CUNH12orf57 (chromosome unknown C12orf57 homolog)

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Gene: CUNH12orf57 (chromosome unknown C12orf57 homolog) Chlorocebus sabaeus

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Symbol:

CUNH12orf57 (Ensembl: C12orf57)

Name:

chromosome unknown C12orf57 homolog (Ensembl:chromosome 12 open reading frame 57)

RGD ID:

18704258

Description:

INVOLVED IN camera-type eye morphogenesis (inferred); cognition (inferred); corpus callosum morphogenesis (inferred); ASSOCIATED WITH Aicardi-Goutieres Syndrome 9 (ortholog); developmental and epileptic encephalopathy 21 (ortholog); Developmental Disabilities (ortholog); FOUND IN cytoplasm (inferred); nuclear speck (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

C11H12orf57; chromosome 11 open reading frame, human C12orf57; protein C10

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	6,974,741 - 6,976,922 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	6,974,953 - 6,976,921 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	1,240,813 - 1,243,407 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Aicardi-Goutieres Syndrome 9 (ISO)

developmental and epileptic encephalopathy 21 (ISO)

Developmental Disabilities (ISO)

genetic disease (ISO)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (ISO)

intellectual disability (ISO)

Klippel-Feil syndrome 3 (ISO)

lymphoproliferative syndrome 2 (ISO)

peroxisome biogenesis disorder 2B (ISO)

Temtamy syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

camera-type eye morphogenesis (IEA)

cognition (IEA)

corpus callosum morphogenesis (IEA)

post-embryonic development (IEA)

psychomotor behavior (IEA)

regulation of skeletal muscle contraction (IEA)

third ventricle development (IEA)

Cellular Component

cytoplasm (IEA)

nuclear speck (IEA)

Molecular Function

protein binding (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

CUNH12orf57
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	6,974,741 - 6,976,922 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	6,974,953 - 6,976,921 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	1,240,813 - 1,243,407 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

C12orf57
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,943,433 - 6,946,003 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	6,942,978 - 6,946,003 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	7,052,596 - 7,055,166 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,923,464 - 6,925,426 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	8,671,824 - 8,673,786 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,909,305 - 6,911,269 (+)	NCBI		HuRef
CHM1_1	12	7,052,190 - 7,054,152 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,954,599 - 6,957,169 (+)	NCBI		T2T-CHM13v2.0

Grcc10
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	124,716,146 - 124,718,032 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	124,716,146 - 124,718,337 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	124,739,183 - 124,741,069 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	124,739,183 - 124,741,374 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	124,689,201 - 124,691,097 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	124,704,802 - 124,706,698 (-)	NCBI		MGSCv36	mm8
Celera	6	126,420,916 - 126,422,811 (-)	NCBI		Celera
Cytogenetic Map	6	F2	NCBI
cM Map	6	59.17	NCBI

Grcc10
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	159,237,562 - 159,239,223 (-)	NCBI		GRCr8
mRatBN7.2	4	157,551,276 - 157,552,924 (-)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	4	163,773,493 - 163,775,128 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	159,556,399 - 159,558,034 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	158,197,983 - 158,199,618 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	157,264,383 - 157,266,042 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	157,264,383 - 157,266,018 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	9	20,279,938 - 20,281,195 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	224,281,979 - 224,283,628 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	160,869,349 - 160,870,984 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	146,289,542 - 146,291,177 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

LOC102009926
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	4,524,236 - 4,525,760 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	4,524,236 - 4,525,760 (+)	NCBI	ChiLan1.0	ChiLan1.0

C10H12orf57
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	12,506,164 - 12,509,674 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	12,504,151 - 12,506,433 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	7,073,251 - 7,075,408 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	6,987,964 - 6,990,580 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	6,978,576 - 6,990,580 (+)	Ensembl	panpan1.1		panPan2

C27H12orf57
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	38,101,705 - 38,103,553 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	38,101,786 - 38,127,910 (-)	NCBI	CanFam3.1		canFam3	CanFam3.1
CanFam3.1 Ensembl	27	38,101,786 - 38,127,910 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	27	38,454,300 - 38,456,072 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	38,454,384 - 38,480,448 (-)	Ensembl		ROS_Cfam_1.0 Ensembl

CUNH12orf57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	102,217,192 - 102,219,310 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936709	884,741 - 886,895 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936709	884,741 - 886,617 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C5H12orf57
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	63,779,513 - 63,781,517 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	63,779,510 - 63,781,307 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	66,216,267 - 66,218,064 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CUNH12orf57
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624860	3,578,336 - 3,580,059 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624860	3,578,147 - 3,580,059 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	20	36	36	60	20

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_007967442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037988343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000008247 ⟹ ENSCSAP00000006397

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	11	6,974,953 - 6,976,921 (+)	Ensembl

RefSeq Acc Id:

XM_007967442 ⟹ XP_007965633

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	11	6,974,741 - 6,976,922 (+)	NCBI
Vero_WHO_p1.0	NW_023666063	1,240,813 - 1,243,407 (-)	NCBI

Sequence:

show sequence

AAAAGCCACCTGAGTTCACCCTCACCAGTTGTGGAGTTCATGCATATCCCTTCTTCTCTCTAGA
CACATGCGCAGCAGTGTTACAGCTCTTTTAGAATTTGTCTAGCAGGCTTTCCGGTATTTGCCGG
AAAGCCCCTTTCACATAGCTTGTTCATAACAATAGAATCTATTTAGTGCGCATGATTTCCGCAA
GCTTCTTTTAGTAGTGTTCTCGGTGCGAGCGATGTTACAAGGTTTGGGTACGAAGATTCGGACC
ACGCCTGGGGGCTTCCGGCTACCCCGGATGCTGCTTCGTTTCCGCCCCCATTGGTCTTGGGAAC
TGTTGTAGGACGTGGCTCTTTCTTCCTGATCTTTCCATTTACCTCAGCTGCACTTGCAGCTTCA
GACGCCGTATGGCGTCCGCCGCGGCCCAACCCGCGGCCCTGAGCGCTGAGCAGGCAAAGGTGGT
CCTGGCGGAGGTGATCCAGGCGTTCTCCGCCCCTGAGAATGCAGTGCGCATGGACGAGGCTCGG
GATAACGCGTGCAACGACATGGGTAAGATGCTGCAATTCGTGCTGCCCGTGGCCACGCAGATCC
AGCAGGAGGTTATCAAAGCCTATGGCTTCAGCTGCGACGGGGAAGGTGTCCTTAAATTTGCTCG
CTTGGTCAAGTCCTACGAAGCCCAGGATCCTGAGATCGCCAGCCTGTCAGGCAAGCTGAAGGCG
CTGTTCCTGCCGCCCATGACCCTGCCACCCCACGGGCCTGCTGCTGGTGGCAGCGTGGCTGCCT
CCTGAGAGTTGGCCCTCCCTGTGCCCCTCCCAGGGAAGGAAAGGCCTTGATGTTCCAGATGATA
ATAAACGTGCCTGTGACTTA

hide sequence

RefSeq Acc Id:

XM_037988343 ⟹ XP_037844271

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666063	1,240,813 - 1,243,407 (-)	NCBI

Protein Sequences


Protein RefSeqs	XP_007965633	(Get FASTA)	NCBI Sequence Viewer
	XP_037844271	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000006397
	ENSCSAP00000006397.1

RefSeq Acc Id:	XP_007965633 ⟸ XM_007967442
- Peptide Label:	isoform X1
- UniProtKB:	A0A0D9RCQ8 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSCSAP00000006397 ⟸ ENSCSAT00000008247

RefSeq Acc Id:	XP_037844271 ⟸ XM_037988343
- Peptide Label:	isoform X2

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000010169	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000008247.1	UniProtKB/TrEMBL
InterPro	P_C10	UniProtKB/TrEMBL
KEGG Report	csab:103218490	UniProtKB/TrEMBL
NCBI Gene	C11H12orf57	ENTREZGENE
PANTHER	PROTEIN C10	UniProtKB/TrEMBL
	PTHR13463	UniProtKB/TrEMBL
Pfam	P_C10	UniProtKB/TrEMBL
UniProt	A0A0D9RCQ8	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-12-08	CUNH12orf57	chromosome unknown C12orf57 homolog	C11H12orf57	chromosome 11 open reading frame, human C12orf57	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM