SCX (scleraxis bHLH transcription factor) - Rat Genome Database

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Gene: SCX (scleraxis bHLH transcription factor) Homo sapiens
Analyze
Symbol: SCX
Name: scleraxis bHLH transcription factor
RGD ID: 1625822
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and bHLH transcription factor binding activity. Contributes to E-box binding activity. Involved in positive regulation of transcription by RNA polymerase II. Localizes to nucleus and transcription regulator complex; INTERACTS WITH 17beta-estradiol; resveratrol; valproic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: basic helix-loop-helix transcription factor scleraxis; bHLHa41; bHLHa48; bHLHa48; class A basic helix-loop-helix protein 41; class A basic helix-loop-helix protein 48; class II bHLH protein scleraxis; scleraxis basic helix-loop-helix transcription factor; scleraxis homolog A; scleraxis homolog A (mouse); scleraxis homolog B; SCXA; SCXB
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
NCBI Annotation Information: Note: In the NCBI Build GRCh37 reference assembly SCXA and SCXB are duplicate genes in close proximity to each other on chromosome 8. In August, 2010 the Genome Reference Consortium determined that the region contains a duplication error. The clone on which SCXA was based (AC110280.8) was be removed from the GRCh38 reference assembly and SCXB was retained and renamed to SCX. [27 Sep 2015]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,266,453 - 144,268,481 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,265,060 - 144,268,483 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,321,356 - 145,323,384 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,393,505 - 145,395,033 (+)NCBINCBI36hg18NCBI36
Celera8141,665,524 - 141,666,939 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,605,530 - 140,607,095 (+)NCBIHuRef
CHM1_18145,595,226 - 145,596,688 (+)NCBICHM1_1
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

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9050988   PMID:10775504   PMID:11585810   PMID:12107412   PMID:12617822   PMID:12837285   PMID:15338228   PMID:16421571   PMID:17129431   PMID:19087640   PMID:19362560   PMID:19828133  
PMID:21424732   PMID:21873635   PMID:21988170   PMID:22796342   PMID:24157418   PMID:26851078   PMID:29750994   PMID:29906225   PMID:32027517   PMID:32183051   PMID:32296183   PMID:32708589  


Genomics

Comparative Map Data
SCX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,266,453 - 144,268,481 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,265,060 - 144,268,483 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,321,356 - 145,323,384 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,393,505 - 145,395,033 (+)NCBINCBI36hg18NCBI36
Celera8141,665,524 - 141,666,939 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,605,530 - 140,607,095 (+)NCBIHuRef
CHM1_18145,595,226 - 145,596,688 (+)NCBICHM1_1
Scx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,341,594 - 76,343,668 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,341,652 - 76,343,658 (+)Ensembl
GRCm381576,457,411 - 76,459,468 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,457,452 - 76,459,458 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,287,868 - 76,289,898 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,284,693 - 76,286,716 (+)NCBImm8
Celera1577,957,869 - 77,959,899 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.92NCBI
Scx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,176,608 - 108,178,626 (+)NCBI
Rnor_6.0 Ensembl7117,519,075 - 117,521,093 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,519,075 - 117,521,093 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,506,706 - 117,508,724 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,504,701 - 114,506,719 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,528,235 - 104,530,253 (+)NCBICelera
Cytogenetic Map7q34NCBI
Scx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,886,981 - 2,888,829 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,886,981 - 2,888,829 (+)NCBIChiLan1.0ChiLan1.0
SCX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,018,463 - 144,021,487 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08141,027,765 - 141,031,194 (+)NCBIMhudiblu_PPA_v0panPan3
SCX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,701,781 - 37,704,949 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,703,232 - 37,704,657 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,665,396 - 37,668,564 (+)NCBI
ROS_Cfam_1.01338,178,072 - 38,181,239 (+)NCBI
UMICH_Zoey_3.11337,850,219 - 37,853,385 (+)NCBI
UNSW_CanFamBas_1.01337,978,828 - 37,981,997 (+)NCBI
UU_Cfam_GSD_1.01338,455,164 - 38,458,331 (+)NCBI
Scx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364707,966,096 - 7,972,379 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4501,172 - 502,994 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14500,884 - 503,276 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SCX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,476,902 - 138,482,185 (+)NCBI
ChlSab1.1 Ensembl8138,478,458 - 138,480,459 (+)Ensembl
Scx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,579,963 - 12,583,128 (-)NCBI


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 533 649 939 1 103 2 379 296 877 27 357 769 1 14 330
Low 1811 1932 515 403 1043 244 3903 1888 2768 154 890 682 169 1156 2457 4
Below cutoff 6 392 29 28 482 28 30 6 19 1 12 7 32 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000567180   ⟹   ENSP00000476384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,266,453 - 144,268,481 (+)Ensembl
RefSeq Acc Id: NM_001080514   ⟹   NP_001073983
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,266,453 - 144,268,481 (+)NCBI
GRCh378145,321,517 - 145,323,045 (+)RGD
Build 368145,393,505 - 145,395,033 (+)NCBI Archive
Celera8141,665,524 - 141,666,939 (+)RGD
HuRef8140,605,530 - 140,607,095 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716616   ⟹   XP_006716679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,265,060 - 144,268,483 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073983 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716679 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein DAA00239 (Get FASTA)   NCBI Sequence Viewer  
  Q7RTU7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001073983   ⟸   NM_001080514
- UniProtKB: Q7RTU7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716679   ⟸   XM_006716616
- Peptide Label: isoform X1
- UniProtKB: Q7RTU7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000476384   ⟸   ENST00000567180
Protein Domains
bHLH

Promoters
RGD ID:7214443
Promoter ID:EPDNEW_H12968
Type:initiation region
Name:SCX_1
Description:scleraxis bHLH transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,266,542 - 144,266,602EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144132479-144277712)x3 copy number gain See cases [RCV000140817] Chr8:144132479..144277712 [GRCh38]
Chr8:145319810..145493555 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32322 AgrOrtholog
COSMIC SCX COSMIC
Ensembl Genes ENSG00000260428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000476384 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000567180 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000260428 GTEx
HGNC ID HGNC:32322 ENTREZGENE
Human Proteome Map SCX Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:642658 UniProtKB/Swiss-Prot
NCBI Gene 642658 ENTREZGENE
OMIM 609067 OMIM
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA142670943 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt Q7RTU7 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 SCX  scleraxis bHLH transcription factor  SCXA  scleraxis homolog A (mouse)  Data Merged 737654 PROVISIONAL
2015-06-23 SCX  scleraxis bHLH transcription factor    scleraxis basic helix-loop-helix transcription factor  Symbol and/or name change 5135510 APPROVED
2014-07-08 SCX  scleraxis basic helix-loop-helix transcription factor    scleraxis homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2014-06-24 SCX  scleraxis homolog (mouse)  SCXB  scleraxis homolog B (mouse)  Symbol and/or name change 5135510 APPROVED