SAP30 (Sin3A associated protein 30) - Rat Genome Database

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Gene: SAP30 (Sin3A associated protein 30) Homo sapiens
Analyze
Symbol: SAP30
Name: Sin3A associated protein 30
RGD ID: 1354225
HGNC Page HGNC:10532
Description: Enables transcription corepressor activity. Involved in modulation by host of symbiont transcription and negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of histone deacetylase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 30 kDa Sin3-associated polypeptide; histone deacetylase complex subunit SAP30; Sin3 corepressor complex subunit SAP30; sin3-associated polypeptide p30; sin3-associated polypeptide, 30 kDa; Sin3-associated polypeptide, 30kDa; Sin3A associated protein 30kDa; Sin3A-associated protein, 30kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SAP30P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384173,370,954 - 173,377,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4173,369,969 - 173,377,532 (+)EnsemblGRCh38hg38GRCh38
GRCh374174,292,105 - 174,298,683 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364174,528,668 - 174,535,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 344174,666,823 - 174,673,412NCBI
Celera4171,617,185 - 171,623,780 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4170,039,929 - 170,046,600 (+)NCBIHuRef
CHM1_14174,268,541 - 174,275,140 (+)NCBICHM1_1
T2T-CHM13v2.04176,710,356 - 176,716,943 (+)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7889570   PMID:9150135   PMID:9651585   PMID:9702189   PMID:9790534   PMID:9804427   PMID:9874765   PMID:9885572   PMID:10441327   PMID:10444591   PMID:11000236   PMID:11013263  
PMID:11101889   PMID:11102443   PMID:11118440   PMID:11283269   PMID:11390640   PMID:11784859   PMID:12124384   PMID:12453419   PMID:12477932   PMID:12670868   PMID:12724404   PMID:12788099  
PMID:14581478   PMID:15005689   PMID:15235594   PMID:15302935   PMID:15451426   PMID:15489334   PMID:15496587   PMID:16387653   PMID:16449650   PMID:16479010   PMID:16820529   PMID:17081983  
PMID:17672918   PMID:17897615   PMID:18193082   PMID:19015240   PMID:20211142   PMID:20388487   PMID:20478393   PMID:21148318   PMID:21221920   PMID:21258344   PMID:21676866   PMID:21873635  
PMID:22865885   PMID:22984288   PMID:23752268   PMID:24981860   PMID:25189618   PMID:25609649   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26841866   PMID:27609421   PMID:27634302  
PMID:27705803   PMID:27773593   PMID:28481362   PMID:28514442   PMID:28554894   PMID:29844126   PMID:29846670   PMID:29911972   PMID:29955894   PMID:29989576   PMID:30021884   PMID:30804502  
PMID:31091453   PMID:31753913   PMID:32416067   PMID:32694731   PMID:32814053   PMID:33961781   PMID:34026424   PMID:34163012   PMID:35013218   PMID:35205757   PMID:35271311   PMID:35748872  
PMID:35831314   PMID:36302855   PMID:36688959   PMID:37655663   PMID:38154101  


Genomics

Comparative Map Data
SAP30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384173,370,954 - 173,377,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4173,369,969 - 173,377,532 (+)EnsemblGRCh38hg38GRCh38
GRCh374174,292,105 - 174,298,683 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364174,528,668 - 174,535,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 344174,666,823 - 174,673,412NCBI
Celera4171,617,185 - 171,623,780 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4170,039,929 - 170,046,600 (+)NCBIHuRef
CHM1_14174,268,541 - 174,275,140 (+)NCBICHM1_1
T2T-CHM13v2.04176,710,356 - 176,716,943 (+)NCBIT2T-CHM13v2.0
Sap30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39857,935,740 - 57,940,874 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl857,935,741 - 57,940,894 (-)EnsemblGRCm39 Ensembl
GRCm38857,482,702 - 57,487,860 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl857,482,707 - 57,487,860 (-)EnsemblGRCm38mm10GRCm38
MGSCv37859,961,499 - 59,966,657 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36860,374,867 - 60,379,999 (-)NCBIMGSCv36mm8
Celera860,121,756 - 60,126,914 (-)NCBICelera
Cytogenetic Map8B2NCBI
cM Map829.85NCBI
Sap30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81637,758,494 - 37,763,825 (+)NCBIGRCr8
mRatBN7.21632,747,777 - 32,753,114 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1632,747,734 - 32,753,112 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1636,340,519 - 36,345,780 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01639,751,855 - 39,757,120 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01635,971,643 - 35,976,917 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01636,115,942 - 36,121,310 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1636,116,258 - 36,121,097 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01635,925,181 - 35,930,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41636,169,061 - 36,175,458 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1632,686,875 - 32,692,135 (+)NCBICelera
Cytogenetic Map16p11NCBI
Sap30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540333,633,236 - 33,638,983 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540333,633,028 - 33,639,271 (-)NCBIChiLan1.0ChiLan1.0
SAP30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23171,131,113 - 171,137,985 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14171,511,697 - 171,518,922 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04165,598,765 - 165,605,737 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14177,836,967 - 177,843,092 (+)NCBIpanpan1.1PanPan1.1panPan2
SAP30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12523,971,692 - 23,977,481 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2523,971,982 - 23,977,478 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2524,622,551 - 24,628,366 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02524,135,020 - 24,140,861 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2524,135,335 - 24,140,858 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12524,081,285 - 24,087,117 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02523,971,624 - 23,977,439 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02524,121,526 - 24,127,344 (+)NCBIUU_Cfam_GSD_1.0
Sap30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494324,139,083 - 24,204,848 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365164,552,743 - 4,558,928 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365164,553,382 - 4,587,360 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SAP30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1416,673,318 - 16,681,928 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11416,625,893 - 16,681,950 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SAP30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17119,481,790 - 119,488,348 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7119,481,772 - 119,488,354 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603799,503,539 - 99,510,212 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sap30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247694,853,519 - 4,859,967 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247694,854,075 - 4,889,506 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SAP30
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171507504-181381327)x3 copy number gain See cases [RCV000051793] Chr4:171507504..181381327 [GRCh38]
Chr4:172428655..182302480 [GRCh37]
Chr4:172665230..182539474 [NCBI36]
Chr4:4q34.1-34.3		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1 copy number loss See cases [RCV000053350] Chr4:171851295..178772816 [GRCh38]
Chr4:172772446..179693970 [GRCh37]
Chr4:173009021..179930964 [NCBI36]
Chr4:4q34.1-34.3		 pathogenic
GRCh38/hg38 4q34.1(chr4:172101363-173820899)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053351]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053351]|See cases [RCV000053351] Chr4:172101363..173820899 [GRCh38]
Chr4:173022514..174742050 [GRCh37]
Chr4:173259089..174978625 [NCBI36]
Chr4:4q34.1		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) copy number loss See cases [RCV000141653] Chr4:166630207..179820960 [GRCh38]
Chr4:167551358..180742113 [GRCh37]
Chr4:167770808..180979107 [NCBI36]
Chr4:4q32.3-34.3		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q34.1(chr4:174254726-174298418)x4 copy number gain Breast ductal adenocarcinoma [RCV000207265] Chr4:174254726..174298418 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4 copy number gain See cases [RCV000510908] Chr4:173907396..176305880 [GRCh37]
Chr4:4q34.1-34.2		 uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3		 pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173761915-174501054)x3 copy number gain not provided [RCV000682487] Chr4:173761915..174501054 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q34.1(chr4:174297438-174849115)x3 copy number gain not provided [RCV000682489] Chr4:174297438..174849115 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3-34.1(chr4:166431563-174837887)x1 copy number loss not provided [RCV000744125] Chr4:166431563..174837887 [GRCh37]
Chr4:4q32.3-34.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:174261713-174347475)x3 copy number gain not provided [RCV000744158] Chr4:174261713..174347475 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2		 pathogenic
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787439] Chr4:171316973..180632505 [GRCh37]
Chr4:4q33-34.3		 pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss See cases [RCV001263167] Chr4:169108358..184425536 [GRCh37]
Chr4:4q32.3-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
NM_003864.4(SAP30):c.16C>T (p.Pro6Ser) single nucleotide variant not specified [RCV004229667] Chr4:173371198 [GRCh38]
Chr4:174292349 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.596A>G (p.Tyr199Cys) single nucleotide variant not specified [RCV004158579] Chr4:173377260 [GRCh38]
Chr4:174298411 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.196C>G (p.Leu66Val) single nucleotide variant not specified [RCV004188373] Chr4:173371378 [GRCh38]
Chr4:174292529 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.649A>G (p.Ser217Gly) single nucleotide variant not specified [RCV004238535] Chr4:173377313 [GRCh38]
Chr4:174298464 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.62C>T (p.Ala21Val) single nucleotide variant not specified [RCV004263751] Chr4:173371244 [GRCh38]
Chr4:174292395 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.509G>A (p.Arg170Lys) single nucleotide variant not specified [RCV004334340] Chr4:173374006 [GRCh38]
Chr4:174295157 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.500T>C (p.Leu167Pro) single nucleotide variant not specified [RCV004354232] Chr4:173373997 [GRCh38]
Chr4:174295148 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1 copy number loss not provided [RCV003485442] Chr4:171476330..184998011 [GRCh37]
Chr4:4q33-35.1		 likely pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3 copy number gain not provided [RCV004442809] Chr4:172781617..182798652 [GRCh37]
Chr4:4q34.1-34.3		 pathogenic
NM_003864.4(SAP30):c.430G>C (p.Asp144His) single nucleotide variant not specified [RCV004450107] Chr4:173373504 [GRCh38]
Chr4:174294655 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.164C>T (p.Pro55Leu) single nucleotide variant not specified [RCV004450105] Chr4:173371346 [GRCh38]
Chr4:174292497 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.587C>T (p.Thr196Ile) single nucleotide variant not specified [RCV004450108] Chr4:173377251 [GRCh38]
Chr4:174298402 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_003864.4(SAP30):c.172G>A (p.Ala58Thr) single nucleotide variant not specified [RCV004450106] Chr4:173371354 [GRCh38]
Chr4:174292505 [GRCh37]
Chr4:4q34.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:498
Count of miRNA genes:450
Interacting mature miRNAs:493
Transcripts:ENST00000296504, ENST00000504618
Prediction methods:Microtar, Miranda, Rnahybrid
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-59809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374174,298,409 - 174,298,514UniSTSGRCh37
GRCh373150,329,013 - 150,329,115UniSTSGRCh37
Build 363151,811,703 - 151,811,805RGDNCBI36
Celera4171,623,506 - 171,623,611RGD
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map3q25.1UniSTS
HuRef4170,046,326 - 170,046,431UniSTS
GeneMap99-GB4 RH Map4669.74UniSTS
SHGC-59778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374174,295,135 - 174,295,235UniSTSGRCh37
Build 364174,531,710 - 174,531,810RGDNCBI36
Celera4171,620,232 - 171,620,332RGD
Cytogenetic Map4q34.1UniSTS
HuRef4170,043,048 - 170,043,148UniSTS
GeneMap99-GB4 RH Map4671.8UniSTS
SAP30_8860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374174,298,356 - 174,298,879UniSTSGRCh37
Build 364174,534,931 - 174,535,454RGDNCBI36
Celera4171,623,453 - 171,623,976RGD
HuRef4170,046,273 - 170,046,796UniSTS
A008X24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374174,297,354 - 174,297,555UniSTSGRCh37
Build 364174,533,929 - 174,534,130RGDNCBI36
Celera4171,622,451 - 171,622,652RGD
Cytogenetic Map4q34.1UniSTS
HuRef4170,045,271 - 170,045,472UniSTS
GeneMap99-GB4 RH Map4671.76UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2067 2331 1113 244 1568 119 3020 1141 2764 218 1365 1478 138 1127 1776 3
Low 368 656 610 378 380 346 1336 1054 965 200 87 130 34 1 77 1012 1
Below cutoff 2 3 3 1 5 1 8 4 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000296504   ⟹   ENSP00000296504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4173,370,954 - 173,377,532 (+)Ensembl
RefSeq Acc Id: ENST00000504618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4173,369,969 - 173,371,232 (+)Ensembl
RefSeq Acc Id: NM_003864   ⟹   NP_003855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384173,370,954 - 173,377,532 (+)NCBI
GRCh374174,292,093 - 174,298,683 (+)ENTREZGENE
Build 364174,528,668 - 174,535,258 (+)NCBI Archive
HuRef4170,039,929 - 170,046,600 (+)ENTREZGENE
CHM1_14174,268,541 - 174,275,140 (+)NCBI
T2T-CHM13v2.04176,710,356 - 176,716,943 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003855 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC33316 (Get FASTA)   NCBI Sequence Viewer  
  AAH16757 (Get FASTA)   NCBI Sequence Viewer  
  EAX04755 (Get FASTA)   NCBI Sequence Viewer  
  EAX04756 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296504
  ENSP00000296504.3
GenBank Protein O75446 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003855   ⟸   NM_003864
- UniProtKB: D3DP38 (UniProtKB/Swiss-Prot),   O75446 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000296504   ⟸   ENST00000296504

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75446-F1-model_v2 AlphaFold O75446 1-220 view protein structure

Promoters
RGD ID:6868908
Promoter ID:EPDNEW_H7618
Type:initiation region
Name:SAP30_3
Description:Sin3A associated protein 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7615  EPDNEW_H7619  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384173,369,938 - 173,369,998EPDNEW
RGD ID:6868910
Promoter ID:EPDNEW_H7619
Type:initiation region
Name:SAP30_1
Description:Sin3A associated protein 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7615  EPDNEW_H7618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384173,370,954 - 173,371,014EPDNEW
RGD ID:6802581
Promoter ID:HG_KWN:49481
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003864
Position:
Human AssemblyChrPosition (strand)Source
Build 364174,527,671 - 174,528,797 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10532 AgrOrtholog
COSMIC SAP30 COSMIC
Ensembl Genes ENSG00000164105 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296504 ENTREZGENE
  ENST00000296504.4 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.160.20 UniProtKB/Swiss-Prot
GTEx ENSG00000164105 GTEx
HGNC ID HGNC:10532 ENTREZGENE
Human Proteome Map SAP30 Human Proteome Map
InterPro His_deAcase_SAP30/SAP30L UniProtKB/Swiss-Prot
  SAP30_C_sf UniProtKB/Swiss-Prot
  SAP30_Sin3-bd UniProtKB/Swiss-Prot
  SAP30_zn-finger UniProtKB/Swiss-Prot
KEGG Report hsa:8819 UniProtKB/Swiss-Prot
NCBI Gene 8819 ENTREZGENE
OMIM 603378 OMIM
PANTHER HISTONE DEACETYLASE COMPLEX SUBUNIT SAP30 UniProtKB/Swiss-Prot
  PTHR13286 UniProtKB/Swiss-Prot
Pfam SAP30_Sin3_bdg UniProtKB/Swiss-Prot
  zf-SAP30 UniProtKB/Swiss-Prot
PharmGKB PA34941 PharmGKB
UniProt D3DP38 ENTREZGENE
  O75446 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DP38 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 SAP30  Sin3A associated protein 30  SAP30  Sin3A associated protein 30kDa  Symbol and/or name change 5135510 APPROVED
2015-11-17 SAP30  Sin3A associated protein 30kDa  SAP30  Sin3A-associated protein, 30kDa  Symbol and/or name change 5135510 APPROVED