CASS4 (Cas scaffold protein family member 4) - Rat Genome Database

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Gene: CASS4 (Cas scaffold protein family member 4) Homo sapiens
Analyze
Symbol: CASS4
Name: Cas scaffold protein family member 4
RGD ID: 1321668
HGNC Page HGNC:15878
Description: Enables protein tyrosine kinase binding activity. Involved in positive regulation of cell migration; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of substrate adhesion-dependent cell spreading. Located in cytoplasm and focal adhesion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C20orf32; cas scaffolding protein family member 4; CAS4; HEF-like protein; HEF1-EFS-p130Cas-like protein; HEFL; HEPL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382056,412,036 - 56,460,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2056,412,112 - 56,460,387 (+)EnsemblGRCh38hg38GRCh38
GRCh372054,987,092 - 55,035,438 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362054,420,771 - 54,467,243 (+)NCBINCBI36Build 36hg18NCBI36
Build 342054,420,770 - 54,467,243NCBI
Celera2051,727,599 - 51,774,824 (+)NCBICelera
Cytogenetic Map20q13.31NCBI
HuRef2051,772,068 - 51,819,214 (+)NCBIHuRef
CHM1_12054,888,283 - 54,935,521 (+)NCBICHM1_1
T2T-CHM13v2.02058,189,527 - 58,237,872 (+)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
anchoring junction  (IEA)
cytoplasm  (IBA,IDA,IEA,IMP)
cytoskeleton  (IEA)
focal adhesion  (IDA,IEA)
plasma membrane  (IBA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11780052   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18256281   PMID:19380743   PMID:21873635   PMID:23001926   PMID:24162737   PMID:24962474   PMID:25367360  
PMID:26119091   PMID:27677288   PMID:28514442   PMID:29789968   PMID:32296183   PMID:33001583   PMID:33961781   PMID:35509820  


Genomics

Comparative Map Data
CASS4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382056,412,036 - 56,460,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2056,412,112 - 56,460,387 (+)EnsemblGRCh38hg38GRCh38
GRCh372054,987,092 - 55,035,438 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362054,420,771 - 54,467,243 (+)NCBINCBI36Build 36hg18NCBI36
Build 342054,420,770 - 54,467,243NCBI
Celera2051,727,599 - 51,774,824 (+)NCBICelera
Cytogenetic Map20q13.31NCBI
HuRef2051,772,068 - 51,819,214 (+)NCBIHuRef
CHM1_12054,888,283 - 54,935,521 (+)NCBICHM1_1
T2T-CHM13v2.02058,189,527 - 58,237,872 (+)NCBIT2T-CHM13v2.0
Cass4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392172,234,998 - 172,275,672 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2172,235,714 - 172,275,677 (+)EnsemblGRCm39 Ensembl
GRCm382172,393,644 - 172,433,752 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2172,393,794 - 172,433,757 (+)EnsemblGRCm38mm10GRCm38
MGSCv372172,219,294 - 172,258,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362172,084,999 - 172,120,759 (+)NCBIMGSCv36mm8
Celera2178,354,514 - 178,390,720 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map294.85NCBI
Cass4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83181,580,954 - 181,620,945 (+)NCBIGRCr8
mRatBN7.23161,162,520 - 161,202,523 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3161,163,436 - 161,202,186 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3164,973,348 - 165,011,257 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03173,472,367 - 173,510,279 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03171,214,183 - 171,252,098 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03170,398,496 - 170,438,381 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3170,399,302 - 170,438,993 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03176,474,869 - 176,513,806 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43163,305,719 - 163,343,236 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13163,192,753 - 163,249,272 (+)NCBI
Celera3160,363,902 - 160,401,246 (+)NCBICelera
Cytogenetic Map3q42NCBI
Cass4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554452,771,586 - 2,809,952 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554452,771,130 - 2,809,815 (-)NCBIChiLan1.0ChiLan1.0
CASS4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22162,157,220 - 62,207,963 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12062,150,338 - 62,201,081 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02052,749,725 - 52,799,167 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12054,037,046 - 54,084,867 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2054,037,046 - 54,084,867 (+)Ensemblpanpan1.1panPan2
CASS4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12441,621,380 - 41,657,843 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2441,622,430 - 41,657,028 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2440,869,541 - 40,905,385 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02442,332,772 - 42,368,262 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2442,332,007 - 42,420,599 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12441,572,557 - 41,608,151 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02441,711,613 - 41,747,445 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02442,369,588 - 42,405,636 (+)NCBIUU_Cfam_GSD_1.0
Cass4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640183,725,315 - 183,758,787 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936875341,617 - 359,808 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936875344,008 - 359,881 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASS4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1756,991,161 - 57,030,581 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11756,990,774 - 57,032,306 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21764,102,339 - 64,142,463 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CASS4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.127,663,180 - 7,710,687 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl27,661,522 - 7,710,305 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605055,735,651 - 55,784,890 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cass4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479071,144 - 112,829 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479067,895 - 112,980 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASS4
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_001164114.1(CASS4):c.999G>A (p.Arg333=) single nucleotide variant Malignant melanoma [RCV000072710] Chr20:56452337 [GRCh38]
Chr20:55027393 [GRCh37]
Chr20:54460800 [NCBI36]
Chr20:20q13.31		 not provided
NM_001164114.1(CASS4):c.1356C>T (p.Asn452=) single nucleotide variant Malignant melanoma [RCV000063770] Chr20:56452694 [GRCh38]
Chr20:55027750 [GRCh37]
Chr20:54461157 [NCBI36]
Chr20:20q13.31		 not provided
NM_001164114.1(CASS4):c.36+7322G>T single nucleotide variant Lung cancer [RCV000101679] Chr20:56419816 [GRCh38]
Chr20:54994872 [GRCh37]
Chr20:20q13.31		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1 copy number loss See cases [RCV000141033] Chr20:54594888..58190583 [GRCh38]
Chr20:53211427..56765639 [GRCh37]
Chr20:52644834..56199045 [NCBI36]
Chr20:20q13.2-13.32		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3 copy number gain See cases [RCV000511263] Chr20:54541125..55162415 [GRCh37]
Chr20:20q13.2-13.31		 uncertain significance
NM_020356.4(CASS4):c.1354G>A (p.Val452Ile) single nucleotide variant not specified [RCV004313860] Chr20:56452530 [GRCh38]
Chr20:55027586 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1129G>A (p.Ala377Thr) single nucleotide variant not specified [RCV004303170] Chr20:56452305 [GRCh38]
Chr20:55027361 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.1768C>T (p.Arg590Trp) single nucleotide variant not specified [RCV004301193] Chr20:56452944 [GRCh38]
Chr20:55028000 [GRCh37]
Chr20:20q13.31		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.31(chr20:55015531-55018532)x1 copy number loss not provided [RCV000741274] Chr20:55015531..55018532 [GRCh37]
Chr20:20q13.31		 benign
GRCh37/hg19 20q13.31(chr20:55017124-55018532)x1 copy number loss not provided [RCV000741275] Chr20:55017124..55018532 [GRCh37]
Chr20:20q13.31		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020356.4(CASS4):c.1472G>A (p.Arg491Lys) single nucleotide variant not provided [RCV000971166] Chr20:56452648 [GRCh38]
Chr20:55027704 [GRCh37]
Chr20:20q13.31		 benign
NM_020356.4(CASS4):c.213C>T (p.Leu71=) single nucleotide variant not provided [RCV000959627] Chr20:56437340 [GRCh38]
Chr20:55012396 [GRCh37]
Chr20:20q13.31		 benign
NM_020356.4(CASS4):c.1583G>T (p.Arg528Leu) single nucleotide variant not provided [RCV000958781] Chr20:56452759 [GRCh38]
Chr20:55027815 [GRCh37]
Chr20:20q13.31		 likely benign
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_020356.4(CASS4):c.2114A>G (p.Gln705Arg) single nucleotide variant not specified [RCV004291759] Chr20:56458500 [GRCh38]
Chr20:55033556 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1232C>G (p.Ser411Cys) single nucleotide variant not provided [RCV000903584] Chr20:56452408 [GRCh38]
Chr20:55027464 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.1277C>T (p.Ser426Leu) single nucleotide variant not provided [RCV000958094] Chr20:56452453 [GRCh38]
Chr20:55027509 [GRCh37]
Chr20:20q13.31		 benign
NM_020356.4(CASS4):c.1806A>G (p.Pro602=) single nucleotide variant not provided [RCV000935104] Chr20:56452982 [GRCh38]
Chr20:55028038 [GRCh37]
Chr20:20q13.31		 likely benign
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del deletion not provided [RCV001900543] Chr20:54823900..57899514 [GRCh37]
Chr20:20q13.2-13.32		 uncertain significance
NM_020356.4(CASS4):c.2110A>G (p.Thr704Ala) single nucleotide variant not specified [RCV004303898] Chr20:56458496 [GRCh38]
Chr20:55033552 [GRCh37]
Chr20:20q13.31		 uncertain significance
GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3 copy number gain not provided [RCV002474915] Chr20:52517925..55402822 [GRCh37]
Chr20:20q13.2-13.31		 uncertain significance
NM_020356.4(CASS4):c.245C>A (p.Pro82Gln) single nucleotide variant not specified [RCV004206964] Chr20:56437372 [GRCh38]
Chr20:55012428 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.2131A>G (p.Met711Val) single nucleotide variant not specified [RCV004171422] Chr20:56458517 [GRCh38]
Chr20:55033573 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.737C>T (p.Thr246Ile) single nucleotide variant not specified [RCV004235938] Chr20:56451913 [GRCh38]
Chr20:55026969 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.2318A>G (p.Lys773Arg) single nucleotide variant not specified [RCV004138231] Chr20:56458704 [GRCh38]
Chr20:55033760 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.826A>G (p.Ser276Gly) single nucleotide variant not specified [RCV004214221] Chr20:56452002 [GRCh38]
Chr20:55027058 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.797A>C (p.Glu266Ala) single nucleotide variant not specified [RCV004120213] Chr20:56451973 [GRCh38]
Chr20:55027029 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1843C>T (p.Pro615Ser) single nucleotide variant not specified [RCV004109608] Chr20:56453019 [GRCh38]
Chr20:55028075 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1529G>A (p.Ser510Asn) single nucleotide variant not specified [RCV004126505] Chr20:56452705 [GRCh38]
Chr20:55027761 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.626C>G (p.Pro209Arg) single nucleotide variant not specified [RCV004194268] Chr20:56450663 [GRCh38]
Chr20:55025719 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.2091C>G (p.Ser697Arg) single nucleotide variant not specified [RCV004240705] Chr20:56458477 [GRCh38]
Chr20:55033533 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.2335C>T (p.Arg779Trp) single nucleotide variant not specified [RCV004158663] Chr20:56458721 [GRCh38]
Chr20:55033777 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.47C>A (p.Ala16Asp) single nucleotide variant not specified [RCV004131001] Chr20:56437174 [GRCh38]
Chr20:55012230 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.773C>T (p.Thr258Met) single nucleotide variant not specified [RCV004203072] Chr20:56451949 [GRCh38]
Chr20:55027005 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1583G>A (p.Arg528His) single nucleotide variant not specified [RCV004205786] Chr20:56452759 [GRCh38]
Chr20:55027815 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1067C>T (p.Thr356Met) single nucleotide variant not specified [RCV004137977] Chr20:56452243 [GRCh38]
Chr20:55027299 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.1274C>T (p.Ser425Phe) single nucleotide variant not specified [RCV004099533] Chr20:56452450 [GRCh38]
Chr20:55027506 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.16A>G (p.Ile6Val) single nucleotide variant not specified [RCV004183669] Chr20:56412474 [GRCh38]
Chr20:54987530 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.832A>G (p.Thr278Ala) single nucleotide variant not specified [RCV004135303] Chr20:56452008 [GRCh38]
Chr20:55027064 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.2065G>A (p.Ala689Thr) single nucleotide variant Inborn genetic diseases [RCV002963617] Chr20:56458451 [GRCh38]
Chr20:55033507 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1314T>A (p.Asp438Glu) single nucleotide variant not specified [RCV004314435] Chr20:56452490 [GRCh38]
Chr20:55027546 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.662T>C (p.Ile221Thr) single nucleotide variant not specified [RCV004269159] Chr20:56451838 [GRCh38]
Chr20:55026894 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.550G>A (p.Val184Met) single nucleotide variant not specified [RCV004308739] Chr20:56445990 [GRCh38]
Chr20:55021046 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.200G>A (p.Arg67His) single nucleotide variant not specified [RCV004281122] Chr20:56437327 [GRCh38]
Chr20:55012383 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.791C>T (p.Ala264Val) single nucleotide variant not specified [RCV004292377] Chr20:56451967 [GRCh38]
Chr20:55027023 [GRCh37]
Chr20:20q13.31		 likely benign
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_020356.4(CASS4):c.709C>A (p.Pro237Thr) single nucleotide variant not specified [RCV004356863] Chr20:56451885 [GRCh38]
Chr20:55026941 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.313C>T (p.Arg105Cys) single nucleotide variant not specified [RCV004341835] Chr20:56437440 [GRCh38]
Chr20:55012496 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.118A>G (p.Ile40Val) single nucleotide variant not specified [RCV004364940] Chr20:56437245 [GRCh38]
Chr20:55012301 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.353G>A (p.Ser118Asn) single nucleotide variant not specified [RCV004429998] Chr20:56437480 [GRCh38]
Chr20:55012536 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1582C>G (p.Arg528Gly) single nucleotide variant not specified [RCV004429993] Chr20:56452758 [GRCh38]
Chr20:55027814 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1738G>A (p.Val580Ile) single nucleotide variant not specified [RCV004429995] Chr20:56452914 [GRCh38]
Chr20:55027970 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.763G>A (p.Val255Ile) single nucleotide variant not specified [RCV004430000] Chr20:56451939 [GRCh38]
Chr20:55026995 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.842A>G (p.Asn281Ser) single nucleotide variant not specified [RCV004430001] Chr20:56452018 [GRCh38]
Chr20:55027074 [GRCh37]
Chr20:20q13.31		 likely benign
NM_020356.4(CASS4):c.1935G>C (p.Arg645Ser) single nucleotide variant not specified [RCV004429996] Chr20:56453111 [GRCh38]
Chr20:55028167 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.883A>T (p.Asn295Tyr) single nucleotide variant not specified [RCV004430002] Chr20:56452059 [GRCh38]
Chr20:55027115 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1335G>A (p.Met445Ile) single nucleotide variant not specified [RCV004429992] Chr20:56452511 [GRCh38]
Chr20:55027567 [GRCh37]
Chr20:20q13.31		 uncertain significance
NM_020356.4(CASS4):c.1703T>G (p.Met568Arg) single nucleotide variant not specified [RCV004429994] Chr20:56452879 [GRCh38]
Chr20:55027935 [GRCh37]
Chr20:20q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1276
Count of miRNA genes:536
Interacting mature miRNAs:594
Transcripts:ENST00000360314, ENST00000371336, ENST00000434344, ENST00000497244
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
SHGC-85749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372054,987,600 - 54,987,936UniSTSGRCh37
Build 362054,421,007 - 54,421,343RGDNCBI36
Celera2051,728,031 - 51,728,367RGD
Cytogenetic Map20q13.31UniSTS
HuRef2051,772,500 - 51,772,836UniSTS
TNG Radiation Hybrid Map2025443.0UniSTS
D20S775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372055,013,390 - 55,013,520UniSTSGRCh37
Build 362054,446,797 - 54,446,927RGDNCBI36
Celera2051,753,820 - 51,753,950RGD
Cytogenetic Map20q13.31UniSTS
HuRef2051,798,288 - 51,798,418UniSTS
Stanford-G3 RH Map202697.0UniSTS
NCBI RH Map20564.0UniSTS
D20S777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372055,031,036 - 55,031,169UniSTSGRCh37
Build 362054,464,443 - 54,464,576RGDNCBI36
Celera2051,771,466 - 51,771,599RGD
Cytogenetic Map20q13.31UniSTS
HuRef2051,815,856 - 51,815,989UniSTS
Stanford-G3 RH Map202700.0UniSTS
NCBI RH Map20564.9UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 126 162 3 1 11 397 3 1
Low 1788 1716 835 353 1288 283 2187 877 2147 214 825 603 70 1046 1315 1
Below cutoff 627 1140 882 265 434 178 2073 1300 1567 189 604 581 97 155 1468 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001164114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ276678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX280195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA584687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360314   ⟹   ENSP00000353462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2056,412,112 - 56,458,780 (+)Ensembl
RefSeq Acc Id: ENST00000434344   ⟹   ENSP00000410027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2056,412,261 - 56,460,387 (+)Ensembl
RefSeq Acc Id: ENST00000497244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2056,412,308 - 56,453,896 (+)Ensembl
RefSeq Acc Id: ENST00000679529   ⟹   ENSP00000505834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2056,412,393 - 56,459,004 (+)Ensembl
RefSeq Acc Id: ENST00000679887   ⟹   ENSP00000506506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2056,412,260 - 56,460,382 (+)Ensembl
RefSeq Acc Id: NM_001164114   ⟹   NP_001157586
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,260 - 56,460,382 (+)NCBI
GRCh372054,987,168 - 55,034,396 (+)RGD
Celera2051,727,599 - 51,774,824 (+)RGD
HuRef2051,772,068 - 51,819,214 (+)RGD
CHM1_12054,888,429 - 54,935,521 (+)NCBI
T2T-CHM13v2.02058,189,751 - 58,237,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164115   ⟹   NP_001157587
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,260 - 56,460,382 (+)NCBI
GRCh372054,987,168 - 55,034,396 (+)RGD
Celera2051,727,599 - 51,774,824 (+)RGD
HuRef2051,772,068 - 51,819,214 (+)RGD
CHM1_12054,888,429 - 54,935,521 (+)NCBI
T2T-CHM13v2.02058,189,751 - 58,237,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164116   ⟹   NP_001157588
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,036 - 56,460,382 (+)NCBI
GRCh372054,987,168 - 55,034,396 (+)RGD
Celera2051,727,599 - 51,774,824 (+)RGD
HuRef2051,772,068 - 51,819,214 (+)RGD
CHM1_12054,888,283 - 54,935,521 (+)NCBI
T2T-CHM13v2.02058,189,527 - 58,237,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020356   ⟹   NP_065089
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,260 - 56,460,382 (+)NCBI
GRCh372054,987,168 - 55,034,396 (+)RGD
Build 362054,420,771 - 54,467,243 (+)NCBI Archive
Celera2051,727,599 - 51,774,824 (+)RGD
HuRef2051,772,068 - 51,819,214 (+)RGD
CHM1_12054,888,429 - 54,935,521 (+)NCBI
T2T-CHM13v2.02058,189,751 - 58,237,872 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723831   ⟹   XP_006723894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,036 - 56,460,382 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054323724   ⟹   XP_054179699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02058,189,527 - 58,237,872 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001157588   ⟸   NM_001164116
- Peptide Label: isoform a
- UniProtKB: Q96K09 (UniProtKB/Swiss-Prot),   Q5QPD6 (UniProtKB/Swiss-Prot),   E1P5Z8 (UniProtKB/Swiss-Prot),   Q9BYL5 (UniProtKB/Swiss-Prot),   Q9NQ75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065089   ⟸   NM_020356
- Peptide Label: isoform a
- UniProtKB: Q96K09 (UniProtKB/Swiss-Prot),   Q5QPD6 (UniProtKB/Swiss-Prot),   E1P5Z8 (UniProtKB/Swiss-Prot),   Q9BYL5 (UniProtKB/Swiss-Prot),   Q9NQ75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157586   ⟸   NM_001164114
- Peptide Label: isoform b
- UniProtKB: B4DII4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157587   ⟸   NM_001164115
- Peptide Label: isoform c
- UniProtKB: Q9NQ75 (UniProtKB/Swiss-Prot),   B4DII4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006723894   ⟸   XM_006723831
- Peptide Label: isoform X1
- UniProtKB: B4DII4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000353462   ⟸   ENST00000360314
RefSeq Acc Id: ENSP00000410027   ⟸   ENST00000434344
RefSeq Acc Id: ENSP00000506506   ⟸   ENST00000679887
RefSeq Acc Id: ENSP00000505834   ⟸   ENST00000679529
RefSeq Acc Id: XP_054179699   ⟸   XM_054323724
- Peptide Label: isoform X1
- UniProtKB: B4DII4 (UniProtKB/TrEMBL)
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQ75-F1-model_v2 AlphaFold Q9NQ75 1-786 view protein structure

Promoters
RGD ID:6798583
Promoter ID:HG_KWN:39899
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164114,   NM_001164115,   NM_001164116,   NM_020356,   OTTHUMT00000079791
Position:
Human AssemblyChrPosition (strand)Source
Build 362054,420,441 - 54,420,941 (+)MPROMDB
RGD ID:13602160
Promoter ID:EPDNEW_H27264
Type:initiation region
Name:CASS4_3
Description:Cas scaffolding protein family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27265  EPDNEW_H27266  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,038 - 56,412,098EPDNEW
RGD ID:13602162
Promoter ID:EPDNEW_H27265
Type:initiation region
Name:CASS4_1
Description:Cas scaffolding protein family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27264  EPDNEW_H27266  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,267 - 56,412,327EPDNEW
RGD ID:13602164
Promoter ID:EPDNEW_H27266
Type:initiation region
Name:CASS4_2
Description:Cas scaffolding protein family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27264  EPDNEW_H27265  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382056,412,448 - 56,412,508EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15878 AgrOrtholog
COSMIC CASS4 COSMIC
Ensembl Genes ENSG00000087589 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000360314 ENTREZGENE
  ENST00000360314.7 UniProtKB/Swiss-Prot
  ENST00000434344 ENTREZGENE
  ENST00000434344.2 UniProtKB/Swiss-Prot
  ENST00000679529 ENTREZGENE
  ENST00000679529.1 UniProtKB/TrEMBL
  ENST00000679887 ENTREZGENE
  ENST00000679887.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.830 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-catenin/vinculin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087589 GTEx
HGNC ID HGNC:15878 ENTREZGENE
Human Proteome Map CASS4 Human Proteome Map
InterPro CAS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAS_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASS4_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57091 ENTREZGENE
OMIM 618888 OMIM
PANTHER PTHR10654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10654:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381095 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DII4 ENTREZGENE, UniProtKB/TrEMBL
  CASS4_HUMAN UniProtKB/Swiss-Prot
  E1P5Z8 ENTREZGENE
  Q5QPD6 ENTREZGENE
  Q96K09 ENTREZGENE
  Q9BYL5 ENTREZGENE
  Q9NQ75 ENTREZGENE
UniProt Secondary E1P5Z8 UniProtKB/Swiss-Prot
  Q5QPD6 UniProtKB/Swiss-Prot
  Q96K09 UniProtKB/Swiss-Prot
  Q9BYL5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-06 CASS4  Cas scaffold protein family member 4    Cas scaffolding protein family member 4  Symbol and/or name change 5135510 APPROVED