AutismKB 2.0

Annotation Detail for AHNAK


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Basic Information Top
Gene Symbol:AHNAK ( AHNAKRS,MGC5395 )
Gene Full Name: AHNAK nucleoprotein
Band: 11q12.3
Quick LinksEntrez ID:79026; OMIM: 103390; Uniprot ID:AHNK_HUMAN; ENSEMBL ID: ENSG00000124942; HGNC ID: 347
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body17 / 70761240
blastocyst5 / 6231980
fetus30 / 56401253
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult339 / 1939121174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor22 / 94178233
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor18 / 114246157
esophageal tumor3 / 17290173
gastrointestinal tumor21 / 119369175
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor39 / 136302286
kidney tumor15 / 68959217
leukemia0 / 958420 
liver tumor18 / 96359186
lung tumor13 / 103127126
lymphoma0 / 717550 
non-neoplasia16 / 97250164
normal359 / 3360307106
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor34 / 124949272
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor28 / 90257310
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland2 / 3319760
ascites6 / 40015149
bladder5 / 29757168
blood6 / 12347848
bone10 / 71655139
bone marrow1 / 4880120
brain55 / 110098949
cervix0 / 481710 
connective tissue26 / 149255174
ear3 / 16212185
embryonic tissue29 / 215722134
esophagus3 / 20209148
eye25 / 211054118
heart16 / 89626178
intestine46 / 234472196
kidney25 / 211777118
larynx10 / 24145414
liver27 / 207743129
lung37 / 336974109
lymph0 / 442700 
lymph node1 / 9161010
mammary gland47 / 153271306
mouth22 / 67052328
muscle12 / 107715111
nerve1 / 1576863
ovary6 / 10205158
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta60 / 280825213
prostate30 / 189345158
salivary gland2 / 2015599
skin47 / 210574223
spleen5 / 5395292
stomach14 / 96619144
testis9 / 33044227
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea22 / 52413419
umbilical cord0 / 136800 
uterus56 / 232878240
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220016_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.2
AdrenalCortex4.55
Adrenalgland3.6
Amygdala4.35
Appendix4.3
AtrioventricularNode3.35
BDCA4+_DentriticCells5
Bonemarrow4.2
BronchialEpithelialCells12.3
CD105+_Endothelial4.3
CD14+_Monocytes38.4
CD19+_BCells(neg._sel.)4.55
CD33+_Myeloid6.65
CD34+5.4
CD4+_Tcells4.55
CD56+_NKCells16.45
CD71+_EarlyErythroid4
CD8+_Tcells4.05
CardiacMyocytes5.5
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.8
CiliaryGanglion3.1
CingulateCortex4.35
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.3
FetalThyroid4.1
Fetalbrain4.2
Fetalliver3.7
Fetallung3.4
GlobusPallidus3.15
Heart5.6
Hypothalamus4.65
Kidney3.5
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.4
Liver6.15
Lung5.45
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb4.15
Ovary2.8
Pancreas3.45
PancreaticIslet4.5
ParietalLobe4.5
Pituitary4.95
Placenta4.3
Pons4
PrefrontalCortex5.2
Prostate4.95
Salivarygland3.4
SkeletalMuscle5.05
Skin3.35
SmoothMuscle4.8
Spinalcord4.55
SubthalamicNucleus3.9
SuperiorCervicalGanglion4.8
TemporalLobe3.9
Testis3.6
TestisGermCell3.5
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.6
Thalamus4.3
Thymus3.35
Thyroid5.25
Tongue5
Tonsil4.15
Trachea3.55
TrigeminalGanglion4.3
Uterus3.45
UterusCorpus3.75
WholeBlood4.65
Wholebrain3.5
colon4.3
pineal_day5.26
pineal_night5.14
retina5.175
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6057_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.25 ± 0.45
Basal Forebrain4.94 ± 0.28
Basal Part of Pons5.1 ± 0.56
Cerebellar Cortex4.73 ± 0.41
Cerebellar Nuclei4.82 ± 0.49
Claustrum5.52 ± 0.55
Epithalamus5.18 ± 0.25
Frontal Lobe4.95 ± 0.55
Globus Pallidus5.81 ± 0.38
Hypothalamus4.92 ± 0.74
Insula4.85 ± 0.44
Limbic Lobe5.17 ± 0.64
Mesencephalon5.1 ± 0.45
Myelencephalon5.13 ± 0.48
Occipital Lobe5 ± 0.58
Parietal Lobe4.95 ± 0.54
Pontine Tegmentum4.82 ± 0.57
Striatum5.1 ± 0.48
Subthalamus4.73 ± 0.28
Temporal Lobe4.98 ± 0.54
Thalamus5.06 ± 0.43
White Matter5.68 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AhnakCBCerebellum0.62
1.83
AhnakCTXCerebral cortex0.94
1.35
AhnakHIPHippocampal region0.52
0.67
AhnakHPFHippocampal formation0.42
0.5
AhnakHYHypothalamus0.75
1.63
AhnakLSXLateral septal complex0.33
0.38
AhnakMBMidbrain2.53
5.63
AhnakMYMedulla0.66
2.08
AhnakOLFOlfactory bulb0.51
1.55
AhnakPPons1.85
4.34
AhnakPALPallidum0.31
0.36
AhnakRHPRetrohippocampal region0.27
0.27
AhnaksAMYStriatum-like amygdalar nuclei0.71
1.91
AhnakSTRStriatum0.47
0.66
AhnakSTRdStriatum dorsal region0.41
0.54
AhnakSTRvStriatum ventral region0.24
0.25
AhnakTHThalamus1.12
1.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AHNK_HUMAN_0 0 0 0 ADVDVSGPK PRIDE
AHNK_HUMAN_0 0 0 0 AEGPEVDVNLPK PRIDE
AHNK_HUMAN_0 0 0 0 ANVDISAPK PRIDE
AHNK_HUMAN_0 0 0 0 FSMPGFKAEGPEVDVNLPK PRIDE
AHNK_HUMAN_0 0 0 0 FSMPGFKGEGPDVDVNLPK PRIDE
AHNK_HUMAN_0 0 0 0 GEGPDVDVNLPK PRIDE
AHNK_HUMAN_0 0 0 0 GEGPEVDVNLPK PRIDE
AHNK_HUMAN_0 0 0 0 GSEVGFHGAAPDISVK PRIDE
AHNK_HUMAN_0 0 0 0 IEGEMQVPDVDIR PRIDE
AHNK_HUMAN_0 0 0 0 ISAPNVDFNLEGPK PRIDE
AHNK_HUMAN_0 0 0 0 ISMPDIDLNLK PRIDE
AHNK_HUMAN_0 0 0 0 ISMPDIDLNLKGPK PRIDE
AHNK_HUMAN_0 0 0 0 ISMPDVDLHLK PRIDE
AHNK_HUMAN_0 0 0 0 LDFEGPDAK PRIDE
AHNK_HUMAN_0 0 0 0 LKGPQITGPSLEGDLGLK PRIDE
AHNK_HUMAN_0 0 0 0 MDVNVGDIDIEGPEGK PRIDE
AHNK_HUMAN_0 0 0 0 MPEMNIK PRIDE
AHNK_HUMAN_0 0 0 0 VDIDAPDVDVHGPDWHLK PRIDE
AHNK_HUMAN_0 0 0 0 VDIDVPDVNLEAPEGK PRIDE
AHNK_HUMAN_0 0 0 0 VDISAPDVDVHGPDWHLK PRIDE
AHNK_HUMAN_0 0 0 0 VDVEVPDVSLEGPEGK PRIDE
AHNK_HUMAN_0 0 0 0 VEGDLKGPEIDVK PRIDE
AHNK_HUMAN_0 0 0 0 VGGSGVNVNAK PRIDE
AHNK_HUMAN_0 0 0 0 VNVEAPDVNLEGLGGK PRIDE
AHNK_HUMAN_0 0 0 0 VSMPDVDLNLKGPK PRIDE
AHNK_HUMAN_1043 16 1043 1058 VDVEVPDVSLEGPEGK PRIDE
AHNK_HUMAN_1075 14 1075 1088 ISMPDVDLNLKGPK PRIDE
AHNK_HUMAN_1076 11 1076 1086 ISMPDVDLNLK PRIDE
AHNK_HUMAN_1142 19 1142 1160 FSMPGFKGEGPEVDVKLPK PRIDE
AHNK_HUMAN_122 18 122 139 LKGPQITGPSLEGDLGLK PRIDE
AHNK_HUMAN_1270 19 1270 1288 FSMPGFKGEGPEVDMNLPK PRIDE
AHNK_HUMAN_1278 12 1278 1289 GEGPEVDMNLPK PRIDE
AHNK_HUMAN_1289 25 1289 1313 ADLGVSGPKVDIDVPDVNLEAPEGK PRIDE
AHNK_HUMAN_1332 11 1332 1342 ISMPDVGLNLK PRIDE
AHNK_HUMAN_1372 16 1372 1387 MDVNVGDIDIEGPEGK PRIDE
AHNK_HUMAN_1420 11 1420 1430 VKGDMDVSVPK PRIDE
AHNK_HUMAN_1531 14 1531 1544 APKVSMPDVDLNLK PRIDE
AHNK_HUMAN_1534 11 1534 1544 VSMPDVDLNLK PRIDE
AHNK_HUMAN_1607 14 1607 1620 ISMPDVDLHLKGPK PRIDE
AHNK_HUMAN_1663 9 1663 1671 FKMPDMHFK PRIDE
AHNK_HUMAN_1665 7 1665 1671 MPDMHFK PRIDE
AHNK_HUMAN_1729 19 1729 1747 FSMPGFKGEGPDVDVNLPK PRIDE
AHNK_HUMAN_1736 12 1736 1747 GEGPDVDVNLPK PRIDE
AHNK_HUMAN_1737 12 1737 1748 GEGPDVDVNLPK PRIDE
AHNK_HUMAN_1748 25 1748 1772 ADIDVSGPKVDVDVPDVNIEGPDAK PRIDE
AHNK_HUMAN_1790 11 1790 1800 ISMPDIDLNLK PRIDE
AHNK_HUMAN_1790 14 1790 1803 ISMPDIDLNLKGPK PRIDE
AHNK_HUMAN_1791 11 1791 1801 ISMPDIDLNLK PRIDE
AHNK_HUMAN_1791 14 1791 1804 ISMPDIDLNLKGPK PRIDE
AHNK_HUMAN_1857 19 1857 1875 FSMPGFKGEGPDVDVSLPK PRIDE
AHNK_HUMAN_1918 14 1918 1931 ISIPDVDLDLKGPK PRIDE
AHNK_HUMAN_1976 10 1976 1985 MPSLEISAPK PRIDE
AHNK_HUMAN_1985 14 1985 1998 VTAPDVDLHLKAPK PRIDE
AHNK_HUMAN_2158 11 2158 2168 MYFPDVEFDIK PRIDE
AHNK_HUMAN_2233 18 2233 2250 VQANLGAPDINIEGLDAK PRIDE
AHNK_HUMAN_2310 32 2310 2341 IGIPGVKMEGGGAEVHAQLPSLEGDLRGPDVK PRIDE
AHNK_HUMAN_2352 15 2352 2366 GPGVDLPSVNLSMPK PRIDE
AHNK_HUMAN_2425 11 2425 2435 LNVGAPDVTLR PRIDE
AHNK_HUMAN_252 14 252 265 ISMQDVDLSLGSPK PRIDE
AHNK_HUMAN_253 14 253 266 ISMQDVDLSLGSPK PRIDE
AHNK_HUMAN_2543 26 2543 2568 GPTVGGGLPGIGVQGLEGNLQMPGIK PRIDE
AHNK_HUMAN_2614 21 2614 2634 GPAFNMASPESDFGINLKGPK PRIDE
AHNK_HUMAN_2615 18 2615 2632 GPAFNMASPESDFGINLK PRIDE
AHNK_HUMAN_272 18 272 289 VSAPGVQGDVKGPQVALK PRIDE
AHNK_HUMAN_290 19 290 308 GSRVDIETPNLEGTLTGPR PRIDE
AHNK_HUMAN_322 14 322 335 ISMSEVDLNVAAPK PRIDE
AHNK_HUMAN_396 12 396 407 GEGPDVHMTLPK PRIDE
AHNK_HUMAN_416 16 416 431 VNVEAPDVNLEGLGGK PRIDE
AHNK_HUMAN_450 11 450 460 ISMPDVDLHVK PRIDE
AHNK_HUMAN_480 21 480 500 GPKVDIDAPDVDVHGPDWHLK PRIDE
AHNK_HUMAN_483 18 483 500 VDIDAPDVDVHGPDWHLK PRIDE
AHNK_HUMAN_537 16 537 552 IDVTAPDVSIEEPEGK PRIDE
AHNK_HUMAN_559 9 559 567 FKMPEMNIK PRIDE
AHNK_HUMAN_561 7 561 567 MPEMNIK PRIDE
AHNK_HUMAN_571 11 571 581 ISMPDVDLHLK PRIDE
AHNK_HUMAN_611 18 611 628 MDIDVPDVEVQGPDWHLK PRIDE
AHNK_HUMAN_637 19 637 655 FSMPGFKAEGPEVDVNLPK PRIDE
AHNK_HUMAN_644 12 644 655 AEGPEVDVNLPK PRIDE
AHNK_HUMAN_645 12 645 656 AEGPEVDVNLPK PRIDE
AHNK_HUMAN_656 9 656 664 ADVDISGPK PRIDE
AHNK_HUMAN_665 16 665 680 VGVEVPDVNIEGPEGK PRIDE
AHNK_HUMAN_699 11 699 709 ISMPDVDLHMK PRIDE
AHNK_HUMAN_777 9 777 785 ANVDISAPK PRIDE
AHNK_HUMAN_786 16 786 801 VDTNAPDLSLEGPEGK PRIDE
AHNK_HUMAN_808 9 808 816 FKMPEMHFR PRIDE
AHNK_HUMAN_810 7 810 816 MPEMHFR PRIDE
AHNK_HUMAN_819 14 819 832 MSLPDVDLDLKGPK PRIDE
AHNK_HUMAN_844 13 844 856 IEGEMQVPDVDIR PRIDE
AHNK_HUMAN_845 13 845 857 IEGEMQVPDVDIR PRIDE
AHNK_HUMAN_886 19 886 904 FSMPSLKGEGPEVDVNLPK PRIDE
AHNK_HUMAN_893 12 893 904 GEGPEVDVNLPK PRIDE
AHNK_HUMAN_894 12 894 905 GEGPEVDVNLPK PRIDE
AHNK_HUMAN_936 9 936 944 FKMPEMHFK PRIDE
AHNK_HUMAN_938 7 938 944 MPEMHFK PRIDE
PAp00130803 17 29 45 DDGVFVQEVTQNSPAAR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018