38hg38GRCh38
GRCh37748,075,140 - 48,100,894 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36748,041,642 - 48,067,418 (+)NCBINCBI36Build 36hg18NCBI36
Celera748,174,395 - 48,200,108 (+)NCBICelera
Cytogenetic Map7p12.3NCBI
HuRef747,960,597 - 47,986,529 (+)NCBIHuRef
CHM1_1748,078,810 - 48,104,594 (+)NCBICHM1_1
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2748,115,064 - 48,140,794 (+)NCBI
Gm11992
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39118,998,592 - 9,019,354 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl118,998,594 - 9,019,356 (+)EnsemblGRCm39 Ensembl
GRCm38119,048,592 - 9,069,354 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl119,048,594 - 9,069,356 (+)EnsemblGRCm38mm10GRCm38
MGSCv37118,948,595 - 8,969,357 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36118,948,595 - 8,969,357 (+)NCBIMGSCv36mm8
Celera119,485,933 - 9,506,745 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map115.79NCBI
C14h7orf57
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81487,962,231 - 87,982,043 (+)NCBIGRCr8
mRatBN7.21483,748,478 - 83,768,293 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1483,748,478 - 83,767,435 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1488,138,749 - 88,157,580 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01489,378,653 - 89,397,484 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01485,845,808 - 85,864,639 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01489,253,102 - 89,272,283 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1489,253,373 - 89,273,137 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01489,050,478 - 89,069,659 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41489,587,764 - 89,606,874 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1482,784,769 - 82,803,577 (+)NCBICelera
Cytogenetic Map14q21NCBI
LOC102007302
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554565,400,302 - 5,414,448 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554565,399,326 - 5,414,002 (-)NCBIChiLan1.0ChiLan1.0
C6H7orf57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2652,911,536 - 52,942,617 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17101,236,269 - 101,266,510 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0748,677,343 - 48,702,592 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1748,786,936 - 48,810,784 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl748,791,961 - 48,810,744 (+)Ensemblpanpan1.1panPan2
C18H7orf57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11882,168 - 95,529 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1881,796 - 94,950 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,029 - 62,402 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.018114,852 - 128,098 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl18114,870 - 128,075 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11889,682 - 103,046 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01892,633 - 105,948 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.018227,665 - 240,998 (+)NCBIUU_Cfam_GSD_1.0
CUNH7orf57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118103,247,974 - 103,268,863 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647822,460,492 - 22,473,310 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647822,460,480 - 22,480,080 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C18H7orf57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1848,451,103 - 48,473,226 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11848,451,099 - 48,473,246 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CUNH7orf57
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12110,735,574 - 10,762,513 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606211,469,525 - 11,496,228 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH7orf57
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247405,536,589 - 5,555,067 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247405,538,102 - 5,555,257 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C7orf57
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p12.3(chr7:47843159-48156272)x3 copy number gain See cases [RCV000053438] Chr7:47843159..48156272 [GRCh38]
Chr7:47882757..48195869 [GRCh37]
Chr7:47849282..48162394 [NCBI36]
Chr7:7p12.3		 uncertain significance
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1		 pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p12.3(chr7:48012022-48129375)x3 copy number gain See cases [RCV000141289] Chr7:48012022..48129375 [GRCh38]
Chr7:48051619..48168972 [GRCh37]
Chr7:48018144..48135497 [NCBI36]
Chr7:7p12.3		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2		 pathogenic
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001100159.3(C7orf57):c.705C>A (p.Asp235Glu) single nucleotide variant not specified [RCV004194610] Chr7:48052799 [GRCh38]
Chr7:48092396 [GRCh37]
Chr7:7p12.3		 likely benign
NM_001100159.3(C7orf57):c.345G>T (p.Gln115His) single nucleotide variant not specified [RCV004082463] Chr7:48043584 [GRCh38]
Chr7:48083181 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_001100159.3(C7orf57):c.157G>A (p.Glu53Lys) single nucleotide variant not specified [RCV004203166] Chr7:48041435 [GRCh38]
Chr7:48081032 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_001100159.3(C7orf57):c.713C>T (p.Thr238Ile) single nucleotide variant not specified [RCV004110573] Chr7:48052807 [GRCh38]
Chr7:48092404 [GRCh37]
Chr7:7p12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1958
Count of miRNA genes:343
Interacting mature miRNAs:364
Transcripts:ENST00000348904, ENST00000420324, ENST00000430738, ENST00000435376, ENST00000461741, ENST00000539619
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 2 46 14 35 56 1
Low 36 10 197 40 109 15 344 17 845 139 654 600 32 8 154
Below cutoff 1689 2129 1194 313 1243 203 2951 1183 2667 235 626 906 120 1 977 1789 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001100159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC069279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348904   ⟹   ENSP00000335500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,543 - 48,061,297 (+)Ensembl
RefSeq Acc Id: ENST00000420324   ⟹   ENSP00000394648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,511 - 48,061,253 (+)Ensembl
RefSeq Acc Id: ENST00000430738   ⟹   ENSP00000410944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,511 - 48,061,304 (+)Ensembl
RefSeq Acc Id: ENST00000435376   ⟹   ENSP00000391652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,511 - 48,061,304 (+)Ensembl
RefSeq Acc Id: ENST00000461741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,530 - 48,041,653 (+)Ensembl
RefSeq Acc Id: ENST00000539619   ⟹   ENSP00000442474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl748,035,511 - 48,061,294 (+)Ensembl
RefSeq Acc Id: NM_001100159   ⟹   NP_001093629
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
GRCh37748,075,108 - 48,100,894 (+)NCBI
Build 36748,041,642 - 48,067,418 (+)NCBI Archive
Celera748,174,395 - 48,200,108 (+)RGD
HuRef747,960,597 - 47,986,529 (+)NCBI
CHM1_1748,078,810 - 48,104,594 (+)NCBI
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
CRA_TCAGchr7v2748,115,064 - 48,140,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267865   ⟹   NP_001254794
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
GRCh37748,075,108 - 48,100,894 (+)NCBI
HuRef747,960,597 - 47,986,529 (+)NCBI
CHM1_1748,078,810 - 48,104,594 (+)NCBI
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
CRA_TCAGchr7v2748,115,064 - 48,140,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267866   ⟹   NP_001254795
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
GRCh37748,075,108 - 48,100,894 (+)NCBI
HuRef747,960,597 - 47,986,529 (+)NCBI
CHM1_1748,078,810 - 48,104,594 (+)NCBI
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
CRA_TCAGchr7v2748,115,064 - 48,140,794 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715650   ⟹   XP_006715713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515121   ⟹   XP_011513423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515122   ⟹   XP_011513424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,036,204 - 48,061,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446653   ⟹   XP_024302421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419885   ⟹   XP_047275841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
RefSeq Acc Id: XM_047419886   ⟹   XP_047275842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,543 - 48,061,297 (+)NCBI
RefSeq Acc Id: XM_054357241   ⟹   XP_054213216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
RefSeq Acc Id: XM_054357242   ⟹   XP_054213217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
RefSeq Acc Id: XM_054357243   ⟹   XP_054213218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
RefSeq Acc Id: XM_054357244   ⟹   XP_054213219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,198,465 - 48,223,552 (+)NCBI
RefSeq Acc Id: XM_054357245   ⟹   XP_054213220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
RefSeq Acc Id: XM_054357246   ⟹   XP_054213221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0748,197,785 - 48,223,552 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001093629   ⟸   NM_001100159
- Peptide Label: isoform 1
- UniProtKB: C9JBJ8 (UniProtKB/Swiss-Prot),   Q8NEG2 (UniProtKB/Swiss-Prot),   J3KQX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254794   ⟸   NM_001267865
- Peptide Label: isoform 2
- UniProtKB: F5H7J8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254795   ⟸   NM_001267866
- Peptide Label: isoform 3
- UniProtKB: Q86XB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715713   ⟸   XM_006715650
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011513423   ⟸   XM_011515121
- Peptide Label: isoform X1
- UniProtKB: C9JBJ8 (UniProtKB/Swiss-Prot),   Q8NEG2 (UniProtKB/Swiss-Prot),   J3KQX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513424   ⟸   XM_011515122
- Peptide Label: isoform X3
- UniProtKB: C9JQZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302421   ⟸   XM_024446653
- Peptide Label: isoform X2
- UniProtKB: J3KQX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000335500   ⟸   ENST00000348904
RefSeq Acc Id: ENSP00000410944   ⟸   ENST00000430738
RefSeq Acc Id: ENSP00000442474   ⟸   ENST00000539619
RefSeq Acc Id: ENSP00000394648   ⟸   ENST00000420324
RefSeq Acc Id: ENSP00000391652   ⟸   ENST00000435376
RefSeq Acc Id: XP_047275841   ⟸   XM_047419885
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275842   ⟸   XM_047419886
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213217   ⟸   XM_054357242
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213220   ⟸   XM_054357245
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213216   ⟸   XM_054357241
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213218   ⟸   XM_054357243
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213221   ⟸   XM_054357246
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213219   ⟸   XM_054357244
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEG2-F1-model_v2 AlphaFold Q8NEG2 1-295 view protein structure

Promoters
RGD ID:7210571
Promoter ID:EPDNEW_H11030
Type:initiation region
Name:C7orf57_2
Description:chromosome 7 open reading frame 57
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11031  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,035,573 - 48,035,633EPDNEW
RGD ID:7210569
Promoter ID:EPDNEW_H11031
Type:single initiation site
Name:C7orf57_1
Description:chromosome 7 open reading frame 57
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11030  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38748,037,535 - 48,037,595EPDNEW
RGD ID:6805333
Promoter ID:HG_KWN:57362
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_001100159,   OTTHUMT00000341746,   OTTHUMT00000341747,   OTTHUMT00000341748,   OTTHUMT00000341749
Position:
Human AssemblyChrPosition (strand)Source
Build 36748,041,391 - 48,041,891 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22247 AgrOrtholog
COSMIC C7orf57 COSMIC
Ensembl Genes ENSG00000164746 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000348904 ENTREZGENE
  ENST00000348904.4 UniProtKB/Swiss-Prot
  ENST00000420324.5 UniProtKB/TrEMBL
  ENST00000430738 ENTREZGENE
  ENST00000430738.5 UniProtKB/TrEMBL
  ENST00000435376 ENTREZGENE
  ENST00000435376.5 UniProtKB/Swiss-Prot
  ENST00000539619 ENTREZGENE
  ENST00000539619.5 UniProtKB/TrEMBL
GTEx ENSG00000164746 GTEx
HGNC ID HGNC:22247 ENTREZGENE
Human Proteome Map C7orf57 Human Proteome Map
InterPro DUF5524 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:136288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 136288 ENTREZGENE
PANTHER CHROMOSOME 7 OPEN READING FRAME 57 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF5524 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162380613 PharmGKB
UniProt C9JBJ8 ENTREZGENE
  C9JQZ6 ENTREZGENE, UniProtKB/TrEMBL
  CG057_HUMAN UniProtKB/Swiss-Prot
  F5H7J8 ENTREZGENE, UniProtKB/TrEMBL
  J3KQX6 ENTREZGENE, UniProtKB/TrEMBL
  Q86XB5 ENTREZGENE, UniProtKB/TrEMBL
  Q8NEG2 ENTREZGENE
UniProt Secondary C9JBJ8 UniProtKB/Swiss-Prot