AMPH (amphiphysin) - Rat Genome Database

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Gene: AMPH (amphiphysin) Homo sapiens
Analyze
Symbol: AMPH
Name: amphiphysin
RGD ID: 733884
HGNC Page HGNC
Description: Enables phospholipid binding activity. Predicted to be involved in synaptic vesicle endocytosis. Predicted to act upstream of or within learning. Located in leading edge membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMPH1; amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen); amphiphysin I; Stiff-Man syndrome with breast cancer 128kDa autoantigen
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC104389.3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl738,383,704 - 38,631,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38738,383,694 - 38,631,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37738,423,305 - 38,670,973 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36738,389,830 - 38,637,545 (-)NCBINCBI36hg18NCBI36
Build 34738,196,545 - 38,444,260NCBI
Celera738,411,134 - 38,658,846 (-)NCBI
Cytogenetic Map7p14.1NCBI
HuRef738,307,292 - 38,555,371 (-)NCBIHuRef
CHM1_1738,425,940 - 38,673,786 (-)NCBICHM1_1
CRA_TCAGchr7v2738,460,969 - 38,708,834 (-)NCBI
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

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1628617   PMID:7757077   PMID:7757816   PMID:8076697   PMID:8245793   PMID:8552632   PMID:9148966   PMID:9182667   PMID:9195986   PMID:9259551   PMID:9280305   PMID:9315708  
PMID:9341169   PMID:9348539   PMID:9388246   PMID:9513187   PMID:9603201   PMID:9694653   PMID:9736607   PMID:10542231   PMID:10748223   PMID:10764771   PMID:10899172   PMID:10931822  
PMID:11113134   PMID:11709703   PMID:11877424   PMID:12023042   PMID:12057195   PMID:12456676   PMID:12477932   PMID:12558988   PMID:12565847   PMID:12690205   PMID:12853948   PMID:14529717  
PMID:14704270   PMID:14973137   PMID:15345747   PMID:15489334   PMID:15834155   PMID:16139795   PMID:16344560   PMID:16671079   PMID:16696976   PMID:16733250   PMID:17244534   PMID:17419807  
PMID:17437541   PMID:17762867   PMID:18206907   PMID:18647389   PMID:18814309   PMID:19144635   PMID:19669081   PMID:20214647   PMID:20379614   PMID:20946875   PMID:21044950   PMID:21712076  
PMID:21873635   PMID:21900206   PMID:22331304   PMID:22360420   PMID:22558309   PMID:22745667   PMID:22750946   PMID:22975846   PMID:23399914   PMID:25087559   PMID:25416956   PMID:26186194  
PMID:26506308   PMID:27093085   PMID:28514442   PMID:29357276   PMID:30143925   PMID:31515488   PMID:32296183   PMID:32476271   PMID:32814053  


Genomics

Comparative Map Data
AMPH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl738,383,704 - 38,631,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38738,383,694 - 38,631,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37738,423,305 - 38,670,973 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36738,389,830 - 38,637,545 (-)NCBINCBI36hg18NCBI36
Build 34738,196,545 - 38,444,260NCBI
Celera738,411,134 - 38,658,846 (-)NCBI
Cytogenetic Map7p14.1NCBI
HuRef738,307,292 - 38,555,371 (-)NCBIHuRef
CHM1_1738,425,940 - 38,673,786 (-)NCBICHM1_1
CRA_TCAGchr7v2738,460,969 - 38,708,834 (-)NCBI
Amph
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391319,132,325 - 19,338,202 (+)NCBIGRCm39mm39
GRCm39 Ensembl1319,132,375 - 19,335,091 (+)Ensembl
GRCm381318,948,142 - 19,154,032 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1318,948,205 - 19,150,921 (+)EnsemblGRCm38mm10GRCm38
MGSCv371319,040,240 - 19,242,784 (+)NCBIGRCm37mm9NCBIm37
MGSCv361318,955,836 - 19,158,380 (+)NCBImm8
Celera1319,259,525 - 19,457,406 (+)NCBICelera
Cytogenetic Map13A2NCBI
cM Map136.89NCBI
Amph
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21745,739,385 - 45,982,905 (-)NCBImRatBN7.2
Rnor_6.01748,304,324 - 48,562,838 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1748,304,322 - 48,562,905 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01746,357,604 - 46,621,763 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41753,558,804 - 53,802,936NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11753,561,655 - 53,805,777NCBI
Cytogenetic Map17q11NCBI
Amph
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554604,804,442 - 5,023,202 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554604,804,400 - 5,024,312 (+)NCBIChiLan1.0ChiLan1.0
AMPH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1739,250,081 - 39,495,844 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl739,250,081 - 39,495,844 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0739,015,699 - 39,262,120 (-)NCBIMhudiblu_PPA_v0panPan3
AMPH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11811,132,078 - 11,261,847 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1811,143,446 - 11,260,841 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1810,903,625 - 11,114,792 (+)NCBI
ROS_Cfam_1.01811,099,548 - 11,310,938 (+)NCBI
UMICH_Zoey_3.11811,076,355 - 11,287,485 (+)NCBI
UNSW_CanFamBas_1.01811,044,639 - 11,263,972 (+)NCBI
UU_Cfam_GSD_1.01811,160,063 - 11,371,410 (+)NCBI
Amph
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511894,747,942 - 94,972,174 (-)NCBI
SpeTri2.0NW_00493647813,959,669 - 14,183,835 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMPH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9108,799,793 - 108,971,668 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19108,800,718 - 108,971,575 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29119,651,630 - 119,751,221 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Amph
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474022,399,302 - 22,615,736 (+)NCBI

Position Markers
WI-12429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,423,329 - 38,423,478UniSTSGRCh37
Build 36738,389,854 - 38,390,003RGDNCBI36
Celera738,411,158 - 38,411,307RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,307,324 - 38,307,473UniSTS
CRA_TCAGchr7v2738,461,001 - 38,461,150UniSTS
GeneMap99-GB4 RH Map7172.95UniSTS
Whitehead-RH Map7123.1UniSTS
NCBI RH Map7578.3UniSTS
SHGC-56040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,424,291 - 38,424,403UniSTSGRCh37
Build 36738,390,816 - 38,390,928RGDNCBI36
Celera738,412,120 - 38,412,232RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,308,286 - 38,308,398UniSTS
CRA_TCAGchr7v2738,461,963 - 38,462,075UniSTS
GeneMap99-GB4 RH Map7175.03UniSTS
Whitehead-RH Map7123.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:1317308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,575,722 - 38,575,795UniSTSGRCh37
Build 36738,542,247 - 38,542,320RGDNCBI36
Celera738,563,586 - 38,563,659RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,459,762 - 38,459,835UniSTS
CRA_TCAGchr7v2738,613,436 - 38,613,509UniSTS
SHGC-52716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,535,416 - 38,535,554UniSTSGRCh37
Build 36738,501,941 - 38,502,079RGDNCBI36
Celera738,523,264 - 38,523,402RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,419,457 - 38,419,595UniSTS
CRA_TCAGchr7v2738,573,115 - 38,573,253UniSTS
TNG Radiation Hybrid Map718882.0UniSTS
1708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,423,420 - 38,423,513UniSTSGRCh37
Build 36738,389,945 - 38,390,038RGDNCBI36
Celera738,411,249 - 38,411,342RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,307,415 - 38,307,508UniSTS
CRA_TCAGchr7v2738,461,092 - 38,461,185UniSTS
GeneMap99-GB4 RH Map7172.12UniSTS
NCBI RH Map7576.1UniSTS
SHGC-80888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,461,365 - 38,461,660UniSTSGRCh37
Build 36738,427,890 - 38,428,185RGDNCBI36
Celera738,449,165 - 38,449,460RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,345,383 - 38,345,678UniSTS
CRA_TCAGchr7v2738,499,019 - 38,499,314UniSTS
TNG Radiation Hybrid Map718841.0UniSTS
SHGC-106776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,448,931 - 38,449,263UniSTSGRCh37
Build 36738,415,456 - 38,415,788RGDNCBI36
Celera738,436,734 - 38,437,066RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,332,924 - 38,333,256UniSTS
CRA_TCAGchr7v2738,486,586 - 38,486,918UniSTS
TNG Radiation Hybrid Map718827.0UniSTS
AMPH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,424,164 - 38,424,408UniSTSGRCh37
Build 36738,390,689 - 38,390,933RGDNCBI36
Celera738,411,993 - 38,412,237RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,308,159 - 38,308,403UniSTS
CRA_TCAGchr7v2738,461,836 - 38,462,080UniSTS
RH17983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,424,290 - 38,424,441UniSTSGRCh37
Build 36738,390,815 - 38,390,966RGDNCBI36
Celera738,412,119 - 38,412,270RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,308,285 - 38,308,436UniSTS
CRA_TCAGchr7v2738,461,962 - 38,462,113UniSTS
GeneMap99-GB4 RH Map7174.39UniSTS
NCBI RH Map7583.9UniSTS
D7S2115E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,423,452 - 38,423,531UniSTSGRCh37
Build 36738,389,977 - 38,390,056RGDNCBI36
Celera738,411,281 - 38,411,360RGD
Cytogenetic Map7p14-p13UniSTS
HuRef738,307,447 - 38,307,526UniSTS
CRA_TCAGchr7v2738,461,124 - 38,461,203UniSTS
GeneMap99-GB4 RH Map7174.39UniSTS
NCBI RH Map7589.3UniSTS
REN97903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,376,206 - 5,376,441UniSTSGRCh37
Build 36115,332,782 - 5,333,017RGDNCBI36
Celera115,494,692 - 5,494,927RGD
Cytogenetic Map7p14-p13UniSTS
HuRef115,035,256 - 5,035,491UniSTS
AMPH_8202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37738,423,321 - 38,423,951UniSTSGRCh37
Build 36738,389,846 - 38,390,476RGDNCBI36
Celera738,411,150 - 38,411,780RGD
HuRef738,307,316 - 38,307,946UniSTS
CRA_TCAGchr7v2738,460,993 - 38,461,623UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3047
Count of miRNA genes:927
Interacting mature miRNAs:1108
Transcripts:ENST00000325590, ENST00000356264, ENST00000428293, ENST00000441628, ENST00000450124, ENST00000460887, ENST00000462072, ENST00000467580, ENST00000471913, ENST00000475581
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 50 175 263 4 76 4 269 38 1848 32 65 62 219 72
Low 2193 2388 825 214 913 56 3780 2042 1848 186 1163 1315 164 1 984 2586
Below cutoff 91 416 589 363 765 361 296 109 26 159 175 169 5 1 130 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA125756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F03887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325590   ⟹   ENSP00000317441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,383,704 - 38,631,420 (-)Ensembl
RefSeq Acc Id: ENST00000356264   ⟹   ENSP00000348602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,383,704 - 38,631,373 (-)Ensembl
RefSeq Acc Id: ENST00000441628   ⟹   ENSP00000415085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,384,818 - 38,463,113 (-)Ensembl
RefSeq Acc Id: ENST00000450124   ⟹   ENSP00000400404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,391,988 - 38,429,285 (-)Ensembl
RefSeq Acc Id: ENST00000460887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,389,848 - 38,392,719 (-)Ensembl
RefSeq Acc Id: ENST00000462072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,394,070 - 38,430,055 (-)Ensembl
RefSeq Acc Id: ENST00000467580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,391,988 - 38,429,285 (-)Ensembl
RefSeq Acc Id: ENST00000471913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,391,988 - 38,429,285 (-)Ensembl
RefSeq Acc Id: ENST00000475581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl738,391,891 - 38,418,031 (-)Ensembl
RefSeq Acc Id: NM_001635   ⟹   NP_001626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,704 - 38,631,373 (-)NCBI
GRCh37738,423,297 - 38,671,167 (-)ENTREZGENE
Build 36738,389,830 - 38,637,545 (-)NCBI Archive
HuRef738,307,292 - 38,555,371 (-)ENTREZGENE
CHM1_1738,425,940 - 38,673,786 (-)NCBI
CRA_TCAGchr7v2738,460,969 - 38,708,834 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_139316   ⟹   NP_647477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,704 - 38,631,373 (-)NCBI
GRCh37738,423,297 - 38,671,167 (-)ENTREZGENE
GRCh37738,423,297 - 38,671,167 (-)NCBI
Build 36738,389,830 - 38,637,545 (-)NCBI Archive
HuRef738,307,292 - 38,555,371 (-)ENTREZGENE
CHM1_1738,425,940 - 38,673,786 (-)NCBI
CRA_TCAGchr7v2738,460,969 - 38,708,834 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006715689   ⟹   XP_006715752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,694 - 38,631,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715690   ⟹   XP_006715753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,694 - 38,631,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715691   ⟹   XP_006715754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,431,683 - 38,631,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515271   ⟹   XP_011513573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,694 - 38,631,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011995   ⟹   XP_016867484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,694 - 38,631,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011996   ⟹   XP_016867485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,383,694 - 38,631,497 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001626 (Get FASTA)   NCBI Sequence Viewer  
  NP_647477 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715752 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715753 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715754 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513573 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867484 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867485 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA21865 (Get FASTA)   NCBI Sequence Viewer  
  AAC02977 (Get FASTA)   NCBI Sequence Viewer  
  AAD16282 (Get FASTA)   NCBI Sequence Viewer  
  AAD16283 (Get FASTA)   NCBI Sequence Viewer  
  AAD16285 (Get FASTA)   NCBI Sequence Viewer  
  AAH34376 (Get FASTA)   NCBI Sequence Viewer  
  AAM44806 (Get FASTA)   NCBI Sequence Viewer  
  AAM44807 (Get FASTA)   NCBI Sequence Viewer  
  AAM44808 (Get FASTA)   NCBI Sequence Viewer  
  AAM44809 (Get FASTA)   NCBI Sequence Viewer  
  AAM44810 (Get FASTA)   NCBI Sequence Viewer  
  AAM44811 (Get FASTA)   NCBI Sequence Viewer  
  AAS07391 (Get FASTA)   NCBI Sequence Viewer  
  AAS07541 (Get FASTA)   NCBI Sequence Viewer  
  AAS07563 (Get FASTA)   NCBI Sequence Viewer  
  BAF84136 (Get FASTA)   NCBI Sequence Viewer  
  CAA57197 (Get FASTA)   NCBI Sequence Viewer  
  EAL23989 (Get FASTA)   NCBI Sequence Viewer  
  EAL23990 (Get FASTA)   NCBI Sequence Viewer  
  EAW94110 (Get FASTA)   NCBI Sequence Viewer  
  EAW94111 (Get FASTA)   NCBI Sequence Viewer  
  P49418 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_647477   ⟸   NM_139316
- Peptide Label: isoform 2
- UniProtKB: P49418 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001626   ⟸   NM_001635
- Peptide Label: isoform 1
- UniProtKB: P49418 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715753   ⟸   XM_006715690
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006715752   ⟸   XM_006715689
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006715754   ⟸   XM_006715691
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011513573   ⟸   XM_011515271
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016867485   ⟸   XM_017011996
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016867484   ⟸   XM_017011995
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000400404   ⟸   ENST00000450124
RefSeq Acc Id: ENSP00000415085   ⟸   ENST00000441628
RefSeq Acc Id: ENSP00000317441   ⟸   ENST00000325590
RefSeq Acc Id: ENSP00000348602   ⟸   ENST00000356264
Protein Domains
BAR   SH3

Promoters
RGD ID:7210409
Promoter ID:EPDNEW_H10950
Type:initiation region
Name:AMPH_2
Description:amphiphysin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,429,243 - 38,429,303EPDNEW
RGD ID:6805229
Promoter ID:HG_KWN:57079
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000338409
Position:
Human AssemblyChrPosition (strand)Source
Build 36738,469,721 - 38,470,221 (-)MPROMDB
RGD ID:7210411
Promoter ID:EPDNEW_H10951
Type:initiation region
Name:AMPH_1
Description:amphiphysin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38738,631,429 - 38,631,489EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_001635.3(AMPH):c.1182+934G>A single nucleotide variant Malignant melanoma [RCV000067873] Chr7:38428908 [GRCh38]
Chr7:38468508 [GRCh37]
Chr7:38435033 [NCBI36]
Chr7:7p14.1
not provided
NM_001635.3(AMPH):c.565G>A (p.Glu189Lys) single nucleotide variant Malignant melanoma [RCV000067874] Chr7:38475356 [GRCh38]
Chr7:38514956 [GRCh37]
Chr7:38481481 [NCBI36]
Chr7:7p14.1
not provided
NM_001635.3(AMPH):c.1057G>A (p.Asp353Asn) single nucleotide variant Malignant melanoma [RCV000061640] Chr7:38436349 [GRCh38]
Chr7:38475949 [GRCh37]
Chr7:38442474 [NCBI36]
Chr7:7p14.1
not provided
NM_001635.3(AMPH):c.151-7567A>G single nucleotide variant Lung cancer [RCV000106027] Chr7:38511271 [GRCh38]
Chr7:38550871 [GRCh37]
Chr7:7p14.1
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1 copy number loss See cases [RCV000138190] Chr7:35460776..42013800 [GRCh38]
Chr7:35500386..42053399 [GRCh37]
Chr7:35466911..42019924 [NCBI36]
Chr7:7p14.2-14.1
pathogenic
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 copy number loss See cases [RCV000140283] Chr7:32678391..41044983 [GRCh38]
Chr7:32718003..41084581 [GRCh37]
Chr7:32684528..41051106 [NCBI36]
Chr7:7p14.3-14.1
pathogenic
GRCh38/hg38 7p14.1(chr7:38208739-38687927)x3 copy number gain See cases [RCV000140885] Chr7:38208739..38687927 [GRCh38]
Chr7:38248340..38727527 [GRCh37]
Chr7:38214865..38694052 [NCBI36]
Chr7:7p14.1
likely benign|uncertain significance
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1 copy number loss See cases [RCV000512076] Chr7:38619347..40542932 [GRCh37]
Chr7:7p14.1
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1 copy number loss not provided [RCV000509377] Chr7:38619347..40542932 [GRCh37]
Chr7:7p14.1
not provided
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1(chr7:37213108-40255122)x3 copy number gain not provided [RCV000746632] Chr7:37213108..40255122 [GRCh37]
Chr7:7p14.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1(chr7:38043677-38501065)x1 copy number loss not provided [RCV000746635] Chr7:38043677..38501065 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626035-38626399)x0 copy number loss not provided [RCV000746638] Chr7:38626035..38626399 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626087-38626399)x0 copy number loss not provided [RCV000746639] Chr7:38626087..38626399 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626147-38626295)x0 copy number loss not provided [RCV000746640] Chr7:38626147..38626295 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626147-38626347)x0 copy number loss not provided [RCV000746641] Chr7:38626147..38626347 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626147-38626399)x0 copy number loss not provided [RCV000746642] Chr7:38626147..38626399 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626205-38630433)x0 copy number loss not provided [RCV000746643] Chr7:38626205..38630433 [GRCh37]
Chr7:7p14.1
benign
GRCh37/hg19 7p14.1(chr7:38626205-38634185)x0 copy number loss not provided [RCV000746644] Chr7:38626205..38634185 [GRCh37]
Chr7:7p14.1
benign
NM_001635.4(AMPH):c.852G>A (p.Ala284=) single nucleotide variant not provided [RCV000901639] Chr7:38463011 [GRCh38]
Chr7:38502611 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1157C>T (p.Thr386Met) single nucleotide variant not provided [RCV000897618] Chr7:38432190 [GRCh38]
Chr7:38471790 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1014C>A (p.Ser338=) single nucleotide variant not provided [RCV000942167] Chr7:38461286 [GRCh38]
Chr7:38500886 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1757C>T (p.Thr586Met) single nucleotide variant not provided [RCV000883077] Chr7:38391869 [GRCh38]
Chr7:38431470 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1017+10T>C single nucleotide variant not provided [RCV000969034] Chr7:38461273 [GRCh38]
Chr7:38500873 [GRCh37]
Chr7:7p14.1
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001635.4(AMPH):c.1450G>T (p.Ala484Ser) single nucleotide variant not provided [RCV000906272] Chr7:38394163 [GRCh38]
Chr7:38433763 [GRCh37]
Chr7:7p14.1
benign
NM_001635.4(AMPH):c.780A>G (p.Thr260=) single nucleotide variant not provided [RCV000919043] Chr7:38463083 [GRCh38]
Chr7:38502683 [GRCh37]
Chr7:7p14.1
likely benign
GRCh37/hg19 7p14.1(chr7:38559831-38733061)x1 copy number loss not provided [RCV001005937] Chr7:38559831..38733061 [GRCh37]
Chr7:7p14.1
uncertain significance
NM_001635.4(AMPH):c.142C>T (p.Arg48Trp) single nucleotide variant not provided [RCV000896600] Chr7:38534939 [GRCh38]
Chr7:38574539 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1158+9C>T single nucleotide variant not provided [RCV000924427] Chr7:38432180 [GRCh38]
Chr7:38471780 [GRCh37]
Chr7:7p14.1
likely benign
NM_001635.4(AMPH):c.1128G>C (p.Met376Ile) single nucleotide variant not provided [RCV000956475] Chr7:38436278 [GRCh38]
Chr7:38475878 [GRCh37]
Chr7:7p14.1
benign
NM_001635.4(AMPH):c.1482G>A (p.Ala494=) single nucleotide variant not provided [RCV000935821] Chr7:38394131 [GRCh38]
Chr7:38433731 [GRCh37]
Chr7:7p14.1
likely benign
GRCh37/hg19 7p14.1(chr7:37202606-39500521)x3 copy number gain not provided [RCV001005935] Chr7:37202606..39500521 [GRCh37]
Chr7:7p14.1
uncertain significance
GRCh37/hg19 7p14.1(chr7:38357074-38481296)x1 copy number loss not provided [RCV001258935] Chr7:38357074..38481296 [GRCh37]
Chr7:7p14.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:471 AgrOrtholog
COSMIC AMPH COSMIC
Ensembl Genes ENSG00000078053 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000317441 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348602 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400404 UniProtKB/TrEMBL
  ENSP00000415085 UniProtKB/TrEMBL
Ensembl Transcript ENST00000325590 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356264 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441628 UniProtKB/TrEMBL
  ENST00000450124 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000078053 GTEx
HGNC ID HGNC:471 ENTREZGENE
Human Proteome Map AMPH Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Amphiphysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Amphiphysin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Amphiphysin_I_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:273 UniProtKB/Swiss-Prot
NCBI Gene 273 ENTREZGENE
OMIM 600418 OMIM
PANTHER PTHR46514:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24779 PharmGKB
PRINTS AMPHIPHYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMPHIPHYSIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AMPH_HUMAN UniProtKB/Swiss-Prot
  H0Y5S4_HUMAN UniProtKB/TrEMBL
  H0Y7T8_HUMAN UniProtKB/TrEMBL
  P49418 ENTREZGENE
  Q8NFL3_HUMAN UniProtKB/TrEMBL
  Q8NFL4_HUMAN UniProtKB/TrEMBL
  Q8NFL5_HUMAN UniProtKB/TrEMBL
  Q8NFL6_HUMAN UniProtKB/TrEMBL
  Q8NFL7_HUMAN UniProtKB/TrEMBL
  Q8NFL8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D1X8 UniProtKB/Swiss-Prot
  A4D1X9 UniProtKB/Swiss-Prot
  O43538 UniProtKB/Swiss-Prot
  Q75MJ8 UniProtKB/Swiss-Prot
  Q75MK5 UniProtKB/Swiss-Prot
  Q75MM3 UniProtKB/Swiss-Prot
  Q8N4G0 UniProtKB/Swiss-Prot