ZBTB7C (zinc finger and BTB domain containing 7C) - Rat Genome Database

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Gene: ZBTB7C (zinc finger and BTB domain containing 7C) Homo sapiens
Analyze
Symbol: ZBTB7C
Name: zinc finger and BTB domain containing 7C
RGD ID: 1606940
HGNC Page HGNC:31700
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: affected by papillomavirus DNA integration in ME180 cells protein 1; APM-1; APM1; B230208J24Rik; BTB/POZ-zinc finger protein-like; FLJ37907; ZBTB36; zinc finger and BTB domain containing 36; zinc finger and BTB domain-containing 7C; zinc finger and BTB domain-containing protein 36; zinc finger and BTB domain-containing protein 7C; zinc finger protein 857C; ZNF857C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381848,026,672 - 48,412,585 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1848,026,672 - 48,410,752 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,553,043 - 45,938,956 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,807,731 - 43,821,492 (-)NCBINCBI36Build 36hg18NCBI36
Celera1842,403,417 - 42,417,178 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,403,336 - 42,513,346 (-)NCBIHuRef
CHM1_11845,548,625 - 45,659,345 (-)NCBICHM1_1
T2T-CHM13v2.01848,217,704 - 48,603,693 (-)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

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:1716694   PMID:8889548   PMID:9427755   PMID:14702039   PMID:17932560   PMID:20467437   PMID:21804610   PMID:21873635   PMID:22253232   PMID:22331133   PMID:23006423   PMID:23456168  
PMID:26542693   PMID:27646874   PMID:28380382   PMID:28571744   PMID:32193444   PMID:33946045   PMID:33961781   PMID:37121538  


Genomics

Comparative Map Data
ZBTB7C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381848,026,672 - 48,412,585 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1848,026,672 - 48,410,752 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,553,043 - 45,938,956 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,807,731 - 43,821,492 (-)NCBINCBI36Build 36hg18NCBI36
Celera1842,403,417 - 42,417,178 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,403,336 - 42,513,346 (-)NCBIHuRef
CHM1_11845,548,625 - 45,659,345 (-)NCBICHM1_1
T2T-CHM13v2.01848,217,704 - 48,603,693 (-)NCBIT2T-CHM13v2.0
Zbtb7c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391875,953,249 - 76,281,635 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1875,953,249 - 76,281,635 (+)EnsemblGRCm39 Ensembl
GRCm381875,820,178 - 76,148,564 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1875,820,178 - 76,148,564 (+)EnsemblGRCm38mm10GRCm38
MGSCv371875,979,832 - 76,308,218 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361875,945,543 - 76,273,929 (+)NCBIMGSCv36mm8
Celera1877,062,073 - 77,389,737 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1851.1NCBI
Zbtb7c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81871,716,586 - 72,045,831 (+)NCBIGRCr8
mRatBN7.21869,441,616 - 69,765,744 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1869,441,616 - 69,765,297 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1871,551,359 - 71,874,914 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01872,220,560 - 72,544,178 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01870,077,153 - 70,400,731 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01872,124,955 - 72,462,293 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1872,005,581 - 72,462,292 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01871,255,932 - 71,590,025 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1868,162,730 - 68,298,697 (+)NCBICelera
Cytogenetic Map18q12.2-q12.3NCBI
Zbtb7c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540233,296,344 - 33,543,850 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540233,296,387 - 33,389,901 (-)NCBIChiLan1.0ChiLan1.0
ZBTB7C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21765,554,005 - 65,940,082 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11851,246,718 - 51,632,674 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01841,406,515 - 41,792,391 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11844,764,718 - 45,078,436 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1844,766,698 - 44,778,501 (-)Ensemblpanpan1.1panPan2
ZBTB7C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1780,393,636 - 80,495,961 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl780,484,067 - 80,493,712 (+)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha779,803,586 - 79,896,334 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0780,234,681 - 80,569,454 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl780,368,253 - 80,567,202 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1779,947,937 - 80,280,727 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0779,977,815 - 80,312,744 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0780,264,663 - 80,599,762 (+)NCBIUU_Cfam_GSD_1.0
Zbtb7c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494439,146,799 - 39,407,094 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649714,631,868 - 14,646,135 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649714,505,482 - 14,645,654 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBTB7C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl197,610,694 - 98,015,089 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1197,610,293 - 98,015,158 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21107,088,935 - 107,269,279 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZBTB7C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11832,537,474 - 32,918,797 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1832,610,733 - 32,920,166 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660506,776,226 - 7,182,955 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zbtb7c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477811,622,010 - 11,635,407 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477811,622,007 - 11,980,279 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZBTB7C
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] Chr18:40718750..48354407 [GRCh38]
Chr18:38298714..45880778 [GRCh37]
Chr18:36552712..44134776 [NCBI36]
Chr18:18q12.3-21.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1
likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001318841.2(ZBTB7C):c.1531C>G (p.Leu511Val) single nucleotide variant Inborn genetic diseases [RCV003275153] Chr18:48029589 [GRCh38]
Chr18:45555960 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.515C>G (p.Ala172Gly) single nucleotide variant Inborn genetic diseases [RCV003243497] Chr18:48040593 [GRCh38]
Chr18:45566964 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31
pathogenic
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2
pathogenic
NM_001318841.2(ZBTB7C):c.394G>T (p.Asp132Tyr) single nucleotide variant Inborn genetic diseases [RCV003245430] Chr18:48040714 [GRCh38]
Chr18:45567085 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001318841.2(ZBTB7C):c.1685C>T (p.Ala562Val) single nucleotide variant not provided [RCV000897506] Chr18:48029435 [GRCh38]
Chr18:45555806 [GRCh37]
Chr18:18q21.1
benign
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_001318841.2(ZBTB7C):c.493G>A (p.Asp165Asn) single nucleotide variant Inborn genetic diseases [RCV003252360] Chr18:48040615 [GRCh38]
Chr18:45566986 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.993C>T (p.Tyr331=) single nucleotide variant not provided [RCV000905018] Chr18:48040115 [GRCh38]
Chr18:45566486 [GRCh37]
Chr18:18q21.1
benign
NM_001318841.2(ZBTB7C):c.1743C>T (p.Asn581=) single nucleotide variant not provided [RCV000974648] Chr18:48029377 [GRCh38]
Chr18:45555748 [GRCh37]
Chr18:18q21.1
benign|likely benign
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
NM_001318841.2(ZBTB7C):c.1662A>G (p.Thr554=) single nucleotide variant not provided [RCV001686114] Chr18:48029458 [GRCh38]
Chr18:45555829 [GRCh37]
Chr18:18q21.1
benign
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001318841.2(ZBTB7C):c.1351G>A (p.Glu451Lys) single nucleotide variant Inborn genetic diseases [RCV002682456] Chr18:48029769 [GRCh38]
Chr18:45556140 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.481G>A (p.Glu161Lys) single nucleotide variant Inborn genetic diseases [RCV002772638] Chr18:48040627 [GRCh38]
Chr18:45566998 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.326A>G (p.Asn109Ser) single nucleotide variant Inborn genetic diseases [RCV002689491] Chr18:48040782 [GRCh38]
Chr18:45567153 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.220G>A (p.Val74Ile) single nucleotide variant Inborn genetic diseases [RCV002945649] Chr18:48040888 [GRCh38]
Chr18:45567259 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.539C>T (p.Pro180Leu) single nucleotide variant Inborn genetic diseases [RCV002773310] Chr18:48040569 [GRCh38]
Chr18:45566940 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.808C>A (p.Leu270Met) single nucleotide variant Inborn genetic diseases [RCV002906046] Chr18:48040300 [GRCh38]
Chr18:45566671 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.483G>T (p.Glu161Asp) single nucleotide variant Inborn genetic diseases [RCV002972844] Chr18:48040625 [GRCh38]
Chr18:45566996 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1799C>T (p.Ala600Val) single nucleotide variant Inborn genetic diseases [RCV002762487] Chr18:48029321 [GRCh38]
Chr18:45555692 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.994G>A (p.Gly332Ser) single nucleotide variant Inborn genetic diseases [RCV002845261] Chr18:48040114 [GRCh38]
Chr18:45566485 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1792G>A (p.Gly598Ser) single nucleotide variant Inborn genetic diseases [RCV002645180] Chr18:48029328 [GRCh38]
Chr18:45555699 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.364G>A (p.Val122Met) single nucleotide variant Inborn genetic diseases [RCV002874621] Chr18:48040744 [GRCh38]
Chr18:45567115 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1735G>A (p.Ala579Thr) single nucleotide variant Inborn genetic diseases [RCV002984040] Chr18:48029385 [GRCh38]
Chr18:45555756 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1073T>C (p.Leu358Pro) single nucleotide variant Inborn genetic diseases [RCV002763637] Chr18:48040035 [GRCh38]
Chr18:45566406 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1454C>G (p.Ala485Gly) single nucleotide variant Inborn genetic diseases [RCV002941467] Chr18:48029666 [GRCh38]
Chr18:45556037 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1681C>T (p.Arg561Cys) single nucleotide variant Inborn genetic diseases [RCV002668582] Chr18:48029439 [GRCh38]
Chr18:45555810 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1481G>A (p.Gly494Glu) single nucleotide variant Inborn genetic diseases [RCV002960927] Chr18:48029639 [GRCh38]
Chr18:45556010 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1585A>G (p.Ser529Gly) single nucleotide variant Inborn genetic diseases [RCV002959425] Chr18:48029535 [GRCh38]
Chr18:45555906 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.622C>T (p.Pro208Ser) single nucleotide variant Inborn genetic diseases [RCV003277913] Chr18:48040486 [GRCh38]
Chr18:45566857 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.889C>G (p.Leu297Val) single nucleotide variant Inborn genetic diseases [RCV003174580] Chr18:48040219 [GRCh38]
Chr18:45566590 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.980C>T (p.Ala327Val) single nucleotide variant Inborn genetic diseases [RCV003192048] Chr18:48040128 [GRCh38]
Chr18:45566499 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1510G>A (p.Ala504Thr) single nucleotide variant Inborn genetic diseases [RCV003174956] Chr18:48029610 [GRCh38]
Chr18:45555981 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.1160C>G (p.Thr387Ser) single nucleotide variant Inborn genetic diseases [RCV003281385] Chr18:48039948 [GRCh38]
Chr18:45566319 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.443A>T (p.Asp148Val) single nucleotide variant Inborn genetic diseases [RCV003208474] Chr18:48040665 [GRCh38]
Chr18:45567036 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.716C>G (p.Ala239Gly) single nucleotide variant Inborn genetic diseases [RCV003305275] Chr18:48040392 [GRCh38]
Chr18:45566763 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_001318841.2(ZBTB7C):c.793G>A (p.Gly265Ser) single nucleotide variant Inborn genetic diseases [RCV003363590] Chr18:48040315 [GRCh38]
Chr18:45566686 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1
pathogenic
NM_001318841.2(ZBTB7C):c.1333G>A (p.Val445Met) single nucleotide variant Inborn genetic diseases [RCV003271035] Chr18:48029787 [GRCh38]
Chr18:45556158 [GRCh37]
Chr18:18q21.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:13068
Count of miRNA genes:959
Interacting mature miRNAs:1154
Transcripts:ENST00000332053, ENST00000535628, ENST00000585404, ENST00000586047, ENST00000586438, ENST00000586525, ENST00000586743, ENST00000587107, ENST00000588028, ENST00000588053, ENST00000588149, ENST00000588566, ENST00000588970, ENST00000588982, ENST00000589077, ENST00000589170, ENST00000589194, ENST00000589619, ENST00000590178, ENST00000590374, ENST00000590437, ENST00000590800, ENST00000590855, ENST00000591279, ENST00000591405, ENST00000591526, ENST00000592387, ENST00000592656, ENST00000593159
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.

Markers in Region
D20S574E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,553,761 - 45,553,999UniSTSGRCh37
Build 361843,807,759 - 43,807,997RGDNCBI36
Celera1842,403,445 - 42,403,683RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,403,458 - 42,403,696UniSTS
SHGC-146679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,591,128 - 45,591,444UniSTSGRCh37
Build 361843,845,126 - 43,845,442RGDNCBI36
Celera1842,440,853 - 42,441,169RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,440,826 - 42,441,142UniSTS
TNG Radiation Hybrid Map1817793.0UniSTS
SHGC-144188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,608,103 - 45,608,445UniSTSGRCh37
Build 361843,862,101 - 43,862,443RGDNCBI36
Celera1842,457,946 - 42,458,288RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,457,801 - 42,458,143UniSTS
TNG Radiation Hybrid Map1817803.0UniSTS
SHGC-154054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,615,225 - 45,615,520UniSTSGRCh37
Build 361843,869,223 - 43,869,518RGDNCBI36
Celera1842,465,067 - 42,465,362RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,464,921 - 42,465,216UniSTS
TNG Radiation Hybrid Map1817803.0UniSTS
SHGC-154857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,612,932 - 45,613,272UniSTSGRCh37
Build 361843,866,930 - 43,867,270RGDNCBI36
Celera1842,462,776 - 42,463,116RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,462,630 - 42,462,970UniSTS


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 pharyngeal arch
High
Medium 247 161 711 97 23 1 1921 11 522 46 335 709 96 56 1327
Low 2045 1717 676 204 456 138 1914 1634 2541 268 1035 786 69 1145 1187 3 2
Below cutoff 123 1032 316 310 903 310 464 525 628 91 53 55 7 1 3 274 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001039360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM988836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM988837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM988838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM988839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM989332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM991970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM998489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM983365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD366839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF120357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU669438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000535628   ⟹   ENSP00000439781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,026,673 - 48,137,361 (-)Ensembl
RefSeq Acc Id: ENST00000585404   ⟹   ENSP00000464724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,338,391 (-)Ensembl
RefSeq Acc Id: ENST00000586047   ⟹   ENSP00000466944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,052 - 48,203,601 (-)Ensembl
RefSeq Acc Id: ENST00000586438   ⟹   ENSP00000468254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,026,673 - 48,165,566 (-)Ensembl
RefSeq Acc Id: ENST00000586525   ⟹   ENSP00000468537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000586743   ⟹   ENSP00000466006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,338,391 (-)Ensembl
RefSeq Acc Id: ENST00000587107   ⟹   ENSP00000465760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000588028   ⟹   ENSP00000468152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: ENST00000588053   ⟹   ENSP00000466088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,052 - 48,375,586 (-)Ensembl
RefSeq Acc Id: ENST00000588149   ⟹   ENSP00000468814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,052 - 48,410,752 (-)Ensembl
RefSeq Acc Id: ENST00000588566   ⟹   ENSP00000467456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: ENST00000588970   ⟹   ENSP00000468502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000588982   ⟹   ENSP00000468782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,026,673 - 48,165,566 (-)Ensembl
RefSeq Acc Id: ENST00000589077   ⟹   ENSP00000467147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,338,391 (-)Ensembl
RefSeq Acc Id: ENST00000589170   ⟹   ENSP00000467338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: ENST00000589194   ⟹   ENSP00000468019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000589619   ⟹   ENSP00000468659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,338,391 (-)Ensembl
RefSeq Acc Id: ENST00000590178   ⟹   ENSP00000465160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,052 - 48,375,625 (-)Ensembl
RefSeq Acc Id: ENST00000590374   ⟹   ENSP00000465494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: ENST00000590437   ⟹   ENSP00000467323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,040,908 - 48,165,331 (-)Ensembl
RefSeq Acc Id: ENST00000590800   ⟹   ENSP00000467877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,026,672 - 48,409,383 (-)Ensembl
RefSeq Acc Id: ENST00000590855   ⟹   ENSP00000468306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000591279   ⟹   ENSP00000465265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000591405   ⟹   ENSP00000467758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,052 - 48,375,608 (-)Ensembl
RefSeq Acc Id: ENST00000591526   ⟹   ENSP00000468752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: ENST00000592387   ⟹   ENSP00000465835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,409,292 (-)Ensembl
RefSeq Acc Id: ENST00000592656   ⟹   ENSP00000468087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,033 - 48,338,391 (-)Ensembl
RefSeq Acc Id: ENST00000593159   ⟹   ENSP00000465832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,041,063 - 48,375,564 (-)Ensembl
RefSeq Acc Id: NM_001039360   ⟹   NP_001034449
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,137,148 (-)NCBI
GRCh371845,553,043 - 45,935,793 (-)NCBI
Build 361843,807,731 - 43,821,492 (-)NCBI Archive
Celera1842,403,417 - 42,417,178 (-)RGD
HuRef1842,403,336 - 42,513,346 (-)ENTREZGENE
CHM1_11845,548,625 - 45,659,345 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,328,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318841   ⟹   NP_001305770
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
CHM1_11845,548,625 - 45,931,434 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371284   ⟹   NP_001358213
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371285   ⟹   NP_001358214
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371286   ⟹   NP_001358215
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371287   ⟹   NP_001358216
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,412,585 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,603,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371288   ⟹   NP_001358217
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,193,926 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,385,050 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371290   ⟹   NP_001358219
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,375,627 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,566,783 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371291   ⟹   NP_001358220
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,375,627 (-)NCBI
T2T-CHM13v2.01848,217,704 - 48,566,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525864   ⟹   XP_011524166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525865   ⟹   XP_011524167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,408,759 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025606   ⟹   XP_016881095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,408,759 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025609   ⟹   XP_016881098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,408,759 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437344   ⟹   XP_047293300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,193,926 (-)NCBI
RefSeq Acc Id: XM_047437345   ⟹   XP_047293301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
RefSeq Acc Id: XM_047437346   ⟹   XP_047293302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
RefSeq Acc Id: XM_047437347   ⟹   XP_047293303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
RefSeq Acc Id: XM_047437348   ⟹   XP_047293304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,026,672 - 48,409,383 (-)NCBI
RefSeq Acc Id: XM_054318273   ⟹   XP_054174248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,385,050 (-)NCBI
RefSeq Acc Id: XM_054318274   ⟹   XP_054174249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
RefSeq Acc Id: XM_054318275   ⟹   XP_054174250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
RefSeq Acc Id: XM_054318276   ⟹   XP_054174251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
RefSeq Acc Id: XM_054318277   ⟹   XP_054174252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
RefSeq Acc Id: XM_054318278   ⟹   XP_054174253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,599,867 (-)NCBI
RefSeq Acc Id: XM_054318279   ⟹   XP_054174254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,599,867 (-)NCBI
RefSeq Acc Id: XM_054318280   ⟹   XP_054174255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,600,491 (-)NCBI
RefSeq Acc Id: XM_054318281   ⟹   XP_054174256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,217,704 - 48,599,867 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001034449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305770 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358213 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358214 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358215 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358216 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358217 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358219 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358220 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524166 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524167 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881095 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881098 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293300 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293301 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293302 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293303 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174256 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A1YPR0 (Get FASTA)   NCBI Sequence Viewer  
  ABL98073 (Get FASTA)   NCBI Sequence Viewer  
  ACD63426 (Get FASTA)   NCBI Sequence Viewer  
  BAG59302 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43041 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43042 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43043 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43044 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43089 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43090 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43091 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43092 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43093 (Get FASTA)   NCBI Sequence Viewer  
  CAQ43094 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51259 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51260 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51261 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51262 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51263 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51264 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51265 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51266 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51267 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51268 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51321 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51322 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51323 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51324 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51325 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51326 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51327 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51328 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51329 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51330 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51331 (Get FASTA)   NCBI Sequence Viewer  
  CAQ51332 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53083 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53084 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53085 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53086 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53087 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53088 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53089 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53090 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53091 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53092 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53093 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53094 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53095 (Get FASTA)   NCBI Sequence Viewer  
  CAQ53096 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43051 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000439781
  ENSP00000439781.1
  ENSP00000464724.1
  ENSP00000465160.1
  ENSP00000465265.1
  ENSP00000465494.1
  ENSP00000465760.1
  ENSP00000465832.1
  ENSP00000465835.1
  ENSP00000466006.1
  ENSP00000466088.1
  ENSP00000466944.1
  ENSP00000467147.1
  ENSP00000467323.1
  ENSP00000467338.1
  ENSP00000467456.1
  ENSP00000467758.1
  ENSP00000467877
  ENSP00000467877.1
  ENSP00000468019.1
  ENSP00000468087.1
  ENSP00000468152.1
  ENSP00000468254.1
  ENSP00000468306.1
  ENSP00000468502.1
  ENSP00000468537.1
  ENSP00000468659.1
  ENSP00000468752.1
  ENSP00000468782
  ENSP00000468782.1
  ENSP00000468814.1
RefSeq Acc Id: NP_001034449   ⟸   NM_001039360
- UniProtKB: O73453 (UniProtKB/Swiss-Prot),   A1YPR0 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524166   ⟸   XM_011525864
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524167   ⟸   XM_011525865
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001305770   ⟸   NM_001318841
- UniProtKB: O73453 (UniProtKB/Swiss-Prot),   A1YPR0 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881095   ⟸   XM_017025606
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881098   ⟸   XM_017025609
- Peptide Label: isoform X4
- UniProtKB: O73453 (UniProtKB/Swiss-Prot),   A1YPR0 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358216   ⟸   NM_001371287
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358214   ⟸   NM_001371285
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358213   ⟸   NM_001371284
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358215   ⟸   NM_001371286
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358220   ⟸   NM_001371291
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358219   ⟸   NM_001371290
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358217   ⟸   NM_001371288
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000464724   ⟸   ENST00000585404
RefSeq Acc Id: ENSP00000466944   ⟸   ENST00000586047
RefSeq Acc Id: ENSP00000466006   ⟸   ENST00000586743
RefSeq Acc Id: ENSP00000468537   ⟸   ENST00000586525
RefSeq Acc Id: ENSP00000468254   ⟸   ENST00000586438
RefSeq Acc Id: ENSP00000465760   ⟸   ENST00000587107
RefSeq Acc Id: ENSP00000466088   ⟸   ENST00000588053
RefSeq Acc Id: ENSP00000468152   ⟸   ENST00000588028
RefSeq Acc Id: ENSP00000468814   ⟸   ENST00000588149
RefSeq Acc Id: ENSP00000439781   ⟸   ENST00000535628
RefSeq Acc Id: ENSP00000468502   ⟸   ENST00000588970
RefSeq Acc Id: ENSP00000467456   ⟸   ENST00000588566
RefSeq Acc Id: ENSP00000468782   ⟸   ENST00000588982
RefSeq Acc Id: ENSP00000468019   ⟸   ENST00000589194
RefSeq Acc Id: ENSP00000467338   ⟸   ENST00000589170
RefSeq Acc Id: ENSP00000467147   ⟸   ENST00000589077
RefSeq Acc Id: ENSP00000468659   ⟸   ENST00000589619
RefSeq Acc Id: ENSP00000465494   ⟸   ENST00000590374
RefSeq Acc Id: ENSP00000465160   ⟸   ENST00000590178
RefSeq Acc Id: ENSP00000467877   ⟸   ENST00000590800
RefSeq Acc Id: ENSP00000467323   ⟸   ENST00000590437
RefSeq Acc Id: ENSP00000468306   ⟸   ENST00000590855
RefSeq Acc Id: ENSP00000468752   ⟸   ENST00000591526
RefSeq Acc Id: ENSP00000467758   ⟸   ENST00000591405
RefSeq Acc Id: ENSP00000465265   ⟸   ENST00000591279
RefSeq Acc Id: ENSP00000468087   ⟸   ENST00000592656
RefSeq Acc Id: ENSP00000465835   ⟸   ENST00000592387
RefSeq Acc Id: ENSP00000465832   ⟸   ENST00000593159
RefSeq Acc Id: XP_047293303   ⟸   XM_047437347
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293302   ⟸   XM_047437346
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293301   ⟸   XM_047437345
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293304   ⟸   XM_047437348
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293300   ⟸   XM_047437344
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174252   ⟸   XM_054318277
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174251   ⟸   XM_054318276
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174249   ⟸   XM_054318274
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174250   ⟸   XM_054318275
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174255   ⟸   XM_054318280
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174256   ⟸   XM_054318281
- Peptide Label: isoform X4
- UniProtKB: A1YPR0 (UniProtKB/Swiss-Prot),   O73453 (UniProtKB/Swiss-Prot),   B2RG49 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174253   ⟸   XM_054318278
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174254   ⟸   XM_054318279
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174248   ⟸   XM_054318273
- Peptide Label: isoform X1
Protein Domains
BTB   C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A1YPR0-F1-model_v2 AlphaFold A1YPR0 1-619 view protein structure

Promoters
RGD ID:7237287
Promoter ID:EPDNEW_H24388
Type:multiple initiation site
Name:ZBTB7C_1
Description:zinc finger and BTB domain containing 7C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24389  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,202,322 - 48,202,382EPDNEW
RGD ID:7237285
Promoter ID:EPDNEW_H24389
Type:initiation region
Name:ZBTB7C_2
Description:zinc finger and BTB domain containing 7C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24388  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,409,383 - 48,409,443EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31700 AgrOrtholog
COSMIC ZBTB7C COSMIC
Ensembl Genes ENSG00000184828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000535628 ENTREZGENE
  ENST00000535628.6 UniProtKB/Swiss-Prot
  ENST00000585404.5 UniProtKB/TrEMBL
  ENST00000586047.5 UniProtKB/TrEMBL
  ENST00000586438.5 UniProtKB/Swiss-Prot
  ENST00000586525.5 UniProtKB/TrEMBL
  ENST00000586743.5 UniProtKB/TrEMBL
  ENST00000587107.5 UniProtKB/TrEMBL
  ENST00000588028.1 UniProtKB/TrEMBL
  ENST00000588053.5 UniProtKB/TrEMBL
  ENST00000588149.5 UniProtKB/TrEMBL
  ENST00000588566.5 UniProtKB/TrEMBL
  ENST00000588970.5 UniProtKB/TrEMBL
  ENST00000588982 ENTREZGENE
  ENST00000588982.5 UniProtKB/Swiss-Prot
  ENST00000589077.5 UniProtKB/TrEMBL
  ENST00000589170.5 UniProtKB/TrEMBL
  ENST00000589194.5 UniProtKB/TrEMBL
  ENST00000589619.5 UniProtKB/TrEMBL
  ENST00000590178.5 UniProtKB/TrEMBL
  ENST00000590374.5 UniProtKB/TrEMBL
  ENST00000590437.5 UniProtKB/TrEMBL
  ENST00000590800 ENTREZGENE
  ENST00000590800.6 UniProtKB/Swiss-Prot
  ENST00000590855.5 UniProtKB/TrEMBL
  ENST00000591279.5 UniProtKB/TrEMBL
  ENST00000591405.5 UniProtKB/TrEMBL
  ENST00000591526.5 UniProtKB/TrEMBL
  ENST00000592387.5 UniProtKB/TrEMBL
  ENST00000592656.5 UniProtKB/TrEMBL
  ENST00000593159.5 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184828 GTEx
HGNC ID HGNC:31700 ENTREZGENE
Human Proteome Map ZBTB7C Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:201501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 201501 ENTREZGENE
OMIM 616591 OMIM
PANTHER AGAP004733-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER AND BTB DOMAIN-CONTAINING PROTEIN 7C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861865 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GXF8_HUMAN UniProtKB/TrEMBL
  A1YPR0 ENTREZGENE
  B2RG49 ENTREZGENE, UniProtKB/TrEMBL
  B2RG53_HUMAN UniProtKB/TrEMBL
  B2RG63_HUMAN UniProtKB/TrEMBL
  B2RG76_HUMAN UniProtKB/TrEMBL
  B2RGG0_HUMAN UniProtKB/TrEMBL
  L8E8J6_HUMAN UniProtKB/TrEMBL
  O73453 ENTREZGENE
  ZBT7C_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0A6YYU6 UniProtKB/TrEMBL
  A0A0K0K1A1 UniProtKB/TrEMBL
  K7EPC3 UniProtKB/TrEMBL
  O73453 UniProtKB/Swiss-Prot